Browse by Research Team

Acta Neuropathologica

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy.
Volmering, E., Niehusmann, P., Peeva, V., Grote, A., Zsurka, G., Altmüller, J., Nürnberg, P., Becker, A.J., Schoch, S., Elger, C.E. and Kunz, W.S.
Acta Neuropathologica 132 (2): 277-288. August 2016

Acta Physiologica

Single cell‐ and spatial 'omics revolutionize physiology.
Conrad, T. and Altmüller, J.
Acta Physiologica : e13848. 2 June 2022

Allergy

A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3.
Kurz, T., Altmueller, J., Strauch, K., Rueschendorf, F., Heinzmann, A., Moffatt, M.F., Cookson, W.O.C.M., Inacio, F., Nuernberg, P., Stassen, H.H. and Deichmann, K.A.
Allergy 60 : 192-199. 1 January 2005

American Journal of Human Genetics

Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Strathmann, E.A., Hölker, I., Tschernoster, N., Hosseinibarkooie, S., Come, J., Martinat, C., Altmüller, J. and Wirth, B.
American Journal of Human Genetics 110 (3): 442-459. 2 March 2023

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng, P.L., Majmundar, A.J., Khan, K., Lim, T.Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D.F., Aggarwal, V.S., Bier, L.E., Heinzen, E.L., Onuchic-Whitford, A.C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T.M., Klämbt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B.B., Altmüller, J., Benz, M.R., Yano, S., Mikati, M.A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., AbuMaziad, A.S., Martinez-Agosto, J.A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A.V., Parboosingh, J.S., Innes, A.M., Bierzynska, A., Koziell, A.B., Muorah, M., Saleem, M.A., Hoefele, J., Riedhammer, K.M., Gharavi, A.G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E.G., O'Donnell-Luria, A., Rehm, H.L., Mane, S., D'Agati, V.D., Pollak, M.R., Ghiggeri, G.M., Lifton, R.P., Goldstein, D.B., Davis, E.E., Hildebrandt, F. and Sanna-Cherchi, S.
American Journal of Human Genetics 108 (2): 357-367. 4 February 2021

Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome.
Wang, H., Humbatova, A., Liu, Y., Qin, W., Lee, M., Cesarato, N., Kortüm, F., Kumar, S., Romano, M.T., Dai, S., Mo, R., Sivalingam, S., Motameny, S., Wu, Y., Wang, X., Niu, X., Geng, S., Bornholdt, D., Kroisel, P.M., Tadini, G., Walter, S.D., Hauck, F., Girisha, K.M., Calza, A.M., Bottani, A., Altmüller, J., Buness, A., Yang, S., Sun, X., Ma, L., Kutsche, K., Grzeschik, K.H., Betz, R.C. and Lin, Z.
American Journal of Human Genetics 107 (1): 34-45. 2 July 2020

De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry.
Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N.T., Aprea, I., Dougherty, G.W., Pennekamp, P., Kaiser, T., Mitchison, H.M., Hogg, C., Carr, S.B., Zariwala, M.A., Ferkol, T., Leigh, M.W., Davis, S.D., Atkinson, J., Dutcher, S.K., Knowles, M.R., Thiele, H., Altmüller, J., Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., Morris-Rosendahl, D.J. and Omran, H.
American Journal of Human Genetics 105 (5): 1030-1039. 7 November 2019

Autosomal-recessive mutations in MESD cause osteogenesis imperfecta.
Moosa, S., Yamamoto, G.L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C.A., Valadares, E.R., de Sousa, S.B., Maia, S., Saraiva, J., Honjo, R.S., Kim, C.A., Cabral de Menezes, H., Lausch, E., Lorini, P.V., Lamounier, A., Carniero, T.C.B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmüller, J., Nürnberg, P., Cavalcanti, D.P., Zabel, B., Warman, M.L., Bertola, D.R., Wollnik, B. and Netzer, C.
American Journal of Human Genetics 105 (4): 836-843. 3 October 2019

Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases.
Murakami, Y., Nguyen, T.T.M., Baratang, N., Raju, P.K., Knaus, A., Ellard, S., Jones, G., Lace, B., Rousseau, J., Ajeawung, N.F., Kamei, A., Minase, G., Akasaka, M., Araya, N., Koshimizu, E., van den Ende, J., Erger, F., Altmüller, J., Krumina, Z., Strautmanis, J., Inashkina, I., Stavusis, J., El-Gharbawy, A., Sebastian, J., Puri, R.D., Kulshrestha, S., Verma, I.C., Maier, E.M., Haack, T.B., Israni, A., Baptista, J., Gunning, A., Rosenfeld, J.A, Liu, P., Joosten, M., Rocha, M.E., Hashem, M.O., Aldhalaan, H.M., Alkuraya, F.S., Miyatake, S., Matsumoto, N., Krawitz, P.M., Rossignol, E., Kinoshita, T. and Campeau, P.M.
American Journal of Human Genetics 105 (2): 384-394. 1 August 2019

Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome.
Bauer, C.K., Schneeberger, P.E., Kortüm, F., Altmüller, J., Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S.M., Campeau, P.M., Gripp, K.W. and Kutsche, K.
American Journal of Human Genetics 104 (6): 1139-1157. 6 June 2019

Rare variants in BNC2 are implicated in autosomal-dominant congenital lower urinary-tract obstruction.
Kolvenbach, C.M., Dworschak, G.C., Frese, S., Japp, A.S., Schuster, P., Wenzlitschke, N., Yilmaz, Ö., Lopes, F.M., Pryalukhin, A., Schierbaum, L., van der Zanden, L.F.M., Kause, F., Schneider, R., Taranta-Janusz, K., Szczepańska, M., Pawlaczyk, K., Newman, W.G., Beaman, G.M., Stuart, H.M., Cervellione, R.M., Feitz, W.F.J., van Rooij, I.A.L.M., Schreuder, M.F., Steffens, M., Weber, S., Merz, W.M., Feldkötter, M., Hoppe, B., Thiele, H., Altmüller, J., Berg, C., Kristiansen, G., Ludwig, M., Reutter, H., Woolf, A.S., Hildebrandt, F., Grote, P., Zaniew, M., Odermatt, B. and Hilger, A.C.
American Journal of Human Genetics 104 (5): 994-1006. 2 May 2019

The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping.
Marbach, F., Rustad, C.F., Riess, A., Đukić, D., Hsieh, T.C., Jobani, I., Prescott, T., Bevot, A., Erger, F., Houge, G., Redfors, M., Altmueller, J., Stokowy, T., Gilissen, C., Kubisch, C., Scarano, E., Mazzanti, L., Fiskerstrand, T., Krawitz, P.M., Lessel, D. and Netzer, C.
American Journal of Human Genetics 104 (4): 749-757. 4 April 2019

Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex.
Romano, M.T., Tafazzoli, A., Mattern, M., Sivalingam, S., Wolf, S., Rupp, A., Thiele, H., Altmüller, J., Nürnberg, P., Ellwanger, J., Gambon, R., Baumer, Al., Kohlschmidt, N., Metze, D., Holdenrieder, S., Paus, R., Lütjohann, D., Frank, J., Geyer, M., Bertolini, M., Kokordelis, P. and Betz, R.C.
American Journal of Human Genetics 103 (5): 777-785. 1 November 2018

Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability.
Schlingmann, K.P., Bandulik, S., Mammen, C., Tarailo-Graovac, M., Holm, R., Baumann, M., König, J., Lee, J.J.Y., Drögemöller, B., Imminger, K., Beck, B.B., Altmüller, J., Thiele, H., Waldegger, S., Van't Hoff, W., Kleta, R., Warth, R., van Karnebeek, C.D.M., Vilsen, B., Bockenhauer, D. and Konrad, M.
American Journal of Human Genetics 103 (5): 808-816. 1 November 2018

Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome.
Ghosh, S.G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K.K., Stanley, V., Manole, A., Akpulat, U., Weiss, M.M., Efthymiou, S., Hanna, M.G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmüller, J., Weixler, L., Nürnberg, P., Thiele, H., Yis, U., Okur, T.D., Polat, A.I., Amiri, N., Doosti, M., Karimani, E.G., Toosi, M.B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J.M., Wolf, N.I., Maroofian, R., Houlden, H., Cirak, S. and Gleeson, J.G.
American Journal of Human Genetics 103 (3): 431-439. 6 September 2018

Mutations in TOP3A cause a bloom syndrome-like disorder.
Martin, C.A., Sarlós, K., Logan, C.V., Thakur, R.S., Parry, D.A., Bizard, A.H., Leitch, A., Cleal, L., Ali, N.S., Al-Owain, M.A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B.A.Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M.T., Cruz-Rojo, J., Dhahrabi, H.A.M., Elcioglu, N.H., Gorman, G.S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A.J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M.J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R.W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F.S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K.E., Hickson, I.D. and Jackson, A.P.
American Journal of Human Genetics 103 (2): 221-231. 2 August 2018

Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.
Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B., Gerard, M., Bramswig, N.C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., Low, K., Weber, A., Wenzel, M., Altmüller, J., Li, Y., Wollnik, B., Hoganson, G., Plona, M.R., Cho, M.T., Thiel, C.T., Lüdecke, H.J., Strom, T.M., Calpena, E., Wilkie, A.O.M., Wieczorek, D., Engel, F.B. and Reis, A.
American Journal of Human Genetics 102 (3): 468-479. 1 March 2018

De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction.
Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A.F., Adolphs, N., Saha, N., Fauler, B., Kalscheuer, V.M., Hennig, F., Altmüller, J., Netzer, C., Thiele, H., Nürnberg, P., Yigit, G., Jäger, M., Hecht, J., Krüger, U., Mielke, T., Krawitz, P.M., Horn, D., Schuelke, M., Mundlos, S., Bacino, C.A., Bonnen, P.E., Wollnik, B., Fischer-Zirnsak, B. and Kornak, U.
American Journal of Human Genetics 101 (5): 833-843. 2 November 2017

CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays.
Windpassinger, C., Piard, J., Bonnard, C., Alfadhel, M., Lim, S., Bisteau, X., Blouin, S., Ali, N.A.B., Ng, A.Y.J., Lu, H., Tohari, S., Talib, S.Z.A., van Hul, N., Caldez, M.J., Van Maldergem, L., Yigit, G., Kayserili, H., Youssef, S.A., Coppola, V., de Bruin, A., Tessarollo, L., Choi, H., Rupp, V., Roetzer, K., Roschger, P., Klaushofer, K., Altmüller, J., Roy, S., Venkatesh, B., Ganger, R., Grill, F., Ben Chehida, F., Wollnik, B., Altunoglu, U., Al Kaissi, A., Reversade, B. and Kaldis, P.
American Journal of Human Genetics 101 (3): 391-403. 7 September 2017

Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis.
Adam, R., Spier, I., Zhao, B., Kloth, M., Marquez, J., Hinrichsen, I., Kirfel, J., Tafazzoli, A., Horpaopan, S., Uhlhaas, S., Stienen, D., Friedrichs, N., Altmüller, J., Laner, A., Holzapfel, S., Peters, S., Kayser, K., Thiele, H., Holinski-Feder, E., Marra, G., Kristiansen, G., Nöthen, M.M., Büttner, R., Möslein, G., Betz, R.C., Brieger, A., Lifton, R.P. and Aretz, S.
American Journal of Human Genetics 99 (2): 337-51. 4 August 2016

Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex.
Olbrich, H., Cremers, C., Loges, N.T., Werner, C., Nielsen, K.G., Marthin, J.K., Philipsen, M., Wallmeier, J., Pennekamp, P., Menchen, T., Edelbusch, C., Dougherty, G.W., Schwartz, O., Thiele, H., Altmüller, J., Rommelmann, F. and Omran, H.
American Journal of Human Genetics 97 (4): 546-54. 1 October 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke, N., Caliebe, A., Koenig, R., Kant, S.G., Stark, Z., Cormier-Daire, V., Wieczorek, D., Gillessen-Kaesbach, G., Hoff, K., Kawalia, A., Thiele, H., Altmüller, J., Fischer-Zirnsak, B., Knaus, A., Zhu, N., Heinrich, V., Huber, C., Harabula, I., Spielmann, M., Horn, D., Kornak, U., Hecht, J., Krawitz, P.M., Nürnberg, P., Siebert, R., Manzke, H. and Mundlos, S.
American Journal of Human Genetics 95 (6): 763-70. 4 December 2014

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Hussain, M.S., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M.R., Sakakibara, S., Altmüller, J., Thiele, H., Nürnberg, G., Moosa, S., Yigit, G., Beleggia, F., Tinschert, S., Clayton-Smith, J., Vasudevan, P., Urquhart, J.E., Donnai, D., Fryer, A., Percin, F., Brancati, F., Dobbie, A., Smigiel, R., Gillessen-Kaesbach, G., Wollnik, B., Noegel, A.A., Newman, W.G. and Nürnberg, P.
American Journal of Human Genetics 95 (5): 622-632. 6 November 2014

Mutations in POGLUT1, encoding protein o-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav, F.B., Oprisoreanu, A.M., Pasternack, S.M., Thiele, H., Fritz, G., Wenzel, J., Größer, L., Wehner, M., Wolf, S., Fagerberg, C., Bygum, A., Altmüller, J., Rütten, A., Parmentier, L., El Shabrawi-Caelen, L., Hafner, C., Nürnberg, P., Kruse, R., Schoch, S., Hanneken, S. and Betz, R.C.
American Journal of Human Genetics 94 (1): 135-143. 2 January 2014

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler, K., Malik, M., Mahmood, S., Gießelmann, S., Beetz, C., Hennings, J.C., Huebner, A.K., Grahn, A., Reunert, J., Nürnberg, G., Thiele, H., Altmüller, J., Nürnberg, P., Mumtaz, R., Babovic-Vuksanovic, D., Basel-Vanagaite, L., Borck, G., Brämswig, J., Mühlenberg, R., Sarda, P., Sikiric, A., Anyane-Yeboa, K., Zeharia, A., Ahmad, A., Coubes, C., Wada, Y., Marquardt, T., Vanderschaeghe, D., Van Schaftingen, E., Kurth, I., Huebner, A. and Hübner, C.A.
American Journal of Human Genetics 93 (4): 727-734. 3 October 2013

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen, N., Shahrzad, N., Chong, J.X., von Kleist-Retzow, J.C., Stanga, D., Li, Y., Bernier, F.P., Loucks, C.M., Wirth, R., Puffenberger, E.G., Hegele, R.A., Schreml, J., Lapointe, G., Keupp, K., Brett, C.L., Anderson, R., Hahn, A., Innes, A.M., Suchowersky, O., Mets, M.B., Nürnberg, G., McLeod, D.R., Thiele, H., Waggoner, D., Altmüller, J., Boycott, K.M., Schoser, B., Nürnberg, P., Ober, C., Heller, R., Parboosingh, J.S., Wollnik, B., Sacher, M. and Lamont, R.E.
American Journal of Human Genetics 93 (1): 181-190. 11 July 2013

American Journal of Medical Genetics A

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif, M., Mocanu, I.D., Abdullah, U., Höhne, W., Altmüller, J., Makhdoom, E.U.H., Thiele, H., Baig, S.M., Nürnberg, P., Graul-Neumann, L. and Hussain, M.S.
American Journal of Medical Genetics A 188 (4): 1251-1258. April 2022

Genomic basis of syndromic short stature in an Algerian patient cohort.
Moosa, S., Chentli, F., Altmüller, J., Bögershausen, N., Nürnberg, P., Yigit, G., Li, Y. and Wollnik, B.
American Journal of Medical Genetics A 188 (2): 606-612. February 2022

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
Lessel, D., Rading, K., Campbell, S.E., Thiele, H., Altmüller, J., Gordon, L.B. and Kubisch, C.
American Journal of Medical Genetics A 188 (1): 216-223. January 2022

Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler, H.S., Akpulat, U., Özdemir, Ö., Yis, U., Güngör, S., Talim, B., Diniz, G., Baydan, F., Thiele, H., Altmüller, J., Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185 (6): 1678-1690. 14 May 2021

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: a clinical longitudinal study.
Gangfuß, A., Yigit, G., Altmüller, J., Nürnberg, P., Czeschik, J.C., Wollnik, B., Bögershausen, N., Burfeind, P., Wieczorek, D., Kaiser, F., Roos, A., Kölbel, H., Schara-Schmidt, U. and Kuechler, A.
American Journal of Medical Genetics A 185 (4): 1216-1221. April 2021

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Bamborschke, D., Özdemir, Ö., Kreutzer, M., Motameny, S., Thiele, H., Kribs, A., Dötsch, J., Altmüller, J., Nürnberg, P. and Cirak, S.
American Journal of Medical Genetics A 185 (1): 90-96. January 2021

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Schröder, S., Wieland, B., Ohlenbusch, A., Yigit, G., Altmüller, J., Boltshauser, E., Dörk, T. and Brockmann, K.
American Journal of Medical Genetics A 182 (12): 2971-2975. December 2020

American Journal of Medical Genetics Part A

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Karakaya, M., Paketci, C., Altmueller, J., Thiele, H., Hoelker, I., Yis, U. and Wirth, B.
American Journal of Medical Genetics Part A 179 (8): 1580-1584. August 2019

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Weissbach, S., Reinert, M.C., Altmüller, J., Krätzner, R., Thiele, H., Rosenbaum, T., Nürnberg, P. and Gärtner, J.
American Journal of Medical Genetics Part A 173 (10): 2803-2807. October 2017

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Moosa, S., Haagerup, A., Gregersen, P.A., Petersen, K.K., Altmüller, J., Thiele, H., Nürnberg, P., Cho, T.J., Kim, O.H., Nishimura, G., Wollnik, B. and Vogel, I.
American Journal of Medical Genetics Part A 173 (4): 1102-1108. April 2017

Update on the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome.
Di Donato, N., Kuechler, A., Vergano, S., Heinritz, W., Bodurtha, J., Merchant, S.R., Breningstall, G., Ladda, R., Sell, S., Altmüller, J., Bögershausen, N., Timms, A.E., Hackmann, K., Schrock, E., Collins, S., Olds, C., Rump, A. and Dobyns, W.B.
American Journal of Medical Genetics Part A 170 (10): 2644-2651. October 2016

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Moosa, S., Fano, V., Obregon, M.G., Altmüller, J., Thiele, H., Nürnberg, P., Nishimura, G. and Wollnik, B.
American Journal of Medical Genetics Part A 170 (9): 2436-2439. September 2016

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: expanding the mutational spectrum.
Moosa, S., Obregon, M.G., Altmüller, J., Thiele, H., Nürnberg, P., Fano, V. and Wollnik, B.
American Journal of Medical Genetics Part A 170 (5): 1295-1301. May 2016

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Yigit, G., Wieczorek, D., Bögershausen, N., Beleggia, F., Möller-Hartmann, C., Altmüller, J., Thiele, H., Nürnberg, P. and Wollnik, B.
American Journal of Medical Genetics Part A 170 (3): 728-733. March 2016

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Gollasch, B., Basmanav, F.B., Nanda, A., Fritz, G., Mahmoudi, H., Thiele, H., Wehner, M., Wolf, S., Altmüller, J., Nürnberg, P., Frank, J. and Betz, R.C.
American Journal of Medical Genetics Part A 167 (11): 2555-2562. November 2015

Annals of Human Genetics

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko, M., Yahia, A., Elsayed, L.E., Hamed, A.A., Mohammed, I.N., Elseed, M.A., Hamad, M.H.A., Babai, A.M., Siddig, R.A., Abd Allah, A.S.I., Mohamed, M., El-Amin, M., Esteves, T., Altmüller, J., Toliat, M.R., Thiele, H., Nürnberg, P., Salih, M.A., Ahmed, A.E., Lerche, H. and Stevanin, G.
Annals of Human Genetics 85 (5): 186-195. September 2021

Annals of Neurology

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute, N., Leu, C., Pogoda, H.M., Arno, G., Robson, A.G., Nürnberg, G., Altmüller, J., Thiele, H., Motameny, S., Toliat, M.R., Powell, K., Höhne, W., Michaelides, M., Webster, A.R., Moore, A.T., Hammerschmidt, M., Nürnberg, P., Yu-Wai-Man, P. and Votruba, M.
Annals of Neurology 86 (3): 368-383. September 2019

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella, E., Becker, F., Møller, R.S., Schubert, J., Lemke, J.R., Larsen, L.H.G., Eiberg, H., Nothnagel, M., Thiele, H., Altmüller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nürnberg, P., Mang, Y., Bakke Møller, L., Gellert, P., Heron, S.E., Dibbens, L.M., Weckhuysen, S., Dahl, H.A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S. and Weber, Y.G.
Annals of Neurology 79 (3): 428-436. March 2016

Rare variants in GABA(A) receptor genes in Rolandic epilepsy and related syndromes.
Reinthaler, E.M., Dejanovic, B., Lal, D., Semtner, M., Merkler, Y., Reinhold, A., Pittrich, D.A., Hotzy, C., Feucht, M., Steinboeck, H., Gruber-Sedlmayr, U., Ronen, G., Neophytou, B., Geldner, J., Haberlandt, E., Muhle, H., Ikram, M.A., van Duijn, CM., Uitterlinden, A.G., Hofman, A., Altmüller, J., Kawalia, A., Toliat, M.R., Nuernberg, P., Lerche, H., Nothnagel, M., Thiele, H., Sander, T., Meier, J.C., Schwarz, G., Neubauer, B.A. and Zimprich, F.
Annals of Neurology 77 (6): 972-986. June 2015

DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal, D., Reinthaler, E.M., Schubert, J., Muhle, H., Riesch, E., Kluger, G., Jabbari, K., Kawalia, A., Bäumel, C., Holthausen, H., Hahn, A., Feucht, M., Neophytou, B., Haberlandt, E., Becker, F., Altmüller, J., Thiele, H., Lemke, J.R., Lerche, H., Nürnberg, P., Sander, T., Weber, Y., Zimprich, F. and Neubauer, B.A.
Annals of Neurology 75 (5): 788-792. May 2014

Antioxidants

The fate of oxidative strand breaks in mitochondrial DNA.
Trombly, G., Said, A.M., Kudin, A.P., Peeva, V., Altmüller, J., Becker, K., Köhrer, K., Zsurka, G. and Kunz, W.S.
Antioxidants 12 (5): 1087. 12 May 2023

Archives of Biochemistry and Biophysics

OR2H2 regulates the differentiation of human myoblast cells by its ligand aldehyde 13-13.
Kalbe, B., Osterloh, M., Schulz, V.M., Altmüller, J., Becker, C., Osterloh, S. and Hatt, H.
Archives of Biochemistry and Biophysics 645 : 72-80. 1 May 2018

BMC Genomics

Deciphering the genetic basis of microcystin tolerance.
Schwarzenberger, A., Sadler, T., Motameny, S., Ben-Khalifa, K., Frommolt, P., Altmüller, J., Konrad, K. and von Elert, E.
BMC Genomics 15 : 776. 9 September 2014

The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda.
Schiffer, P.H., Kroiher, M., Kraus, C., Koutsovoulos, G.D., Kumar, S., Camps, J.I.R., Nsah, N.A., Stappert, D., Morris, K., Heger, P., Altmüller, J., Frommolt, P., Nürnberg, P., Thomas, W.K., Blaxter, M.L. and Schierenberg, E.
BMC Genomics 14 : 923. 27 December 2013

BMC Pulmonary Medicine

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
Altmüller, J., Seidel, C., Lee, Y.A., Loesgen, S., Bulle, D., Friedrichs, F., Jellouschek, H., Kelber, J., Keller, A., Schuster, A., Silbermann, M., Wahlen, W., Wolff, P., Rueschendorf, F., Schlenvoigt, G., Nuernberg, P. and Wjst, M.
BMC Pulmonary Medicine 5 : 1. 5 January 2005

Biological Chemistry

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.
Altmüller, J., Motameny, S., Becker, C., Thiele, H., Chatterjee, S., Wollnik, B. and Nürnberg, P.
Biological Chemistry 397 (8): 791-801. 1 August 2016

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics.
Altmüller, J., Budde, B.S. and Nürnberg, P.
Biological Chemistry 395 (2): 231-237. 1 February 2014

Biomedicines

Generation of hiPSC-derived skeletal muscle cells: exploiting the potential of skeletal muscle-derived hiPSCs.
Metzler, E., Escobar, H., Sunaga-Franze, D.Y., Sauer, S., Diecke, S. and Spuler, S.
Biomedicines 10 (5): 1204. 23 May 2022

Birth Defects Research

HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Kause, F., Zhang, R., Ludwig, M., Schmiedeke, E., Rissmann, A., Thiele, H., Altmueller, J., Herms, S., Hilger, A.C., Hildebrandt, F. and Reutter, H.
Birth Defects Research 111 (10): 591-597. 1 June 2019

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Weitensteiner, V., Zhang, R., Bungenberg, J., Marks, M., Gehlen, J., Ralser, D.J., Hilger, A.C., Sharma, A., Schumacher, J., Gembruch, U., Merz, W.M., Becker, A., Altmüller, J., Thiele, H., Herrmann, B.G., Odermatt, B., Ludwig, M. and Reutter, H.
Birth Defects Research 110 (7): 587-597. 17 April 2018

Blood

Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia.
Jiang, Q., Stachelscheid, J., Bloehdorn, J., Pacholewska, A., Aszyk, C.M., Grotenhuijs, F., Müller, T.A., Onder, O., Wagle, P., Herling, C.D., Kleppe, M., Wang, Z., Coombes, K.R., Robrecht, S., Dalvi, P.S., Plosnita, B., Mayer, P., Abruzzo, L.V., Altmüller, J., Gathof, B.S., Persigehl, T., Fischer, K., Jebaraj, B.M.C., Rienhoff, H.Y., Ecker, R.C., Zhao, Y., Bruns, C.J., Stilgenbauer, S., Elenitoba-Johnson, K.S.J., Hallek, M., Schweiger, M.R., Odenthal, M., Vasyutina, E. and Herling, M.
Blood 142 (1): 44-61. 6 July 2023

Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies.
Thomalla, D., Beckmann, L., Grimm, C., Oliverio, M., Meder, L., Herling, C.D., Nieper, P., Feldmann, T., Merkel, O., Lorsy, E., da Palma Guerreiro, A., von Jan, J., Kisis, I., Wasserburger, E., Claasen, J., Faitschuk-Meyer, E., Altmüller, J., Nürnberg, P., Yang, T.P., Lienhard, M., Herwig, R., Kreuzer, K.A., Pallasch, C.P., Buettner, R., Schäfer, S.C., Hartley, J., Abken, H., Peifer, M., Kashkar, H., Knittel, G., Eichhorst, B., Ullrich, R.T., Herling, M., Reinhardt, H.C., Hallek, M., Schweiger, M.R. and Frenzel, L.P.
Blood 140 (20): 2113-2126. 17 November 2022

Noncanonical effector functions of the T-memory-like T-PLL cell are shaped by cooperative TCL1A and TCR signaling.
Oberbeck, S., Schrader, A., Warner, K., Jungherz, D., Crispatzu, G., von Jan, J., Chmielewski, M., Ianevski, A., Diebner, H.H., Mayer, P., Kondo Ados, A., Wahnschaffe, L., Braun, T., Müller, T.A., Wagle, P., Bouska, A., Neumann, T., Pützer, S., Varghese, L., Pflug, N., Thelen, M., Makalowski, J., Riet, N., Göx, H.J.M, Rappl, G., Altmüller, J., Kotrová, M., Persigehl, T., Hopfinger, G., Hansmann, M.L., Schlößer, H., Stilgenbauer, S., Dürig, J., Mougiakakos, D., von Bergwelt-Baildon, M., Roeder, I., Hartmann, S., Hallek, M., Moriggl, R., Brüggemann, M., Aittokallio, T., Iqbal, J., Newrzela, S., Abken, H. and Herling, M.
Blood 136 (24): 2786-2802. 10 December 2020

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma.
Wagener, R., Seufert, J., Raimondi, F., Bens, S., Kleinheinz, K., Nagel, I., Altmüller, J., Thiele, H., Hübschmann, D., Kohler, C.W., Nürnberg, P., Au-Yeung, R., Burkhardt, B., Horn, H., Leoncini, L., Jaffe, E.S., Ott, G., Rymkiewicz, G., Schlesner, M., Russell, R.B., Klapper, W. and Siebert, R.
Blood 133 (9): 962-966. 28 February 2019

IG-MYC(+) neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas.
Wagener, R., López, C., Kleinheinz, K., Bausinger, J., Aukema, S.M., Nagel, I., Toprak, U.H., Seufert, J., Altmüller, J., Thiele, H., Schneider, C., Kolarova, J., Park, J., Hübschmann, D., Murga Penas, E.M., Drexler, H.G., Attarbaschi, A., Hovland, R., Kjeldsen, E., Kneba, M., Kontny, U., de Leval, L., Nürnberg, P., Oschlies, I., Oscier, D., Schlegelberger, B., Stilgenbauer, S., Wössmann, W., Schlesner, M., Burkhardt, B., Klapper, W., Jaffe, E.S., Küppers, R. and Siebert, R.
Blood 132 (21): 2280-2285. 22 November 2018

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.
Herling, C.D., Klaumünzer, M., Rocha, C.K., Altmüller, J., Thiele, H., Bahlo, J., Kluth, S., Crispatzu, G., Herling, M., Schiller, J., Engelke, A., Tausch, E., Döhner, H., Fischer, K., Goede, V., Nürnberg, P., Reinhardt, H.C., Stilgenbauer, S., Hallek, M. and Kreuzer, K.A.
Blood 128 (3): 395-404. 21 July 2016

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M.G., Niethammer, K., Fuchs, S., Eckl, K.M., Plank, R., Werner, R., Altmüller, J., Thiele, H., Nürnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G.M., Lehmberg, K., Hennies, H.C. and Ehl, S.
Blood 127 (8): 997-1006. 25 February 2016

Blood Cancer Discovery

An autochthonous mouse model of Myd88- and BCL2-driven diffuse large B-cell lymphoma reveals actionable molecular vulnerabilities.
Flümann, R., Rehkämper, T., Nieper, P., Pfeiffer, P., Holzem, A., Klein, S., Bhatia, S., Kochanek, M., Kisis, I., Pelzer, B.W., Ahlert, H., Hauer, J., da Palma Guerreiro, A., Ryan, J.A., Reimann, M., Riabinska, A., Wiederstein, J., Krüger, M., Deckert, M., Altmüller, J., Klatt, A.R., Frenzel, L.P., Pasqualucci, L., Béguelin, W., Melnick, A.M., Sander, S., Montesinos-Rongen, M., Brunn, A., Lohneis, P., Büttner, R., Kashkar, H., Borkhardt, A., Letai, A., Persigehl, T., Peifer, M., Schmitt, C.A., Reinhardt, H.C. and Knittel, G.
Blood Cancer Discovery 2 (1): 70-91. January 2021

Brain

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera, J.A., Leu, C., Macnee, M., Khoury, J., Hoffmann, L., Coras, R., Kobow, K., Bhattarai, N., Pérez-Palma, E., Hamer, H., Brandner, S., Rössler, K., Bien, C.G., Kalbhenn, T., Pieper, T., Hartlieb, T., Butler, E., Genovese, G., Becker, K., Altmüller, J., Niestroj, L.M., Ferguson, L., Busch, R.M., Nürnberg, P., Najm, I., Blümcke, I. and Lal, D.
Brain 146 (4): 1342-1356. April 2023

Mutations in TAF8 cause a neurodegenerative disorder.
Wong, K.M., Jepsen, W.M., Efthymiou, S., Salpietro, V., Sanchez-Castillo, M., Yip, J., Kriouile, Y., Diegmann, S., Dreha-Kulaczewski, S., Altmüller, J., Thiele, H., Nürnberg, P., Toosi, M.B., Akhondian, J., Ghayoor Karimiani, E., Hummel-Abmeier, H., Huppke, B., Houlden, H., Gärtner, J., Maroofian, R. and Huppke, P.
Brain 145 (9): 3022-3034. September 2022

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad, C.E., Lev, D., Kalscheuer, V.M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H.Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M., Rzonca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmüller, J., Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S.A., Nürnberg, P., van Gassen, K.L.I., Lerche, H., Zara, F., Maljevic, S. and Leshinsky-Silver, E.
Brain 140 (11): 2879-2894. 1 November 2017

CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia, E.C., Myers, C.T., Leu, C., de Kovel, C.G.F., Afrikanova, T., Cordero-Maldonado, M.L., Martins, T.G., Jacmin, M., Drury, S., Krishna Chinthapalli, V., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A.K., Møller, R.S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A.E., Nürnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Gaudio, L.D., Boustred, C., Schneider, A.L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L.G., Mullen, S.A., Berkovic, S.F, Stephani, U., Helbig, I., Crawford, A.D., Esguerra, C.V., Kasteleijn-Nolst Trenité, D.G.A., Koeleman, B.P.C., Mefford, H.C., Scheffer, I.E. and Sisodiya, S.M.
Brain 138 (5): 1198-1207. May 2015

Brain Communications

A novel remitting leukodystrophy associated with a variant in FBP2.
Gizak, A., Diegmann, S., Dreha-Kulaczewski, S., Wiśniewski, J., Duda, P., Ohlenbusch, A., Huppke, B., Henneke, M., Höhne, W., Altmüller, J., Thiele, H., Nürnberg, P., Rakus, D., Gärtner, J. and Huppke, P.
Brain Communications 3 (2): fcab036. 11 March 2021

Breast Cancer Research

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horváth, J., Niederacher, D., Arnold, N., Kaulfuß, S., Ernst, C., Paul, V.G., Honisch, E., Klaschik, K., Volk, A.E., Kubisch, C., Rapp, S., Lichey, N., Altmüller, J., Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nürnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R.K., Hahnen, E. and Hauke, J.
Breast Cancer Research 21 (1): 55. 29 April 2019

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Weber-Lassalle, N., Hauke, J., Ramser, J., Richters, L., Groß, E., Blümcke, B., Gehrig, A., Kahlert, A.K., Müller, C.R., Hackmann, K., Honisch, E., Weber-Lassalle, K., Niederacher, D., Borde, J., Thiele, H., Ernst, C., Altmüller, J., Neidhardt, G., Nürnberg, P., Klaschik, K., Schroeder, C., Platzer, K., Volk, A.E., Wang-Gohrke, S., Just, W., Auber, B., Kubisch, C., Schmidt, G., Horvath, J., Wappenschmidt, B., Engel, C., Arnold, N., Dworniczak, B., Rhiem, K., Meindl, A., Schmutzler, R.K. and Hahnen, E.
Breast Cancer Research 20 (1): 7. 24 January 2018

Breast Cancer: Targets and Therapy

Expression and functionality of TRPV1 in breast cancer cells.
Weber, L.V., Al-Refae, K., Wölk, G., Bonatz, G., Altmüller, J., Becker, C., Gisselmann, G. and Hatt, H.
Breast Cancer: Targets and Therapy 8 : 243-252. 13 December 2016

Briefings in Bioinformatics

A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover.
Boileau, E., Altmüller, J., Naarmann-de Vries, I.S. and Dieterich, C.
Briefings in Bioinformatics 22 (6): bbab219. November 2021

British Journal of Cancer

Genomic ALK alterations in primary and relapsed neuroblastoma.
Rosswog, C., Fassunke, J., Ernst, A., Schömig-Markiefka, B., Merkelbach-Bruse, S., Bartenhagen, C., Cartolano, M., Ackermann, S., Theissen, J., Blattner-Johnson, M., Jones, B., Schramm, K., Altmüller, J., Nürnberg, P., Ortmann, M., Berthold, F., Peifer, M., Büttner, R., Westermann, F., Schulte, J.H., Simon, T., Hero, B. and Fischer, M.
British Journal of Cancer 128 (8): 1559-1571. 12 April 2023

British Journal of Dermatology

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.
Harms, F.L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V.V., Alawi, M., Altmüller, J., Yesodharan, D. and Kutsche, K.
British Journal of Dermatology 179 (5): 1192-1194. 1 November 2018

Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
Ralser, D.J., Lestringant, G.G., Du-Thanh, A., Kokordelis, P., Fischer, J., Basmanav, F.B.Ü., Wolf, S., Thiele, H., Altmüller, J., Nürnberg, P., Oji, V., Fritz, G., Frank, J. and Betz, R.C.
British Journal of Dermatology 177 (6): e340-e343. 8 January 2018

Cancer Discovery

CD74–NRG1 fusions in lung adenocarcinoma.
Fernandez-Cuesta, L., Plenker, D., Osada, H., Sun, R., Menon, R., Leenders, F., Ortiz-Cuaran, S., Peifer, M., Bos, M., Daßler, J., Malchers, F., Schöttle, J., Vogel, W., Dahmen, I., Koker, M., Ullrich, R.T., Wright, G.M., Russell, P.A., Wainer, Z., Solomon, B., Brambilla, E., Nagy-Mignotte, H., Moro-Sibilot, D., Brambilla, C.G., Lantuejoul, S., Altmüller, J., Becker, C., Nürnberg, P., Heuckmann, J.M., Stoelben, E., Petersen, I., Clement, J.H., Sänger, J., Muscarella, L.A., la Torre, A., Fazio, V.M., Lahortiga, I., Perera, T., Ogata, S., Parade, M., Brehmer, D., Vingron, M., Heukamp, L.C., Buettner, R., Zander, T., Wolf, J., Perner, S., Ansén, S., Haas, S.A., Yatabe, Y. and Thomas, R.K.
Cancer Discovery 4 (4): 415-22. 1 April 2014

Cancer Medicine

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Hauke, J., Horvath, J., Groß, E., Gehrig, A., Honisch, E., Hackmann, K., Schmidt, G., Arnold, N., Faust, U., Sutter, C., Hentschel, J., Wang-Gohrke, S., Smogavec, M., Weber, B.H.F., Weber-Lassalle, N., Weber-Lassalle, K., Borde, J., Ernst, C., Altmüller, J., Volk, A.E., Thiele, H., Hübbel, V., Nürnberg, P., Keupp, K., Versmold, B., Pohl, E., Kubisch, C., Grill, S., Paul, V., Herold, N., Lichey, N., Rhiem, K., Ditsch, N., Ruckert, C., Wappenschmidt, B., Auber, B., Rump, A., Niederacher, D., Haaf, T., Ramser, J., Dworniczak, B., Engel, C., Meindl, A., Schmutzler, R.K. and Hahnen, E.
Cancer Medicine 7 (4): 1349-1358. April 2018

Cancer Research

Noncanonical function of AGO2 augments T-cell receptor signaling in T-cell prolymphocytic leukemia.
Braun, T., Stachelscheid, J., Bley, N., Oberbeck, S., Otte, M., Müller, T.A., Wahnschaffe, L., Glaß, M., Ommer, K., Franitza, M., Gathof, B., Altmüller, J., Hallek, M., Auguin, D., Hüttelmaier, S., Schrader, A. and Herling, M.
Cancer Research 82 (9): 1818-1831. 1 May 2022

Cancers

Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry.
Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B.J., Dubois, S., Collin-Deschesnes, A.C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A., Adank, M.A., Allen, J., Altmüller, J., Arnold, N., Ausems, M.G.E.M., Berutti, R., Bolla, M.K., Bull, S., Carvalho, S., Cornelissen, S., Dufault, M.R., Dunning, A.M., Engel, C., Gehrig, A., Geurts-Giele, W.R.R., Gieger, C., Green, J., Hackmann, K., Helmy, M., Hentschel, J., Hogervorst, F.B.L., Hollestelle, A., Hooning, M.J., Horváth, J., Ikram, M.A., Kaulfuß, S., Keeman, R., Kuang, D., Luccarini, C., Maier, W., Martens, J.W.M., Niederacher, D., Nürnberg, P., Ott, C.E., Peters, A., Pharoah, P.D.P., Ramirez, A., Ramser, J., Riedel-Heller, S., Schmidt, G., Shah, M., Scherer, M., Stäbler, A., Strom, T.M., Sutter, C., Thiele, H., van Asperen, C.J., van der Kolk, L., van der Luijt, R.B., Volk, A.E., Wagner, M., Waisfisz, Q., Wang, Q., Wang-Gohrke, S., Weber, B.H.F., Devilee, P., Tavtigian, S., Bader, G.D., Meindl, A., Goldgar, D.E., Andrulis, I.L., Schmutzler, R.K., Easton, D.F., Schmidt, M.K., Hahnen, E. and Simard, J.
Cancers 14 (14): 3363. 11 July 2022

Prevalence of cancer predisposition germline variants in male breast cancer patients: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Rolfes, M., Borde, J., Möllenhoff, K., Kayali, M., Ernst, C., Gehrig, A., Sutter, C., Ramser, J., Niederacher, D., Horváth, J., Arnold, N., Meindl, A., Auber, B., Rump, A., Wang-Gohrke, S., Ritter, J., Hentschel, J., Thiele, H., Altmüller, J., Nürnberg, P., Rhiem, K., Engel, C., Wappenschmidt, B., Schmutzler, R.K., Hahnen, E. and Hauke, J.
Cancers 14 (13): 3292. 5 July 2022

(RB1)-negative retinal organoids display proliferation of cone photoreceptors and loss of retinal differentiation.
Kanber, D., Woestefeld, J., Döpper, H., Bozet, M., Brenzel, A., Altmüller, J., Kilpert, F., Lohmann, D., Pommerenke, C. and Steenpass, L.
Cancers 14 (9): 2166. 26 April 2022

Canine Genetics and Epidemiology

A large deletion in RPGR causes XLPRA in Weimaraner dogs.
Kropatsch, R., Akkad, D.A., Frank, M., Rosenhagen, C., Altmüller, J., Nürnberg, P., Epplen, J.T. and Dekomien, G.
Canine Genetics and Epidemiology 3 : 7. 8 July 2016

Cell Reports

Intercellular extrachromosomal DNA copy-number heterogeneity drives neuroblastoma cell state diversity.
Stöber, M.C., Chamorro González, R., Brückner, L., Conrad, T., Wittstruck, N., Szymansky, A., Eggert, A., Schulte, J.H., Koche, R.P., Henssen, A.G., Schwarz, R.F. and Haase, K.
Cell Reports 43 (9): 114711. 24 September 2024

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley, A.V., Gutiérrez-Gutiérrez, Ó., Hammer, E., Koitka, F., Mirzaiebadizi, A., Steinegger, M., Pape, C., Böhmer, L., Schroeder, H., Kleinsorge, M., Engler, M., Cirstea, I.C., Gremer, L., Willbold, D., Altmüller, J., Marbach, F., Hasenfuss, G., Zimmermann, W.H., Ahmadian, M.R., Wollnik, B. and Cyganek, L.
Cell Reports 43 (7): 114448. 23 July 2024

The Wnt-driven Mll1 epigenome regulates salivary gland and head and neck cancer.
Zhu, Q., Fang, L., Heuberger, J., Kranz, A., Schipper, J., Scheckenbach, K., Oliveira Vidal, R., Sunaga-Franze, D.Y., Müller, M., Wulf-Goldenberg, A., Sauer, S. and Birchmeier, W.
Cell Reports 26 (2): 415-428. 8 January 2019

Transient N-6-methyladenosine transcriptome sequencing reveals a regulatory role of m6A in splicing efficiency.
Louloupi, A., Ntini, E., Conrad, T. and Ørom, U.A.V.
Cell Reports 23 (12): 3429-3437. 19 June 2018

Cell Stem Cell

Human brain organoids assemble functionally integrated bilateral optic vesicles.
Gabriel, E., Albanna, W., Pasquini, Gi., Ramani, A., Josipovic, N., Mariappan, A., Schinzel, F., Karch, C.M., Bao, G., Gottardo, M., Suren, A.A., Hescheler, J., Nagel-Wolfrum, K., Persico, V., Rizzoli, S.O., Altmüller, J., Riparbelli, M.G., Callaini, G., Goureau, O., Papantonis, A., Busskamp, V., Schneider, T. and Gopalakrishnan, J.
Cell Stem Cell 28 (10): 1740-1757.e8. October 2021

Resolving fates and single-cell transcriptomes of hematopoietic stem cell clones by PolyloxExpress barcoding.
Pei, W., Shang, F., Wang, X., Fanti, A.K., Greco, A., Busch, K., Klapproth, K., Zhang, Q., Quedenau, C., Sauer, S., Feyerabend, T.B., Höfer, T. and Rodewald, H.R.
Cell Stem Cell 27 (3): 383-395. 3 September 2020

Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M., Fischer, C., Urzi, A., Vidal, R., Kunz, S., Ruffault, P.L., Kabuss, L., Hube, I., Gazzerro, E., Birchmeier, C., Spuler, S., Sauer, S. and Gouti, M.
Cell Stem Cell 26 (2): 172-186. 6 February 2020

Cell and Bioscience

Reliable assessment of telomere maintenance mechanisms in neuroblastoma.
Meeser, A., Bartenhagen, C., Werr, L., Hellmann, A.M., Kahlert, Y., Hemstedt, N., Nürnberg, P., Altmüller, J., Ackermann, S., Hero, B., Simon, T., Peifer, M., Fischer, M. and Rosswog, C.
Cell and Bioscience 12 (1): 160. 24 September 2022

Cells

CALINCA - a novel pipeline for the identification of lncRNAs in podocyte disease.
Talyan, S., Filipów, S., Ignarski, M., Smieszek, M., Chen, H., Kühne, L., Butt, L., Göbel, H., Hoyer-Allo, K.J.R., Koehler, F.C., Altmüller, J., Brinkkötter, P., Schermer, B., Benzing, T., Kann, M., Müller, R.U. and Dieterich, C.
Cells 10 (3): 692. March 2021

Chemical Senses

Transcriptome analysis of murine olfactory sensory neurons during development using single cell RNA-Seq.
Scholz, P., Kalbe, B., Jansen, F., Altmüller, J., Becker, C., Mohrhardt, J., Schreiner, B., Gisselmann, G., Hatt, H. and Osterloh, S.
Chemical Senses 41 (4): 313-323. May 2016

Circulation

Mutant phosphodiesterase 3A protects from hypertension-induced cardiac damage.
Ercu, M., Mücke, M.B., Pallien, T., Markó, L., Sholokh, A., Schächterle, C., Aydin, A., Kidd, A., Walter, S., Esmati, Y., McMurray, B.J., Lato, D.F., Sunaga-Franze, D.Y., Dierks, P.H., Flores, B.I.M., Walker-Gray, R., Gong, M., Merticariu, C., Zühlke, K., Russwurm, M., Liu, T., Batolomaeus, T.U.P., Pautz, S., Schelenz, S., Taube, M., Napieczynska, H., Heuser, A., Eichhorst, J., Lehmann, M., Miller, D.C., Diecke, S., Qadri, F., Popova, E., Langanki, R., Movsesian, M.A., Herberg, F.W., Forslund, S.K., Müller, D.N., Borodina, T., Maass, P.G., Bähring, S., Hübner, N., Bader, M. and Klussmann, E.
Circulation 146 (23): 1758-1778. 6 December 2022

Intronic CRISPR repair in a preclinical model of Noonan syndrome-associated cardiomyopathy.
Hanses, U., Kleinsorge, M., Roos, L., Yigit, G., Li, Y., Barbarics, B., El-Battrawy, I., Lan, H., Tiburcy, M., Hindmarsh, R., Lenz, C., Salinas, G., Diecke, S., Müller, C., Adham, I., Altmüller, J., Nürnberg, P., Paul, T., Zimmermann, W.H., Hasenfuss, G., Wollnik, B. and Cyganek, L.
Circulation 142 (11): 1059-1076. 15 September 2020

Circulation Research

Intramyocardial sprouting tip cells specify coronary arterialization.
Cano, E., Schwarzkopf, J., Kanda, M., Lindberg, E.L., Hollfinger, I., Pogontke, C., Braeuning, C., Fischer, C., Hübner, N. and Gerhardt, H.
Circulation Research 135 (6): 671-684. 30 August 2024

Clinical Cancer Research

Heterogeneous mechanisms of primary and acquired resistance to third-generation EGFR inhibitors.
Ortiz-Cuaran, S., Scheffler, M., Plenker, D., Dahmen, L., Scheel, A.H., Fernandez-Cuesta, L., Meder, L., Lovly, C.M., Persigehl, T., Merkelbach-Bruse, S., Bos, M., Michels, S., Fischer, R., Albus, K., König, K., Schildhaus, H.U., Fassunke, Jana, Ihle, M.A., Pasternack, H., Heydt, C., Becker, C., Altmüller, J., Ji, H., Müller, C., Florin, A., Heuckmann, J.M., Nuernberg, P., Ansén, S., Heukamp, L.C., Berg, J., Pao, W., Peifer, M., Buettner, R., Wolf, J., Thomas, R.K. and Sos, M.L.
Clinical Cancer Research 22 (19): 4837-4847. 2 October 2016

Clinical Epigenetics

Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine.
Herberg, M., Siebert, S., Quaas, M., Thalheim, T., Rother, K., Hussong, M., Altmüller, J., Kerner, C., Galle, J., Schweiger, M.R. and Aust, G.
Clinical Epigenetics 11 (1): 65. 27 April 2019

Clinical Genetics

Expanding the spectrum of EEF1D neurodevelopmental disorders: biallelic variants in the guanine exchange domain.
Averdunk, L., Al-Thihli, K., Surowy, H., Lüdecke, H.J., Drechsler, M., Yigit, G., Smorag, L., Hallak, B.A., Li, Y., Altmüller, J., Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Abou Jamra, R., Al-Maawali, A. and Wieczorek, D.
Clinical Genetics 103 (4): 484-491. April 2023

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc, I.I., Elcioglu, N.H., Martinez Grijalva, C., Aras, S., Großmann, N., Praulich, I., Altmüller, J., Kaulfuß, S., Li, Y., Nürnberg, P., Burfeind, P., Yigit, G. and Wollnik, B.
Clinical Genetics 101 (5-6): 559-564. May 2022

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde, B.S., Aly, M.A., Mohamed, M.R., Breß, A., Altmüller, J., Motameny, S., Kawalia, A., Thiele, H., Konrad, K., Becker, C., Toliat, M.R., Nürnberg, G., Sayed, E.A.F., Mohamed, E.S., Pfister, M. and Nürnberg, P.
Clinical Genetics 98 (1): 32-42. July 2020

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Moosa, S., Loeys, B., Altmüller, J., Mortier, G., Nürnberg, P., Li, Y., Wollnik, B. and Vogel, I.
Clinical Genetics 92 (3): 342-343. September 2017

Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad, I., Baig, S.M., Abdulkareem, A.R., Hussain, M.S., Sur, I., Toliat, M.R., Nürnberg, G., Dalibor, N., Moawia, A., Waseem, S.S., Asif, M., Nagra, H., Sher, M., Khan, M.M.A., Hassan, I., Rehman, S.U., Thiele, H., Altmüller, J., Noegel, A.A. and Nürnberg, P.
Clinical Genetics 92 (1): 62-68. July 2017

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Moosa, S., Chung, B.H.Y., Tung, J.Y.L., Altmüller, J., Thiele, H., Nürnberg, P., Netzer, C., Nishimura, G. and Wollnik, B.
Clinical Genetics 89 (4): 517-519. April 2016

Clinical Infectious Diseases

Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection clusters based on integrated genomic surveillance, outbreak analysis and contact tracing in an urban setting.
Walker, A., Houwaart, T., Finzer, P., Ehlkes, L., Tyshaieva, A., Damagnez, M., Strelow, D., Duplessis, A., Nicolai, J., Wienemann, T., Tamayo, T., Kohns Vasconcelos, M., Hülse, L., Hoffmann, K., Lübke, N., Hauka, S., Andree, M., Däumer, M.P., Thielen, A., Kolbe-Busch, S., Göbels, K., Zotz, R., Pfeffer, K., Timm, J. and Dilthey, A.T.
Clinical Infectious Diseases 74 (6): 1039-1046. 15 March 2022

Clinical Nephrology

Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies.
Hackl, A., Erger, F., Skerka, C., Wenzel, A., Tschernoster, N., Ehren, R., Burgmaier, K., Riehmer, V., Licht, C., Kirschfink, M., Weber, L.T., Altmueller, J., Zipfel, P.F. and Habbig, S.
Clinical Nephrology 94 (4): 197-206. October 2020

Cold Spring Harbor Molecular Case Studies

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
Alawbathani, S., Kawalia, A., Karakaya, M., Altmüller, J., Nürnberg, P. and Cirak, S.
Cold Spring Harbor Molecular Case Studies 4 (1): a002139. 19 December 2017

Communications Biology

Diverse but unique astrocytic phenotypes during embryonic stem cell differentiation, culturing and development.
Freitag, K., Eede, P., Ivanov, A., Sterczyk, N., Schneeberger, S., Borodina, T., Sauer, S., Beule, D. and Heppner, F.L.
Communications Biology 6 (1): 40. 13 January 2023

Maximizing transcription of nucleic acids with efficient T7 promoters.
Conrad, T., Plumbom, I., Alcobendas, M., Vidal, R. and Sauer, S.
Communications Biology 3 (1): 439. 14 August 2020

Current Biology

Inflammation and convergent placenta gene co-option contributed to a novel reproductive tissue.
Hilgers, L., Roth, O., Nolte, A.W., Schüller, A., Spanke, T., Flury, J.M., Utama, I.V., Altmüller, J., Wowor, D., Misof, B., Herder, F., Böhne, A. and Schwarzer, J.
Current Biology 32 (3): 715-724. 7 February 2022

EClinicalMedicine

Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01.
Weiner, J., Suwalski, P., Holtgrewe, M., Rakitko, A., Thibeault, C., Müller, M., Patriki, D., Quedenau, C., Krüger, U., Ilinsky, V., Popov, I., Balnis, J., Jaitovich, A., Helbig, E.T., Lippert, L.J., Stubbemann, P., Real, L.M., Macías, J., Pineda, J.A., Fernandez-Fuertes, M., Wang, X., Karadeniz, Z., Saccomanno, J., Doehn, J.M., Hübner, R.H., Hinzmann, B., Salvo, M., Blueher, A., Siemann, S., Jurisic, S., Beer, J.H., Rutishauser, J., Wiggli, B., Schmid, H., Danninger, K., Binder, R., Corman, V.M., Mühlemann, B., Arjun Arkal, R., Fragiadakis, G.K., Mick, E., Calfee, C.S., Erle, D.J., Hendrickson, C.M., Kangelaris, K.N., Krummel, M.F., Woodruff, P.G., Langelier, C.R., Venkataramani, U., García, F., Zyla, J., Drosten, C., Braun, A., Jones, T.C., Suttorp, N., Witzenrath, M., Hippenstiel, S., Zemojtel, T., Skurk, C., Wolfgang, P., Borodina, T., Ripke, S., Sander, L.E., Beule, D., Landmesser, U., Guettouche, T., Kurth, F. and Heidecker, B.
EClinicalMedicine 40 : 101099. October 2021

EMBO Journal

Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay.
Wallmeroth, D., Lackmann, J.W., Kueckelmann, S., Altmüller, J., Dieterich, C., Boehm, V. and Gehring, N.H.
EMBO Journal 41 (10): e109191. 16 May 2022

EMBO Molecular Medicine

Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.
Theobald, S.J., Simonis, A., Georgomanolis, T., Kreer, C., Zehner, M., Eisfeld, H.S., Albert, M.C., Chhen, J., Motameny, S., Erger, F., Fischer, J., Malin, J.J., Gräb, J., Winter, S., Pouikli, A., David, F., Böll, B., Koehler, P., Vanshylla, K., Gruell, H., Suárez, I., Hallek, M., Fätkenheuer, G., Jung, N., Cornely, O.A., Lehmann, C., Tessarz, P., Altmüller, J., Nürnberg, P., Kashkar, H., Klein, F., Koch, M. and Rybniker, J.
EMBO Molecular Medicine 13 (8): e14150. 9 August 2021

Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity.
Koch, C., Kuske, A., Joosse, S.A., Yigit, G., Sflomos, G., Thaler, S., Smit, D.J., Werner, S., Borgmann, K., Gärtner, S., Mossahebi Mohammadi, P., Battista, L., Cayrefourcq, L., Altmüller, J., Salinas-Riester, G., Raithatha, K., Zibat, A., Goy, Y., Ott, L., Bartkowiak, K., Tan, T.Z., Zhou, Q., Speicher, M.R., Müller, V., Gorges, T.M., Jücker, M., Thiery, J.P., Brisken, C., Riethdorf, S., Alix-Panabières, C. and Pantel, K.
EMBO Molecular Medicine 12 (9): e11908. 7 September 2020

Environment International

Pathogen dynamics and discovery of novel viruses and enzymes by deep nucleic acid sequencing of wastewater.
Wyler, E., Lauber, C., Manukyan, A., Deter, A., Quedenau, C., Teixeira Alves, L.G., Wylezich, C., Borodina, T., Seitz, S., Altmüller, J. and Landthaler, M.
Environment International 190 : 108875. August 2024

Epilepsia

Association of ultra-rare coding variants with genetic generalized epilepsy: a case-control whole exome sequencing study.
Koko, M., Motelow, J.E., Stanley, K.E., Bobbili, D.R., Dhindsa, R.S. and May, P.
Epilepsia 63 (3): 723-735. March 2022

Alterations in the α(2)δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., Moyanova, S., Ngomba, R.T., van Luijtelaar, G., Battaglia, G., Bruno, V., Striano, P. and Nicoletti, F.
Epilepsia 58 (11): 1993-2001. November 2017

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Reinthaler, E.M., Lal, D., Jurkowski, W., Feucht, M., Steinböck, H., Gruber-Sedlmayr, U., Ronen, G.M., Geldner, J., Haberlandt, E., Neophytou, B., Hahn, A., Altmüller, J., Thiele, H., Toliat, M.R., Lerche, H., Nürnberg, P., Sander, T., Neubauer, B.A. and Zimprich, F.
Epilepsia 55 (8): 89-93. August 2014

Epilepsia Open

The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch, S., Haslinger, D., Lindlar, S., Thiele, H., Bernsen, N., Zahnert, F., Reif, P.S., Balcik, Y., Au, P.Y.B., Josephson, C., Altmüller, J., Strzelczyk, A., Knake, S., Rosenow, F., Chiocchetti, A. and Klein, K.M.
Epilepsia Open 8 (2): 497-508. June 2023

European Journal of Cancer Prevention

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Neidhardt, G., Becker, A., Hauke, J., Horváth, J., Bogdanova Markov, N., Heilmann-Heimbach, S., Hellebrand, H., Thiele, H., Altmüller, J., Nürnberg, P., Meindl, A., Rhiem, K., Blümcke, B., Wappenschmidt, B., Schmutzler, R.K. and Hahnen, E.
European Journal of Cancer Prevention 26 (2): 165-169. March 2017

European Journal of Human Genetics

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko, M., Elseed, M.A., Mohammed, I.N., Hamed, A.A., Abd Allah, A.S.I., Yahia, A., Siddig, R.A., Altmüller, J., Toliat, M.R., Elmahdi, E.O., Amin, M., Ahmed, E. A., Eltazi, I.Z.M., Elmugadam, F.A., Abdelgadir, W.A., Eltaraifee, E., Ibrahim, M.O.M., Ali, N.M.H., Malik, H.M., Babai, A.M., Bakhit, Y.H., Nürnberg, P., Ibrahim, M.E., Salih, M.A., Schubert, J., Elsayed, L.E.O. and Lerche, H.
European Journal of Human Genetics 5 February 2024 (In Press)

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter, M.S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S.W., Rudnik-Schöneborn, S., Bassett, A.S. and Lessel, D.
European Journal of Human Genetics 30 (5): 611-618. May 2022

Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Schmidt, J., Schreiber, G., Altmüller, J., Thiele, H., Nürnberg, P., Li, Y., Kaulfuß, S., Funke, R., Wilken, B., Yigit, G. and Wollnik, B.
European Journal of Human Genetics 30 (2): 211-218. February 2022

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas, T.G., Li, D., Nair, D., Alaimo, J.T., Alders, M., Altmüller, J., Barakat, T.S., Bebin, E.M., Bertsch, N.L., Blackburn, P.R., Blesson, A., Bouman, A.M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G.M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L.E., Gunderson, L.B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E.W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J.L., Milunsky, J.M., Napier, M.P., Ortiz-Gonzalez, X.R., Pichurin, P.N., Pinner, J., Powis, Z., Prasad, C., Radio, F.C., Rasmussen, K.J., Renaud, D.L., Rush, E.T., Saunders, C., Selcen, D., Seman, A.R., Shinde, D.N., Smith, E.D., Smol, T., Snijders Blok, L., Stoler, J.M., Tang, S., Tartaglia, M., Thompson, M.L., van de Kamp, J.M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E.H., Zampino, G., Campeau, P. and Bhoj, E.
European Journal of Human Genetics 28 (10): 1422-1431. October 2020

Assessment of genetic variant burden in epilepsy-associated brain lesions.
Niestroj, L.M., May, P., Artomov, M., Kobow, K., Coras, R., Pérez-Palma, E., Altmüller, J., Thiele, H., Nürnberg, P., Leu, C., Palotie, A., Daly, M.J., Klein, K.M., Beschorner, R., Weber, Y.G., Blümcke, I. and Lal, D.
European Journal of Human Genetics 27 (11): 1738-1744. November 2019

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Bobbili, D.R., Lal, D., May, P., Reinthaler, E.M., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., Feucht, M., Nürnberg, P., Lerche, H., Zimprich, F., Krause, R., Neubauer, B.A., Reinthaler, E.M., Zimprich, F., Feucht, M., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, G.M., Altmüller, J., Lal, D., Nürnberg, P., Sander, T., Thiele, H., Krause, R., May, P., Balling, R., Lerche, H. and Neubauer, B.A.
European Journal of Human Genetics 26 (2): 258-264. February 2018

European Journal of Medical Genetics

MFSD2A-associated primary microcephaly - expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller, K., Yigit, G., Martínez Grijalva, C., Altmüller, J., Thiele, H., Nürnberg, P., Elcioglu, N.H., Yeter, B., Hehr, U., Stein, A., Della Marina, A., Köninger, A., Depienne, C., Kaiser, F.J., Wollnik, B. and Kuechler, A.
European Journal of Medical Genetics 64 (10): 104310. October 2021

European Journal of Paediatric Neurology

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).
Usluer, S., Kayserili, M.A., Eken, A.G., Yiş, U., Leu, C., Altmüller, J., Thiele, H., Nürnberg, P., Sander, T. and Çağlayan, S.H.
European Journal of Paediatric Neurology 21 (5): 773-782. September 2017

Eurosurveillance

Integrated genomic surveillance enables tracing of person-to-person SARS-CoV-2 transmission chains during community transmission and reveals extensive onward transmission of travel-imported infections, Germany, June to July 2021.
Houwaart, Torsten, Belhaj, S., Tawalbeh, E., Nagels, D., Fröhlich, Y., Finzer, P., Ciruela, P., Sabrià, A., Herrero, M., Andrés, C., Antón, A., Benmoumene, A., Asskali, D., Haidar, H., von Dahlen, J., Nicolai, J., Stiller, M., Blum, J., Lange, C., Adelmann, C., Schroer, B., Osmers, U., Grice, C., Kirfel, P.P., Jomaa, H., Strelow, D., Hülse, L., Pigulla, M., Kreuzer, P., Tyshaieva, A., Weber, J., Wienemann, T., Kohns Vasconcelos, M., Hoffmann, K., Lübke, N., Hauka, S., Andree, M., Scholz, C.J., Jazmati, N., Göbels, K., Zotz, R., Pfeffer, K., Timm, J., Ehlkes, L., Walker, A. and Dilthey, A.T.
Eurosurveillance 27 (43): 2101089. 27 October 2022

Experimental Dermatology

Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect epidermal proliferation and differentiation.
Tsai, T., Veitinger, S., Peek, I., Busse, D., Eckardt, J., Vladimirova, D., Jovancevic, N., Wojcik, S., Gisselmann, G., Altmüller, J., Ständer, S., Luger, T., Paus, R., Cheret, J. and Hatt, H.
Experimental Dermatology 26 (1): 58-65. January 2017

FASEB Journal

Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling.
Hollenhorst, M.I., Jurastow, I., Nandigama, R., Appenzeller, S., Li, L., Vogel, J., Wiederhold, S., Althaus, M., Empting, M., Altmüller, J., Hirsch, A.K.H., Flockerzi, V., Canning, B.J., Saliba, A.E. and Krasteva-Christ, G.
FASEB Journal 34 (1): 316-332. January 2020

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Preising, M.N., Görg, B., Friedburg, C., Qvartskhava, N., Budde, B.S., Bonus, M., Toliat, M.R., Pfleger, C., Altmüller, J., Herebian, D., Beyer, M., Zöllner, H.J., Wittsack, H.J., Schaper, J., Klee, D., Zechner, U., Nürnberg, P., Schipper, J., Schnitzler, A., Gohlke, H., Lorenz, B., Häussinger, D. and Bolz, H.J.
FASEB Journal 33 (10): 11507-11527. October 2019

Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels.
Portelli, M.A., Siedlinski, M., Stewart, C.E., Postma, D.S., Nieuwenhuis, M.A., Vonk, J.M., Nurnberg, P., Altmuller, J., Moffatt, M.F., Wardlaw, A.J., Parker, S.G., Connolly, M.J., Koppelman, G.H. and Sayers, I.
FASEB Journal 28 (2): 923-934. February 2014

Familial Cancer

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Spier, I., Kerick, M., Drichel, D., Horpaopan, S., Altmüller, J., Laner, A., Holzapfel, S., Peters, S., Adam, R., Zhao, B., Becker, T., Lifton, R.P., Holinski-Feder, E., Perner, S., Thiele, H., Nöthen, M.M., Hoffmann, P., Timmermann, B., Schweiger, M.R. and Aretz, S.
Familial Cancer 15 (2): 281-288. April 2016

Frontiers in Cell and Developmental Biology

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C.M., Altmüller, J., Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G. and Wollnik, B.
Frontiers in Cell and Developmental Biology 10 : 1025332. 16 November 2022

Frontiers in Genetics

The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression.
Jamil, M. A., Al-Rifai, R., Nuesgen, N., Altmüller, J., Oldenburg, J. and El-Maarri, O.
Frontiers in Genetics 15 : 1302685. 19 February 2024

Full-length spatial transcriptomics reveals the unexplored isoform diversity of the myocardium post-MI.
Boileau, E., Li, X., Naarmann-de Vries, I.S., Becker, C., Casper, R., Altmüller, J., Leuschner, F. and Dieterich, C.
Frontiers in Genetics 13 : 912572. 22 July 2022

Cystatin M/E variant causes autosomal dominant keratosis follicularis spinulosa decalvans by dysregulating cathepsins L and V.
Eckl, K.M., Gruber, R., Brennan, L., Marriott, A., Plank, R., Moosbrugger-Martinz, V., Blunder, S., Schossig, A., Altmüller, J., Thiele, H., Nürnberg, P., Zschocke, J., Hennies, H.C. and Schmuth, M.
Frontiers in Genetics 12 : 689940. July 2021

Frontiers in Immunology

Single-cell clonal tracking of persistent T-cells in allogeneic hematopoietic stem cell transplantation.
Obermayer, B., Keilholz, L., Conrad, T., Frentsch, M., Blau, I.W., Vuong, L., Lesch, S., Movasshagi, K., Tietze-Stolley, C., Loyal, L., Henze, L., Penack, O., Stervbo, U., Babel, N., Haas, S., Beule, D., Bullinger, L., Wittenbecher, F. and Na, I.K.
Frontiers in Immunology 14 : 1114368. 10 February 2023

Frontiers in Molecular Biosciences

Characterization of the olfactory receptors expressed in human spermatozoa.
Flegel, C., Vogel, F., Hofreuter, A., Schreiner, B.S.P., Osthold, S., Veitinger, S., Becker, C., Brockmeyer, N.H., Muschol, M., Wennemuth, G., Altmüller, J., Hatt, H. and Gisselmann, G.
Frontiers in Molecular Biosciences 2 : 73. 2015

Frontiers in Oncology

Olfactory receptors as biomarkers in human breast carcinoma tissues.
Weber, L., Maßberg, D., Becker, C., Altmüller, J., Ubrig, B., Bonatz, G., Wölk, G., Philippou, S., Tannapfel, A., Hatt, H. and Gisselmann, G.
Frontiers in Oncology 8 : 33. 15 February 2018

Fungal Genetics and Biology

Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis.
Brych, A., Haas, F.B., Parzefall, K., Panzer, S., Schermuly, J., Altmüller, J., Engelsdorf, T., Terpitz, U., Rensing, S.A., Kiontke, S. and Batschauer, A.
Fungal Genetics and Biology 152 : 103570. July 2021

Genes

A homozygous AKNA frameshift variant is associated with microcephaly in a Pakistani family.
Waseem, S.S., Moawia, A., Budde, B., Tariq, M., Khan, A., Ali, Z., Khan, S., Iqbal, M., Malik, N.A., Haque, S.U., Altmüller, J., Thiele, H., Hussain, M.S., Cirak, S., Baig, S.M. and Nürnberg, P.
Genes 12 (10): 1494. October 2021

Modifier genes in microcephaly: a report on WDR62, CEP63, RAD50 and PCNT variants exacerbating disease caused by biallelic mutations of ASPM and CENPJ.
Makhdoom, E.U.H., Waseem, S.S., Iqbal, M., Abdullah, U., Hussain, G., Asif, M., Budde, B., Höhne, W., Tinschert, S., Saadi, S.M., Yousaf, H., Ali, Z., Fatima, A., Kaygusuz, E., Khan, A., Jameel, M., Khan, S., Tariq, M., Anjum, I., Altmüller, J., Thiele, H., Höning, S., Baig, S.M., Nürnberg, P. and Hussain, M.S.
Genes 12 (5): 731. May 2021

Genes Chromosomes & Cancer

Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia.
Patil, P., Cieslak, A., Bernhart, S.H., Toprak, U.H., Wagener, R., López, C., Wiehle, L., Bens, S., Altmüller, J., Franitza, M., Scholz, I., Jayne, S., Ahearne, M.J., Scheffold, A., Jebaraj, B.M.C., Schneider, C., Costa, D., Braun, T., Schrader, A., Campo, E., Dyer, M.J.S., Nürnberg, P., Dürig, J., Johansson, P., Böttcher, S., Schlesner, M., Herling, M., Stilgenbauer, S., Macintyre, E. and Siebert, R.
Genes Chromosomes & Cancer 59 (4): 261-267. April 2020

Genetics in Medicine

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Iqbal, M., Maroofian, R., Çavdarlı, B., Riccardi, F., Field, M., Banka, S., Bubshait, D.K., Li, Y., Hertecant, J., Baig, S.M., Dyment, D., Efthymiou, S., Abdullah, U., Makhdoom, E.U.H., Ali, Z., Scherf de Almeida, T, Molinari, F., Mignon-Ravix, C., Chabrol, B., Antony, J., Ades, L., Pagnamenta, A.T., Jackson, A., Douzgou, S., Beetz, C., Karageorgou, V., Vona, B., Rad, A., Baig, J.M., Sultan, T., Alvi, J.R., Maqbool, S., Rahman, F., Toosi, M.B., Ashrafzadeh, F., Imannezhad, S., Karimiani, E.G., Sarwar, Y., Khan, S., Jameel, M., Noegel, A.A., Budde, B., Altmüller, J., Motameny, S., Höhne, W., Houlden, H., Nürnberg, P., Wollnik, B., Villard, L., Alkuraya, F.S., Osmond, M., Hussain, M.S. and Yigit, G.
Genetics in Medicine 23 (11): 2138-2149. November 2021

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder, S., Li, Y., Yigit, G., Altmüller, J., Bader, I., Bevot, A., Biskup, S., Dreha-Kulaczewski, S., Korenke, C.G., Kottke, R., Mayr, J.A., Preisel, M., Toelle, S.P., Wente-Schulz, S., Wortmann, S.B., Hahn, H., Boltshauser, E., Uhmann, A., Wollnik, B. and Brockmann, K.
Genetics in Medicine 23 (2): 341-351. February 2021

The genomic and clinical landscape of fetal akinesia.
Pergande, M., Motameny, S., Özdemir, Ö., Kreutzer, M., Wang, H., Daimagüler, H.S., Becker, K., Karakaya, M., Ehrhardt, H., Elcioglu, N., Ostojic, S., Chao, C.M., Kawalia, A., Duman, Ö., Koy, A., Hahn, A., Reimann, J., Schoner, K., Schänzer, A., Westhoff, J.H., Schwaibold, E.M.C., Cossee, M., Imbert-Bouteille, M., von Pein, H., Haliloglu, G., Topaloglu, H., Altmüller, J., Nürnberg, P., Thiele, H., Heller, R. and Cirak, S.
Genetics in Medicine 22 (3): 511-523. March 2020

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V.C., Olfe, J., Roser, E., Seggewies, F.S., Mahlmann, A., Hempel, M., Hartmann, M.J., Hillebrand, M., Wieczorek, D., Volk, A.E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R.i, Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T.S., von Kodolitsch, Y., Kutsche, K. and Rosenberger, G.
Genetics in Medicine 21 (8): 1832-1841. August 2019

Genome Biology

RNA modification mapping with JACUSA2.
Piechotta, M., Naarmann-de Vries, I.S., Wang, Q., Altmüller, J. and Dieterich, C.
Genome Biology 23 (1): 115. 16 May 2022

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data.
Fernandez-Cuesta, L., Sun, R., Menon, R., George, J., Lorenz, S., Meza-Zepeda, L.A., Peifer, M., Plenker, D., Heuckmann, J.M., Leenders, F., Zander, T., Dahmen, I., Koker, M., Schöttle, J., Ullrich, R.T., Altmüller, J., Becker, C., Nürnberg, P., Seidel, H., Böhm, D., Göke, F., Ansén, S., Russell, P.A., Wright, G.M., Wainer, Z., Solomon, B., Petersen, I., Clement, J.H., Sänger, J., Brustugun, O.T., Helland, Å., Solberg, S., Lund-Iversen, M., Buettner, R., Wolf, J., Brambilla, E., Vingron, M., Perner, S., Haas, S.A. and Thomas, R.K.
Genome Biology 16 : 7. 5 January 2015

Genome Biology and Evolution

Potential contribution of ancient introgression to the evolution of a derived reproductive strategy in ricefishes.
Flury, J.M., Meusemann, K., Martin, S., Hilgers, L., Spanke, T., Böhne, A., Herder, F., Mokodongan, D., Altmüller, J., Wowor, D., Misof, B., Nolte, A.W. and Schwarzer, J.
Genome Biology and Evolution 15 (8): evad138. 29 August 2023

De novo whole genome assembly of the Roborovski dwarf hamster (Phodopus roborovskii) genome, an animal model for severe/critical COVID-19.
Andreotti, S., Altmüller, J., Quedenau, C., Borodina, T., Nouailles, G., Teixeira Alves, L.G., Landthaler, M., Bieniara, M., Trimpert, J. and Wyler, E.
Genome Biology and Evolution 14 (7): evac100. July 2022

Genome Medicine

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster, N., Erger, F., Kohl, S., Reusch, B., Wenzel, A., Walsh, S., Thiele, H., Becker, C., Franitza, M., Bartram, M.P., Kömhoff, M., Schumacher, L., Kukat, C., Borodina, T., Quedenau, C., Nürnberg, P., Rinschen, M.M., Driller, J.H., Pedersen, B.P., Schlingmann, K.P., Hüttel, B., Bockenhauer, D., Beck, B. and Altmüller, J.
Genome Medicine 15 (1): 62. 23 August 2023

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients.
Aschenbrenner, A.C., Mouktaroudi, M., Krämer, B., Oestreich, M., Antonakos, N., Nuesch-Germano, M., Gkizeli, K., Bonaguro, L., Reusch, N., Baßler, K., Saridaki, M., Knoll, R., Pecht, T., Kapellos, T.S., Doulou, S., Kröger, C., Herbert, M., Holsten, L., Horne, A., Gemünd, I.D., Rovina, N., Agrawal, S., Dahm, K., van Uelft, M., Drews, A., Lenkeit, L., Bruse, N., Gerretsen, J., Gierlich, J., Becker, M., Händler, K., Kraut, M., Theis, H., Mengiste, S., Domenico, E., Schulte-Schrepping, J., Seep, L., Raabe, J., Hoffmeister, C., ToVinh, M., Keitel, V., Rieke, G., Talevi, V., Skowasch, D., Aziz, N.A., Pickkers, P., van de Veerdonk, F.L., Netea, M.G., Schultze, J.L., Kox, M., Breteler, M.M.B., Nattermann, J., Koutsoukou, A., Giamarellos-Bourboulis, E.J. and Ulas, T.
Genome Medicine 13 (1): 7. 13 January 2021

cfNOMe - a single assay for comprehensive epigenetic analyses of cell-free DNA.
Erger, F., Nörling, D., Borchert, D., Leenen, E., Habbig, S., Wiesener, M.S., Bartram, M.P., Wenzel, A., Becker, C., Toliat, M.R., Nürnberg, P., Beck, B.B. and Altmüller, J.
Genome Medicine 12 (1): 54. 24 June 2020

Genome Research

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann, M., Kakar, N., Tayebi, N., Leettola, C., Nürnberg, G., Sowada, N., Lupiáñez, D.G., Harabula, I., Flöttmann, R., Horn, D., Chan, W.L., Wittler, L., Yilmaz, R., Altmüller, J., Thiele, H., van Bokhoven, H., Schwartz, C.E., Nürnberg, P., Bowie, J.U., Ahmad, J., Kubisch, C., Mundlos, S. and Borck, G.
Genome Research 26 (2): 183-191. February 2016

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies.
Borck, G., Hög, F., Dentici, M.L., Tan, P.L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T.L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D.J., Altmüller, J., Reymond, A., Nürnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P. and Kubisch, C.
Genome Research 25 (2): 155-166. February 2015

Graefes Archive for Clinical and Experimental Ophthalmology

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott, A., Volk, A.E., Herkenrath, P., Thiele, H., Fricke, J., Altmüller, J., Nürnberg, P., Kubisch, C. and Neugebauer, A.
Graefes Archive for Clinical and Experimental Ophthalmology 253 (12): 2239-2246. December 2015

Haematologica

Micro-RNA networks in T-cell prolymphocytic leukemia reflect T-cell activation and shape DNA damage response and survival pathways.
Braun, T., Glass, M., Wahnschaffe, L., Otte, M., Mayer, P., Franitza, M., Altmüller, J., Hallek, M., Hüttelmaier, S., Schrader, A. and Herling, M.
Haematologica 107 (1): 187-200. January 2022

Hereditary Cancer in Clinical Practice

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
Horpaopan, S., Kirfel, J., Peters, S., Kloth, M., Hüneburg, R., Altmüller, J., Drichel, D., Odenthal, M., Kristiansen, G., Strassburg, C., Nattermann, J., Hoffmann, P., Nürnberg, P., Büttner, R., Thiele, H., Kahl, P., Spier, I. and Aretz, S.
Hereditary Cancer in Clinical Practice 15 : 22. 29 November 2017

Heredity

Parallel habitat acclimatization is realized by the expression of different genes in two closely related salamander species (genus Salamandra).
Goedbloed, D.J., Czypionka, T., Altmüller, J., Rodriguez, A., Küpfer, E., Segev, O., Blaustein, L., Templeton, A.R., Nolte, A.W. and Steinfartz, S.
Heredity 119 (6): 429-437. December 2017

Human Genetics

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K.M., Li, Y., Wollnik, B. and Yigit, G.
Human Genetics 142 (4): 543-552. April 2023

Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt, J., Goergens, J., Pochechueva, T., Kotter, A., Schwenzer, N., Sitte, M., Werner, G., Altmueller, J., Thiele, H., Nürnberg, P., Isensee, J., Li, Y., Müller, C., Leube, B., Reinhardt, H.C., Hucho, T., Salinas, G., Helm, M., Jachimowicz, R.D., Wieczorek, D., Kohl, T., Lehnart, S.E., Yigit, G. and Wollnik, B.
Human Genetics 140 (12): 1679-1693. December 2021

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Volk, A.E., Hedergott, A., Preising, M., Rading, S., Fricke, J., Herkenrath, P., Nürnberg, P., Altmüller, J., von Ameln, S., Lorenz, B., Neugebauer, A., Karsak, M. and Kubisch, C.
Human Genetics 140 (8): 1157-1168. August 2021

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes, R., Berger, H., Till, K., Salinas, G., Sturm, M., Altmüller, J., Nürnberg, P., Thiele, H., Funke, R., Apeshiotis, N., Langen, H., Wollnik, B., Borchers, A. and Pauli, S.
Human Genetics 139 (11): 1363-1379. November 2020

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Bramswig, N.C., Lüdecke, H.J., Hamdan, F.F., Altmüller, J., Beleggia, F., Elcioglu, N.H., Freyer, C., Gerkes, E.H., Demirkol, Y.K., Knupp, K.G., Kuechler, A., Li, Y., Lowenstein, D.H., Michaud, J.L., Park, K., Stegmann, A.P.A., Veenstra-Knol, H.E., Wieland, T., Wollnik, B., Engels, H., Strom, T.M., Kleefstra, T. and Wieczorek, D.
Human Genetics 136 (7): 821-834. July 2017

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski, S., Hussain, M.S., Sur, I., Altmüller, J., Thiele, H., Abdullah, U., Waseem, S.S., Moawia, A., Nürnberg, G., Noegel, A.A., Baig, S.M. and Nürnberg, P.
Human Genetics 135 (2): 157-170. February 2016

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde, B.S., Mizumoto, S., Kogawa, R., Becker, C., Altmüller, J., Thiele, H., Rueschendorf, F., Toliat, M.R., Kaleschke, G., Haemmerle, J.M., Hoehne, W., Sugahara, K., Nuernberg, P. and Kennerknecht, I.
Human Genetics 134 (7): 691-704. July 2015

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Kakar, N., Ahmad, J., Morris-Rosendahl, D.J., Altmüller, J., Friedrich, K., Barbi, G., Nürnberg, P., Kubisch, C., Dobyns, W.B. and Borck, G.
Human Genetics 134 (1): 45-51. January 2015

Human Genetics and Genomics Advances

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T.C., Wagle, P., Budde, B., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A.A., Altmüller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L., Tinschert, S., Samra, N.G., Savatt, J.M., Rudy, N.L., De Luca, C., Fortugno, P., White, S.M., Krawitz, P., Hurst, A.C.E., Niefind, K., Jose, J., Brancati, F., Nürnberg, P. and Hussain, M.S.
Human Genetics and Genomics Advances 3 (3): 100111. 14 July 2022

Human Molecular Genetics

Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt, F., Ellinghaus, D., Juzenas, S., Lerga-Jaso, J., Wendorff, M., Maya-Miles, D., Uellendahl-Werth, F., ElAbd, H., Rühlemann, M.C., Arora, J., Özer, O., Lenning, O.B., Myhre, R., Vadla, M.S., Wacker, E.M., Wienbrandt, L., Ortiz, A.B., de Salazar, A., Chercoles, A.G., Palom, A., Ruiz, A., Garcia-Fernandez, A.E., Blanco-Grau, A., Mantovani, A., Zanella, A., Holten, A.R., Mayer, A., Bandera, A., Cherubini, A., Protti, A., Aghemo, A., Gerussi, A., Ramirez, A., Braun, A., Nebel, A., Barreira, A., Lleo, A., Teles, A., Kildal, A.B., Biondi, A., Caballero-Garralda, A., Ganna, A., Gori, A., Glück, A., Lind, A., Tanck, A., Hinney, A., Nolla, A.C., Fracanzani, A.L., Peschuck, A., Cavallero, A., Dyrhol-Riise, A.M., Ruello, A., Julià, A., Muscatello, A., Pesenti, A., Voza, A., Rando-Segura, A., Solier, A., Schmidt, A., Cortes, B., Mateos, B., Nafria-Jimenez, B., Schaefer, B., Jensen, B., Bellinghausen, C., Maj, C., Ferrando, C., Horra, C., Quereda, C., Skurk, C., Thibeault, C., Scollo, C., Herr, C., Spinner, C.D., Gassner, C., Lange, C., Hu, C., Paccapelo, C., Lehmann, C., Angelini, C., Cappadona, C., Azuure, C., Bianco, C., Cea, C., Sancho, C., Hoff, D.A.L., Galimberti, D., Prati, D., Haschka, D., Jiménez, D., Pestaña, D., Toapanta, D., Muñiz-Diaz, E., Azzolini, E., Sandoval, E., Binatti, E., Scarpini, E., Helbig, E.T., Casalone, E., Urrechaga, E., Paraboschi, E.M., Pontali, E., Reverter, E., Calderón, E.J., Navas, E., Solligård, E., Contro, E., Arana-Arri, E., Aziz, F., Garcia, F., Sánchez, F.G., Ceriotti, F., Martinelli-Boneschi, F., Peyvandi, F., Kurth, F., Blasi, F., Malvestiti, F., Medrano, F.J., Mesonero, F., Rodriguez-Frias, F., Hanses, F., Müller, F., Hemmrich-Stanisak, G., Bellani, G., Grasselli, G., Pezzoli, G., Costantino, G., Albano, G., Cardamone, G., Bellelli, G., Citerio, G., Foti, G., Lamorte, G., Matullo, G., Baselli, G., Kurihara, H., Neb, H., My, I., Kurth, I., Hernández, I., Pink, I., Rojas, I., Galván-Femenia, I., Holter, J.C., Afset, J.E., Heyckendorf, J., Kässens, J., Damås, J.K., Rybniker, J., Altmüller, J., Ampuero, J., Martín, J., Erdmann, J., Banales, J.M., Badia, J.R., Dopazo, J., Schneider, J., Bergan, J., Barretina, J., Walter, J., Quero, J.H., Goikoetxea, J., Delgado, J., Guerrero, J.M., Fazaal, J., Kraft, J., Schröder, J., Risnes, K., Banasik, K., Müller, K.E., Gaede, K.I., Garcia-Etxebarria, K., Tonby, K., Heggelund, L., Izquierdo-Sanchez, L., Bettini, L.Rachele, Sumoy, L., Sander, L.E., Lippert, L.J., Terranova, L., Nkambule, L., Knopp, L., Gustad, L.T., Garbarino, L., Santoro, L., Téllez, L., Roade, L., Ostadreza, M., Intxausti, M., Kogevinas, M., Riveiro-Barciela, M., Berger, M.M., Schaefer, M., Niemi, M.E.K., Gutiérrez-Stampa, M.A., Carrabba, M., Figuera Basso, M.E., Valsecchi, M.G., Hernandez-Tejero, M., Vehreschild, M.J.G.T, Manunta, M., Acosta-Herrera, M., D'Angiò, M., Baldini, M., Cazzaniga, M., Grimsrud, M.M., Cornberg, M., Nöthen, M.M., Marquié, M., Castoldi, M., Cordioli, M., Cecconi, M., D'Amato, M., Augustin, M., Tomasi, M., Boada, M., Dreher, M., Seilmaier, M.J., Joannidis, M., Wittig, M., Mazzocco, M., Ciccarelli, M., Rodríguez-Gandía, M., Bocciolone, M., Miozzo, M., Ayo, N.I., Blay, N., Chueca, N., Montano, N., Braun, N., Ludwig, N., Marx, N., Martínez, N., Cornely, O.A., Witzke, O., Palmieri, O., Faverio, P., Preatoni, P., Bonfanti, P., Omodei, P., Tentorio, P., Castro, P., Rodrigues, P.M., España, P.P., Hoffmann, P., Rosenstiel, P., Schommers, P., Suwalski, P., Pablo, R., Ferrer, R., Bals, R., Gualtierotti, R., Gallego-Durán, R., Nieto, R., Carpani, R., Morilla, R., Badalamenti, S., Haider, S., Ciesek, S., May, S., Bombace, S., Marsal, S., Pigazzini, S., Klein, S., Pelusi, S., Wilfling, S., Bosari, S., Volland, S., Brunak, S., Raychaudhuri, S., Schreiber, S., Heilmann-Heimbach, S., Aliberti, S., Ripke, S., Dudman, S., Wesse, T., Zheng, T., Bahmer, T., Eggermann, T., Illig, T., Brenner, T., Pumarola, T., Feldt, T., Folseraas, T., Cejudo, T.G., Landmesser, U., Protzer, U., Hehr, U., Rimoldi, V., Monzani, V., Skogen, V., Keitel, V., Kopfnagel, V., Friaza, V., Andrade, V., Moreno, V., Albrecht, W., Peter, W., Poller, W., Farre, X., Yi, X., Wang, X., Khodamoradi, Y., Karadeniz, Z., Latiano, A., Goerg, S., Bacher, P., Koehler, P., Tran, F., Zoller, H., Schulte, E.C., Heidecker, B., Ludwig, K.U., Fernández, J., Romero-Gómez, M., Albillos, A., Invernizzi, P., Buti, M., Duga, S., Bujanda, L., Hov, J.R., Lenz, T.L., Asselta, R., Cid, R., Valenti, L., Karlsen, T.H., Cáceres, M. and Franke, A.
Human Molecular Genetics 31 (23): 3945-3966. 1 December 2022

Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations.
Irmak, D., Fatima, A., Gutiérrez-Garcia, R., Rinschen, M.M., Wagle, P., Altmüller, J., Arrigoni, L., Hummel, B., Klein, C., Frese, C.K., Sawarkar, R., Rada-Iglesias, A. and Vilchez, D.
Human Molecular Genetics 27 (23): 4117-4134. 1 December 2018

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nürnberg, G., Thoenes, M., Becker, J., Altmüller, J., Volk, A.E., Kubisch, C. and Heller, R.
Human Molecular Genetics 26 (20): 4055-4066. 15 October 2017

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Bartram, M.P., Habbig, S., Pahmeyer, C., Höhne, M., Weber, L.T., Thiele, H., Altmüller, J., Kottoor, N., Wenzel, A., Krueger, M., Schermer, B., Benzing, T., Rinschen, M.M. and Beck, B.B.
Human Molecular Genetics 25 (6): 1152-1164. 15 March 2016

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin, N., Elcioglu, N.H., Beleggia, F., Isgüven, P., Altmüller, J., Thiele, H., Steindl, K., Joset, P., Rauch, A., Nürnberg, P., Wollnik, B. and Yigit, G.
Human Molecular Genetics 24 (13): 3708-3717. 1 July 2015

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan, M.A., Rupp, V.M., Orpinell, M., Hussain, M.S., Altmüller, J., Steinmetz, M.O., Enzinger, C., Thiele, H., Höhne, W., Nürnberg, G., Baig, S.M., Ansar, M., Nürnberg, P., Vincent, J.B., Speicher, M.R., Gönczy, P. and Windpassinger, C.
Human Molecular Genetics 23 (22): 5940-5949. 15 November 2014

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., Alanay, Y., Kayserili, H., Klein-Hitpass, L., Böhringer, S., Wollstein, A., Albrecht, B., Boduroglu, K., Caliebe, A., Chrzanowska, K., Cogulu, O., Cristofoli, F., Czeschik, J.C., Devriendt, K., Dotti, M.T., Elcioglu, N., Gener, B., Goecke, T.O., Krajewska-Walasek, M., Guillén-Navarro, E., Hayek, J., Houge, G., Kilic, E., Simsek-Kiper, P.Ö., López-González, V., Kuechler, A., Lyonnet, S., Mari, F., Marozza, A., Mathieu Dramard, M., Mikat, B., Morin, G., Morice-Picard, F., Ozkinay, F., Rauch, A., Renieri, A., Tinschert, S., Utine, G.E., Vilain, C., Vivarelli, R., Zweier, C., Nürnberg, P., Rahmann, S., Vermeesch, J., Lüdecke, H.J., Zeschnigk, M. and Wollnik, B.
Human Molecular Genetics 22 (25): 5121-5135. 20 December 2013

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Szczepanski, S., Nürnberg, G., Tariq, M., Jameel, M., Khan, T.N., Fatima, A., Malik, N.A., Ahmad, I., Altmüller, J., Frommolt, P., Thiele, H., Höhne, W., Yigit, G., Wollnik, B., Neubauer, B.A., Nürnberg, P. and Noegel, A.A.
Human Molecular Genetics 22 (25): 5199-5214. 20 December 2013

STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study.
Duetsch, G., Illig, T., Loesgen, S., Rohde, K., Klopp, N., Herbon, N., Gohlke, H., Altmueller, J. and Wjst, M.
Human Molecular Genetics 11 (6): 613-621. 1 January 2002

Human Mutation

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen, N., Krawczyk, H.E., Jamra, R.A., Lin, S.J., Yigit, G., Hüning, I., Polo, A.M., Vona, B., Huang, K., Schmidt, J., Altmüller, J., Luppe, J., Platzer, K., Dörgeloh, B.B., Busche, A., Biskup, S., Mendes, M.I., Smith, D.E.C., Salomons, G.S., Zibat, A., Bültmann, E., Nürnberg, P., Spielmann, M., Lemke, J.R., Li, Y., Zenker, M., Varshney, G.K., Hillen, H.S., Kratz, C.P. and Wollnik, B.
Human Mutation 43 (10): 1454-1471. October 2022

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
Marko, H.L., Hornig, N.C., Betz, R.C., Holterhus, P.M., Altmüller, J., Thiele, H., Fabiano, M., Schweikert, H.U., Braun, D. and Schweizer, U.
Human Mutation 43 (3): 420-433. March 2022

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller, N., Paketci, C., Altmueller, J., Fuhrmann, N., Wunderlich, G., Schrank, B., Unver, O., Yilmaz, S., Boostani, R., Karimiani, E.G., Motameny, S., Thiele, H., Nürnberg, P., Maroofian, R., Yis, U., Wirth, Br. and Karakaya, M.
Human Mutation 42 (4): 460-472. April 2021

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Yigit, G., Saida, K., DeMarzo, D., Miyake, N., Fujita, A., Yang Tan, T., White, S.M., Wadley, A., Toliat, M.R., Motameny, S., Franitza, M., Stutterd, C.A., Chong, P.F., Kira, R., Sengoku, T., Ogata, K., Guillen Sacoto, M.J., Fresen, C., Beck, B.B., Nürnberg, P., Dieterich, C., Wollnik, B., Matsumoto, N. and Altmüller, J.
Human Mutation 41 (3): 591-599. March 2020

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya, M., Storbeck, M., Strathmann, E.A., Delle Vedove, A., Hölker, I., Altmueller, J., Naghiyeva, L., Schmitz-Steinkrüger, L., Vezyroglou, K., Motameny, S., Alawbathani, S., Thiele, H., Polat, A.I., Okur, D., Boostani, R., Karimiani, E.G., Wunderlich, G., Ardicli, D., Topaloglu, H., Kirschner, J., Schrank, B., Maroofian, R., Magnusson, O., Yis, U., Nürnberg, P., Heller, R. and Wirth, B.
Human Mutation 39 (9): 1284-1298. September 2018

The role of de novo mutations in the development of amyotrophic lateral sclerosis.
van Doormaal, P.T.C., Ticozzi, N., Weishaupt, J.H., Kenna, K., Diekstra, F.P., Verde, F., Andersen, P.M., Dekker, A.M, Tiloca, C., Marroquin, N., Overste, D.J., Pensato, V., Nürnberg, P., Pulit, S.L., Schellevis, R.D., Calini, D., Altmüller, J., Francioli, L.C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A.C., van den Berg, L.H., Kubisch, C., Landers, J.E., Veldink, J.H., Silani, V. and Volk, A.E.
Human Mutation 38 (11): 1534-1541. November 2017

Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck, B.B., Phillips, J.B., Bartram, M.P., Wegner, J., Thoenes, M., Pannes, A., Sampson, J., Heller, R., Göbel, H., Koerber, F., Neugebauer, A., Hedergott, A., Nürnberg, G., Nürnberg, P., Thiele, H., Altmüller, J., Toliat, M.R., Staubach, S., Boycott, K.M., Valente, E.M., Janecke, A.R., Eisenberger, T., Bergmann, C., Tebbe, L., Wang, Y., Wu, Y., Fry, A.M., Westerfield, M., Wolfrum, U. and Bolz, H.J.
Human Mutation 35 (10): 1153-1162. October 2014

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga, R.E., Schüle, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nürnberg, G., Thiele, H., Altmüller, J., Alvarez, V., Gamez, J., Garbern, J.Y., Nürnberg, P., Zuchner, S. and Beetz, C.
Human Mutation 34 (6): 860-863. 20 May 2013

Hypertension

T- and L-type calcium channels maintain calcium oscillations in the murine zona glomerulosa.
Dinh, H.A., Volkert, M., Secener, A.K., Scholl, U.I. and Stölting, G.
Hypertension 81 (4): 811-822. April 2024

Maternal angiotensin increases placental leptin in early gestation via an alternative renin-angiotensin system pathway: suggesting a link to preeclampsia.
Nonn, O., Fischer, C., Geisberger, S., El-Heliebi, A., Kroneis, T., Forstner, D., Desoye, G., Staff, A.C., Sugulle, M., Dechend, R., Pecks, U., Kollmann, M., Stern, C., Cartwright, J.E., Whitley, G.S., Thilaganathan, B., Wadsack, C., Huppertz, B., Herse, F. and Gauster, M.
Hypertension 77 (5): 1723-1736. May 2021

Immunity

A local subset of mesenchymal cells expressing the transcription factor Osr1 orchestrates lymph node initiation.
Vallecillo-García, P., Orgeur, M., Comai, G., Poehle-Kronnawitter, S., Fischer, C., Gloger, M., Dumas, C.E., Giesecke-Thiel, C., Sauer, S., Tajbakhsh, S., Höpken, U.E. and Stricker, S.
Immunity 56 (6): 1204-1219. 13 June 2023

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19.
Krämer, B., Knoll, R., Bonaguro, L., ToVinh, M., Raabe, J., Astaburuaga-García, R., Schulte-Schrepping, J., Kaiser, K.M., Rieke, G.J., Bischoff, J., Monin, M.B., Hoffmeister, C., Schlabe, S., De Domenico, E., Reusch, N., Händler, K., Reynolds, G., Blüthgen, N., Hack, G., Finnemann, C., Nischalke, H.D., Strassburg, C.P., Stephenson, E., Su, Y., Gardner, L., Yuan, D., Chen, D., Goldman, J., Rosenstiel, P., Schmidt, S.V., Latz, E., Hrusovsky, K., Ball, A.J., Johnson, J.M., Koenig, P.A., Schmidt, F.I., Haniffa, M., Heath, J.R., Kümmerer, B.M., Keitel, V., Jensen, B., Stubbemann, P., Kurth, F., Sander, L.E., Sawitzki, B., Aschenbrenner, A.C., Schultze, J.L. and Nattermann, J.
Immunity 54 (11): 2650-2669. 9 November 2021

Immunogenetics

Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.
Altmüller, J., Haenisch, B., Kawalia, A., Menzen, M., Nöthen, M.M., Fier, H. and Molderings, G.J.
Immunogenetics 69 (6): 359-369. June 2017

International Journal of Cancer

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Spier, I., Holzapfel, S., Altmüller, J., Zhao, B., Horpaopan, S., Vogt, S., Chen, S., Morak, M., Raeder, S., Kayser, K., Stienen, D., Adam, R., Nürnberg, P., Plotz, G., Holinski-Feder, E., Lifton, R.P., Thiele, H., Hoffmann, P., Steinke, V. and Aretz, S.
International Journal of Cancer 137 (2): 320-331. 15 July 2015

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Horpaopan, S., Spier, I., Zink, A.M., Altmüller, J., Holzapfel, S., Laner, A., Vogt, S., Uhlhaas, S., Heilmann, S., Stienen, D., Pasternack, S.M., Keppler, K., Adam, R., Kayser, K., Moebus, S., Draaken, M., Degenhardt, F., Engels, H., Hofmann, A., Nöthen, M.M., Steinke, V., Perez-Bouza, A., Herms, S., Holinski-Feder, E., Fröhlich, H., Thiele, H., Hoffmann, P. and Aretz, S.
International Journal of Cancer 136 (6): E578–E589. 15 March 2015

International Journal of Molecular Sciences

Candesartan does not activate PPAR(γ) and its target genes in early gestation trophoblasts.
Neuper, L., Kummer, D., Forstner, D., Guettler, J., Ghaffari-Tabrizi-Wizsy, N., Fischer, C., Juch, H., Nonn, O. and Gauster, M.
International Journal of Molecular Sciences 23 (20): 12326. October 2022

Altered DNA methylation profiles in SF3B1 mutated CLL patients.
Pacholewska, A., Grimm, C., Herling, C.D., Lienhard, M., Königs, A., Timmermann, B., Altmüller, J., Mücke, O., Reinhardt, H.C., Plass, C., Herwig, R., Hallek, M. and Schweiger, M.R.
International Journal of Molecular Sciences 22 (17): 9337. 1 September 2021

hiPSC-derived epidermal keratinocytes from ichthyosis patients show altered expression of cornification markers.
Lima Cunha, D., Oram, A., Gruber, R., Plank, R., Lingenhel, A., Gupta, M.K., Altmüller, J., Nürnberg, P., Schmuth, M., Zschocke, J., Šarić, T., Eckl, K.M. and Hennies, H.C.
International Journal of Molecular Sciences 22 (4): 1785. 2 February 2021

JAMA Oncology

Association of germline variant status with therapy response in high-risk early-stage breast cancer: a secondary analysis of the GeparOcto randomized clinical trial.
Pohl-Rescigno, E., Hauke, J., Loibl, S., Möbus, V., Denkert, C., Fasching, P.A., Kayali, M., Ernst, C., Weber-Lassalle, N., Hanusch, C., Tesch, H., Müller, V., Altmüller, J., Thiele, H., Untch, M., Lübbe, K., Nürnberg, P., Rhiem, K., Furlanetto, J., Lederer, B., Jackisch, C., Nekljudova, V., Schmutzler, R.K., Schneeweiss, A. and Hahnen, E.
JAMA Oncology 6 (5): 744-748. May 2020

Germline mutation status, pathological complete response, and disease-free survival in triple-negative breast cancer: secondary analysis of the GeparSixto randomized clinical trial.
Hahnen, E., Lederer, B., Hauke, J., Loibl, S., Kröber, S., Schneeweiss, A., Denkert, C., Fasching, P.A., Blohmer, J.U., Jackisch, C., Paepke, S., Gerber, B., Kümmel, S., Schem, C., Neidhardt, G., Huober, J., Rhiem, K., Costa, S., Altmüller, J., Hanusch, C., Thiele, H., Müller, V., Nürnberg, P., Karn, T., Nekljudova, V., Untch, M., von Minckwitz, G. and Schmutzler, R.K.
JAMA Oncology 3 (10): 1378-1385. 1 October 2017

Association between loss-of-function mutations within the FANCM gene and early-onset familial breast cancer.
Neidhardt, G., Hauke, J., Ramser, J., Groß, E., Gehrig, A., Müller, C.R., Kahlert, A.K., Hackmann, K., Honisch, E., Niederacher, D., Heilmann-Heimbach, S., Franke, A., Lieb, W., Thiele, H., Altmüller, J., Nürnberg, P., Klaschik, K., Ernst, C., Ditsch, N., Jessen, F., Ramirez, A., Wappenschmidt, B., Engel, C., Rhiem, K., Meindl, A., Schmutzler, R.K. and Hahnen, Eric
JAMA Oncology 3 (9): 1245-1248. 1 September 2017

JCI Insight

Transcriptional heterogeneity of fibroblasts is a hallmark of the aging heart.
Vidal, R., Wagner, J.U.G., Braeuning, C., Fischer, C., Patrick, R., Tombor, L., Muhly-Reinholz, M., John, D., Kliem, M., Conrad, T., Guimarães-Camboa, N., Harvey, R., Dimmeler, S. and Sauer, S.
JCI Insight 4 (22): e131092. 14 November 2019

Journal of Biological Chemistry

Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage.
Bubb, K., Holzer, T., Nolte, J.L., Krüger, M., Wilson, R., Schlötzer-Schrehardt, U., Brinckmann, J., Altmüller, J., Aszodi, A., Fleischhauer, L., Clausen-Schaumann, H., Probst, K. and Brachvogel, B.
Journal of Biological Chemistry 297 (4): 101224. October 2021

Ion transporter NKCC1, modulator of neurogenesis in murine olfactory neurons.
Haering, C., Kanageswaran, N., Bouvain, P., Scholz, P., Altmüller, J., Becker, C., Gisselmann, G., Wäring-Bischof, J. and Hatt, H.
Journal of Biological Chemistry 290 (15): 9767-9779. 4 January 2021

Journal of Cardiovascular Aging

Male carriers of HLA-C*04:01 have increased risk of cardiac injury in COVID-19.
Suwalski, P., Violano, M., Müller, M., Patriki, D., Thibeault, C., Quedenau, C., Wang, X., Karadeniz, Z., Saccomanno, J., Doehn, J.M., Hübner, R.H., Hinzmann, B., Beer, H.J., Wiggli, B., Siemann, S., Suttorp, N., Witzenrath, M., Hippenstiel, S., Skurk, C., Poller, W., Sander, L.E., Kurth, F., Borodina, T., Guettouche, T., Landmesser, U. and Heidecker, B.
Journal of Cardiovascular Aging 2 (3): 33. 27 June 2022

Journal of Cell Biology

CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins.
Gao, J., Schatton, D., Martinelli, P., Hansen, H., Pla-Martin, D., Barth, E., Becker, C., Altmueller, J., Frommolt, P., Sardiello, M. and Rugarli, E.I.
Journal of Cell Biology 207 (2): 213-223. 27 October 2014

Journal of Clinical Investigation

Spatiotemporal transcriptomic mapping of regenerative inflammation in skeletal muscle reveals a dynamic multilayered tissue architecture.
Patsalos, A., Halasz, L., Oleksak, D., Wei, X., Nagy, G., Tzerpos, P., Conrad, T., Hammers, D.W., Sweeney, H.L. and Nagy, L.
Journal of Clinical Investigation 27 August 2024 (In Press)

iPSC-derived reactive astrocytes from patients with multiple-sclerosis protect cocultured neurons in inflammatory conditions.
Kerkering, J., Muinjonov, B., Rosiewicz, K.S., Diecke, S., Biese, C., Schiweck, J., Chien, C., Zocholl, D., Conrad, T., Paul, F., Alisch, M. and Siffrin, V.
Journal of Clinical Investigation 133 (13): e164637. 3 July 2023

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmüller, J., Noegel, A. A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaroğlu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nürnberg, P., Khokha, M.K. and Hildebrandt, F.
Journal of Clinical Investigation 128 (10): 4313-4328. 1 October 2018

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
Ralser, D.J., Basmanav, F.B.Ü., Tafazzoli, A., Wititsuwannakul, J., Delker, S., Danda, S., Thiele, H., Wolf, S., Busch, M., Pulimood, S.A., Altmüller, J., Nürnberg, P., Lacombe, D., Hillen, U., Wenzel, J., Frank, J., Odermatt, B. and Betz, R.C.
Journal of Clinical Investigation 127 (4): 1485-1490. 3 April 2017

Journal of Clinical Pathology

Deep ion sequencing of amplicon adapter ligated libraries: a novel tool in molecular diagnostics of formalin fixed and paraffin embedded tissues.
Becker, K., Vollbrecht, C., Koitzsch, U., Koenig, K., Fassunke, J., Huss, S., Nuernberg, P., Heukamp, L.C., Buettner, R., Odenthal, M., Altmueller, J. and Merkelbach-Bruse, S.
Journal of Clinical Pathology 66 (9): 803-806. 1 September 2013

Journal of Experimental Botany

Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem.
Frerichs, A., Engelhorn, J., Altmüller, J., Gutierrez-Marcos, J. and Werr, W.
Journal of Experimental Botany 70 (15): 3867-3879. 1 August 2019

Journal of Experimental Medicine

A growth factor-expressing macrophage subpopulation orchestrates regenerative inflammation via GDF-15.
Patsalos, A., Halasz, L., Medina-Serpas, M.A., Berger, W.K., Daniel, B., Tzerpos, P., Kiss, M., Nagy, G., Fischer, C., Simandi, Z., Varga, T. and Nagy, L.
Journal of Experimental Medicine 219 (1): e20210420. 3 January 2022

Journal of Hepatology

Next generation sequencing of the Ago2 interacting transcriptome identified chemokine family members as novel targets of neuronal microRNAs in hepatic stellate cells.
Noetel, A., Elfimova, N., Altmüller, J., Becker, C., Becker, D., Lahr, W., Nürnberg, P., Wasmuth, H., Teufel, A., Büttner, R., Dienes, H.P. and Odenthal, M.
Journal of Hepatology 58 (2): 335-341. February 2013

Journal of Human Genetics

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad, I., Khan, A., Noor Ul Ayan, H., Budde, B., Altmüller, J., Korejo, A.A., Nürnberg, G., Thiele, H., Tariq, M., Nürnberg, P. and Erdmann, J.
Journal of Human Genetics 11 October 2022

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari, H.S., Sprute, R., Wunderlich, G., Daimagüler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nürnberg, P., Altmüller, J., Thiele, H., Assmann, B., Koy, A. and Cirak, S.
Journal of Human Genetics 64 (8): 803-813. August 2019

Journal of Immunology Research

RNA-seq based transcriptome analysis of the type I interferon host response upon vaccinia virus infection of mouse cells.
Hernáez, B., Alonso, G., Alonso-Lobo, J.M., Rastrojo, A., Fischer, C., Sauer, S., Aguado, B. and Alcamí, A.
Journal of Immunology Research 2017 : 5157626. 9 February 2017

Journal of Investigative Dermatology

Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
Basmanav, F.B., Fritz, G., Lestringant, G.G., Pachat, D., Hoffjan, S., Fischer, J., Wehner, M., Wolf, S., Thiele, H., Altmüller, J., Pulimood, S.A., Rütten, A., Kruse, R., Hanneken, S., Frank, J., Danda, S., Bygum, A. and Betz, R.C.
Journal of Investigative Dermatology 135 (2): 615-618. February 2015

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Önal-Akan, A., Stock, F., Müller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J., Nürnberg, P., Traupe, H., Futerman, A.H. and Hennies, H.C.
Journal of Investigative Dermatology 133 (9): 2202-2211. September 2013

Journal of Medical Genetics

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit, G., Sheffer, R., Daana, M., Li, Y., Kaygusuz, E., Mor-Shakad, H., Altmüller, J., Nürnberg, P., Douiev, L., Kaulfuss, S., Burfeind, P., Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 59 (6): 549-553. 20 May 2022

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J., Harter, P., Ernst, C., Burges, A., Schmidt, S., Reuss, A., Borde, J., De Gregorio, N., Dietrich, D., El-Balat, A., Kayali, M., Gevensleben, H., Hilpert, F., Altmüller, J., Heimbach, A., Meier, W., Schoemig-Markiefka, B., Thiele, H., Kimmig, R., Nürnberg, P., Kast, K., Richters, L., Sehouli, J., Schmutzler, R.K. and Hahnen, E.
Journal of Medical Genetics 59 (3): 248-252. March 2022

Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J., Hahnen, E., Schneider, S., Reuss, A., Richters, L., Kommoss, S., Heimbach, A., Marmé, F., Schmidt, S., Prieske, K., Gevensleben, H., Burges, A., Borde, J., De Gregorio, N., Nürnberg, P., El-Balat, A., Thiele, H., Hilpert, F., Altmüller, J., Meier, W., Dietrich, D., Kimmig, R., Schoemig-Markiefka, B., Kast, K., Braicu, E., Baumann, K., Jackisch, C., Park-Simon, T.W., Ernst, C., Hanker, L., Pfisterer, J., Schnelzer, A., du Bois, A., Schmutzler, R.K. and Harter, P.
Journal of Medical Genetics 56 (9): 574-580. September 2019

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
Pauli, S., Altmüller, J., Schröder, S., Ohlenbusch, A., Dreha-Kulaczewski, S., Bergmann, C., Nürnberg, P., Thiele, H., Li, Y., Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 56 (4): 261-264. April 2019

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci, S., Li, Y., Agolini, E., Bellacchio, E., Arboleda-Bustos, C.E., Carrero, D., Bertola, D., Al-Gazali, L., Alders, M., Altmüller, J., Arboleda, G., Beleggia, F., Bruselles, A., Ciolfi, A., Gillessen-Kaesbach, G., Krieg, T., Mohammed, S., Müller, C., Novelli, A., Ortega, J., Sandoval, A., Velasco, G., Yigit, G., Arboleda, H., Lopez-Otin, C., Wollnik, B., Tartaglia, M. and Hennekam, R.C.
Journal of Medical Genetics 55 (12): 837-846. December 2018

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.
Broekaert, I.J., Becker, K., Gottschalk, I., Körber, F., Dötsch, J., Thiele, H., Altmüller, J., Nürnberg, P., Hünseler, C. and Cirak, S.
Journal of Medical Genetics 55 (9): 637-640. September 2018

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato, N., Neuhann, T., Kahlert, A.K., Klink, B., Hackmann, K., Neuhann, I., Novotna, B., Schallner, J., Krause, C., Glass, I.A., Parnell, S.E., Benet-Pages, A., Nissen, A.M., Berger, W., Altmüller, J., Thiele, H., Weber, B.H.F., Schrock, E., Dobyns, W.B., Bier, A. and Rump, A.
Journal of Medical Genetics 53 (6): 419-425. June 2016

Journal of Molecular Diagnostics

Unraveling structural rearrangements of the CFH gene cluster in atypical hemolytic uremic syndrome patients using molecular combing and long-fragment targeted sequencing.
Tschernoster, N., Erger, F., Walsh, P.R., McNicholas, B., Fistrek, M., Habbig, S., Schumacher, L., Folz-Donahue, K., Kukat, C., Toliat, M.R., Becker, C., Thiele, H., Kavanagh, D., Nürnberg, P., Beck, B. and Altmüller, J.
Journal of Molecular Diagnostics 24 (6): 619-631. June 2022

Analysis of driver mutational hot spots in blood-derived cell-free DNA of patients with primary central nervous system lymphoma obtained before intracerebral biopsy.
Montesinos-Rongen, M., Brunn, A., Tuchscherer, A., Borchmann, P., Schorb, E., Kasenda, B., Altmüller, J., Illerhaus, G., Ruge, M.I., Maarouf, M., Büttner, R., Hansmann, M.L., Hallek, M., Prinz, M., Siebert, R. and Deckert, M.
Journal of Molecular Diagnostics 22 (10): 1300-1307. October 2020

Combined targeted resequencing of cytosine DNA methylation and mutations of DNA repair genes with potential use for poly(ADP-ribose) polymerase 1 inhibitor sensitivity testing.
Grimm, C., Fischer, A., Farrelly, A.M., Kalachand, R., Castiglione, R., Wasserburger, E., Hussong, M., Schultheis, Anne M, Altmüller, J., Thiele, H., Reinhardt, H.C., Hauschulz, K., Hennessy, B.T., Herwig, R., Lienhard, M., Buettner, R. and Schweiger, M.R.
Journal of Molecular Diagnostics 21 (2): 198-213. March 2019

Journal of Molecular and Cellular Cardiology

Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease.
Siede, D., Rapti, K., Gorska, A.A., Katus, H.A., Altmüller, J., Boeckel, J.N., Meder, B., Maack, C., Völkers, M., Müller, O.J., Backs, J. and Dieterich, C.
Journal of Molecular and Cellular Cardiology 109 : 48-56. August 2017

Journal of Neuroinflammation

Spermidine reduces neuroinflammation and soluble amyloid beta in an Alzheimer’s disease mouse model.
Freitag, K., Sterczyk, N., Wendlinger, S., Obermayer, B., Schulz, J., Farztdinov, V., Mülleder, M., Ralser, M., Houtman, J., Fleck, L., Braeuning, C., Sansevrino, R., Hoffmann, C., Milovanovic, D., Sigrist, S.J., Conrad, T., Beule, D., Heppner, F.L. and Jendrach, M.
Journal of Neuroinflammation 19 (1): 172. 2 July 2022

Journal of Neurology

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
Sauvigny, T., Alawi, M., Krause, L., Renner, S., Spohn, M., Busch, A., Kolbe, V., Altmüller, J., Löscher, B.S., Franke, A., Brockmann, C., Lieb, W., Westphal, M., Schmidt, N.O., Regelsberger, J. and Rosenberger, G.
Journal of Neurology 267 (9): 2533-2545. September 2020

Journal of Pathology

Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy.
Heide, T., Maurer, A., Eipel, M., Knoll, K., Geelvink, M., Veeck, J., Knuechel, R., van Essen, J., Stoehr, R., Hartmann, A., Altmueller, J., Graham, T.A. and Gaisa, N.T.
Journal of Pathology 248 (2): 230-242. June 2019

Journal of Proteome Research

Efficient application of de novo RNA assemblers for proteomics informed by transcriptomics.
Luge, T., Fischer, C. and Sauer, S.
Journal of Proteome Research 15 (10): 3938-3943. 7 October 2016

Journal of Proteomics

MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
Reusch, B., Bartram, M.P., Dafinger, C., Palacio-Escat, N., Wenzel, A., Fenton, R.A., Saez-Rodriguez, J., Schermer, B., Benzing, T., Altmüller, J., Beck, B.B. and Rinschen, M.M.
Journal of Proteomics 252 : 104424. 10 February 2022

Journal of Thoracic Oncology

Implementation of amplicon parallel sequencing leads to improvement of diagnosis and therapy of lung cancer patients.
König, K., Peifer, M., Fassunke, J., Ihle, M.A., Künstlinger, H., Heydt, C., Stamm, K., Ueckeroth, F., Vollbrecht, C., Bos, M., Gardizi, M., Scheffler, M., Nogova, L., Leenders, F., Albus, K., Meder, L., Becker, K., Florin, A., Rommerscheidt-Fuss, U., Altmüller, J., Kloth, M., Nürnberg, P., Henkel, T., Bikár, S.E., Sos, M.L., Geese, W.J., Strauss, L., Ko, Y.D., Gerigk, U., Odenthal, M., Zander, T., Wolf, J., Merkelbach-Bruse, S., Buettner, R. and Heukamp, L.C.
Journal of Thoracic Oncology 10 (7): 1049-1057. July 2015

Journal of Virology

Dissecting herpes simplex virus 1-induced host shutoff at the RNA level.
Friedel, C.C., Whisnant, A.W., Djakovic, L., Rutkowski, A.J., Friedl, M.S., Kluge, M., Williamson, J.C., Sai, S., Vidal, R.O., Sauer, S., Hennig, T., Grothey, A., Milić, A., Prusty, B.K., Lehner, P.J., Matheson, N.J., Erhard, F. and Dölken, L.
Journal of Virology 95 (3): e01399-20. 13 January 2021

Journal of Visualized Experiments

Nuclei isolation from adult mouse kidney for single-nucleus RNA-sequencing.
Leiz, J., Hinze, C., Boltengagen, A., Braeuning, C., Kocks, C., Rajewsky, N. and Schmidt-Ott, K.M.
Journal of Visualized Experiments (175): e62901. September 2021

Chromatin immunoprecipitation (ChIP) protocol for low-abundance embryonic samples.
Rehimi, R., Bartusel, M., Solinas, F., Altmüller, J. and Rada-Iglesias, A.
Journal of Visualized Experiments (126): e56186. 29 August 2017

Journal of the American Society of Nephrology

Claudin-10a deficiency shifts proximal tubular Cl(-) permeability to cation selectivity via claudin-2 redistribution.
Breiderhoff, T., Himmerkus, N., Meoli, L., Fromm, A., Sewerin, S., Kriuchkova, N., Nagel, O., Ladilov, Y., Krug, S., Quintanova, C., Stumpp, M., Garbe-Schönberg, D., Westernströer, U., Merkel, C., Brinkhus, M., Altmüller, J., Schweiger, M., Mueller, D., Mutig, K., Morawski, M., Halbritter, J., Milatz, S., Bleich, M. and Günzel, D.
Journal of the American Society of Nephrology 33 (4): 699-717. April 2022

mTOR-activating mutations in RRAGD are causative for kidney tubulopathy and cardiomyopathy.
Schlingmann, K.P., Jouret, F., Shen, K., Nigam, A., Arjona, F., Dafinger, C., Houillier, P., Jones, D., Kleinerüschkamp, F., Oh, J., Godefroid, N., Eltan, M., Güran, T., Burtey, S., Parotte, M.C., König, J., Braun, A., Bos, C., Serra, M.I., Rehmann, H., Zwartkruis, F., Renkema, K., Klingel, K., Schulze-Bahr, E., Schermer, B., Bergmann, C., Altmüller, J., Thiele, H., Beck, B., Dahan, K., Sabatini, D., Liebau, M., Vargas-Poussou, R., Knoers, N., Konrad, M. and de Baaij, J.
Journal of the American Society of Nephrology 32 (11): 2885-2899. November 2021

The integrated RNA landscape of renal preconditioning against ischemia-reperfusion injury.
Johnsen, M., Kubacki, T., Yeroslaviz, A., Späth, M.R., Mörsdorf, J., Göbel, H., Bohl, K., Ignarski, M., Meharg, C., Habermann, B., Altmüller, J., Beyer, A., Benzing, T., Schermer, B., Burst, V. and Müller, R.U.
Journal of the American Society of Nephrology 31 (4): 716-730. April 2020

Kaohsiung Journal of Medical Sciences

Senior-Løken syndrome with IQCB1 mutation in Taiwan.
Yu, P.H., Kuo, Y.R., Altmüller, J. and Hwang, D.Y.
Kaohsiung Journal of Medical Sciences 34 (10): 588-589. October 2018

Kidney International

Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
Sholokh, A., Walter, S., Markó, L., McMurray, B.J., Sunaga-Franze, D.Y., Xu, M., Zühlke, K., Russwurm, M., Bartolomaeus, T.U.P., Langanki, R., Qadri, F., Heuser, A., Patzak, A., Forslund, S.K., Bähring, S., Borodina, T., Persson, P.B., Maass, P.G., Bader, M. and Klussmann, E.
Kidney International 104 (2): 388-393. August 2023

Kidney International Reports

Modeling of ACTN4-based podocytopathy using Drosophila nephrocytes.
Odenthal, J., Dittrich, S., Ludwig, V., Merz, T., Reitmeier, K., Reusch, B., Höhne, M., Cosgun, Z.C., Hohenadel, M., Putnik, J., Göbel, H., Rinschen, M.M., Altmüller, J., Koehler, S., Schermer, B., Benzing, T., Beck, B.B., Brinkkötter, P.T., Habbig, S. and Bartram, M.P.
Kidney International Reports 8 (2): 317-329. February 2023

Expanding the spectrum of FAT1 nephropathies by novel mutations that affect hippo signaling.
Fabretti, F., Tschernoster, N., Erger, F., Hedergott, A., Buescher, A.K., Dafinger, C., Reusch, B., Köntges, V.K., Kohl, S., Bartram, M.P., Weber, L.T., Thiele, H., Altmueller, J., Schermer, B., Beck, B.B. and Habbig, S.
Kidney International Reports 6 (5): 1368-1378. May 2021

Lancet Neurology

Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study.
May, P., Girard, S., Harrer, M., Bobbili, D.R., Schubert, J., Wolking, S., Becker, F., Lachance-Touchette, P., Meloche, C., Gravel, M., Niturad, C.E., Knaus, J., De Kovel, C., Toliat, M., Polvi, A., Iacomino, M., Guerrero-López, R., Baulac, S., Marini, C., Thiele, H., Altmüller, J., Jabbari, K., Ruppert, A.K., Jurkowski, W., Lal, D., Rusconi, R., Cestèle, S., Terragni, B., Coombs, I.D., Reid, C.A., Striano, P., Caglayan, H., Siren, A., Everett, K., Møller, R.S., Hjalgrim, H., Muhle, H., Helbig, I., Kunz, W.S., Weber, Y.G., Weckhuysen, S., Jonghe, P.D., Sisodiya, S.M., Nabbout, R., Franceschetti, S., Coppola, A., Vari, M.S., Kasteleijn-Nolst Trenité, D., Baykan, B., Ozbek, U., Bebek, N., Klein, K.M., Rosenow, F., Nguyen, D.K., Dubeau, F., Carmant, L., Lortie, A., Desbiens, R., Clément, J.F., Cieuta-Walti, C., Sills, G.J., Auce, P., Francis, B., Johnson, M.R., Marson, A.G., Berghuis, B., Sander, J.W., Avbersek, A., McCormack, M., Cavalleri, G.L., Delanty, N., Depondt, C., Krenn, M., Zimprich, F., Peter, S., Nikanorova, M., Kraaij, R., van Rooij, J., Balling, R., Ikram, M.A., Uitterlinden, A.G., Avanzini, G., Schorge, S., Petrou, S., Mantegazza, M., Sander, T., LeGuern, E., Serratosa, J.M., Koeleman, B.P.C., Palotie, A., Lehesjoki, A.E., Nothnagel, M., Nürnberg, P., Maljevic, S., Zara, F., Cossette, P., Krause, R. and Lerche, H.
Lancet Neurology 17 (8): 699-708. August 2018

Life Science Alliance

m(6)A-mRNA methylation regulates cardiac gene expression and cellular growth.
Kmietczyk, V., Riechert, E., Kalinski, L., Boileau, E., Malovrh, E., Malone, B., Gorska, A., Hofmann, C., Varma, E., Jürgensen, L., Kamuf-Schenk, V., Altmüller, J., Tappu, R., Busch, M., Most, P., Katus, H.A., Dieterich, C. and Völkers, M.
Life Science Alliance 2 (2): e201800233. April 2019

Med

In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin’s lymphoma and facilitates ultrasensitive residual disease detection.
Sobesky, S., Mammadova, L., Cirillo, M., Drees, E.E.E., Mattlener, J., Dörr, H., Altmüller, J., Shi, Z., Bröckelmann, P.J., Weiss, J., Kreissl, S., Sasse, S., Ullrich, R.T., Reinke, S., Klapper, W., Gerhard-Hartmann, E., Rosenwald, A., Roemer, M.G.M., Nürnberg, P., Hagenbeek, A., Zijlstra, J.M., Pegtel, D.M., Engert, A., Borchmann, P., von Tresckow, B. and Borchmann, S.
Med 2 (10): 1171-1193. 8 October 2021

Methods in Ecology and Evolution

Ecological transcriptomics – a non-lethal sampling approach for endangered fire salamanders.
Czypionka, T., Krugman, T., Altmüller, J., Blaustein, L., Steinfartz, S., Templeton, A.R., Nolte, A.W. and Leder, E.
Methods in Ecology and Evolution 6 (12): 1417-1425. December 2015

Mitochondrial DNA Part B Resources

The complete mitochondrial transcript of the red tail loach Yasuhikotakia modesta as assembled from RNAseq (Teleostei: Botiidae).
Grau, J.H., Hilgers, L., Altmüller, J., Šlechtová, V. and Bohlen, J.
Mitochondrial DNA Part B Resources 2 (1): 46-47. 2 February 2017

Molecular Cell

Exon junction complexes suppress spurious splice sites to safeguard transcriptome integrity.
Boehm, V., Britto-Borges, T., Steckelberg, A.L., Singh, K.K., Gerbracht, J.V., Gueney, E., Blazquez, L., Altmüller, J., Dieterich, C. and Gehring, N.H.
Molecular Cell 72 (3): 482-495. 1 November 2018

HMGB2 loss upon senescence entry disrupts genomic organization and induces CTCF clustering across cell types.
Zirkel, A., Nikolic, M., Sofiadis, K., Mallm, J.P., Brackley, C.A., Gothe, H., Drechsel, O., Becker, C., Altmüller, J., Josipovic, N., Georgomanolis, T., Brant, L., Franzen, J., Koker, M., Gusmao, E.G., Costa, I.G., Ullrich, R.T., Wagner, W., Roukos, V., Nürnberg, P., Marenduzzo, D., Rippe, K. and Papantonis, A.
Molecular Cell 70 (4): 730-744.e6. 17 May 2018

Molecular Ecology

Transposable elements and introgression introduce genetic variation in the invasive ant Cardiocondyla obscurior.
Errbii, M., Keilwagen, J., Hoff, K.J., Steffen, R., Altmüller, J., Oettler, J. and Schrader, L.
Molecular Ecology 30 (23): 6211-6228. December 2021

Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish.
Dennenmoser, S., Sedlazeck, F.J., Schatz, M.C, Altmüller, J., Zytnicki, M. and Nolte, A.W.
Molecular Ecology 28 (6): 1491-1505. March 2019

Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin.
Dennenmoser, S., Sedlazeck, F.J., Iwaszkiewicz, E., Li, X.Y., Altmüller, J. and Nolte, A.W.
Molecular Ecology 26 (18): 4712-4724. 26 September 2017

Molecular Genetics & Genomic Medicine

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K. and Hennies, H.C.
Molecular Genetics & Genomic Medicine 7 (3): e539. March 2019

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Moosa, S., Altmüller, J., Lyngbye, T., Christensen, R., Li, Y., Nürnberg, P., Yigit, G., Vogel, I. and Wollnik, B.
Molecular Genetics & Genomic Medicine 5 (5): 580-584. September 2017

Molecular Genetics and Genomics

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Sukumaran, S.K., Stumpf, M., Salamon, S., Ahmad, I., Bhattacharya, K., Fischer, S., Müller, R., Altmüller, J., Budde, B., Thiele, H., Tariq, M., Malik, N.A., Nürnberg, P., Baig, S.M., Hussain, M.S. and Noegel, A.A.
Molecular Genetics and Genomics 292 (2): 365-383. April 2017

Molecular Medicine Reports

Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
Kause, F., Reutter, H., Marsch, F., Thiele, H., Altmüller, J., Ludwig, M. and Zhang, R.
Molecular Medicine Reports 17 (2): 3200-3205. February 2018

Molecular Metabolism

NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition.
Vesting, A.J., Jais, A., Klemm, P., Steuernagel, L., Wienand, P., Fog-Tonnesen, M., Hvid, H., Schumacher, A.L., Kukat, C., Nolte, H., Georgomanolis, T., Altmüller, J., Pasparakis, M., Schmidt, A., Krüger, M., Supprian, M.S., Waisman, A., Straub, B.K., Raschzok, N., Bernier, M., Birkenfeld, A.L., Hövelmeyer, N., Brüning, J.C. and Wunderlich, F.T.
Molecular Metabolism 66 : 101626. December 2022

Molecular Oncology

Cell type-specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics.
Krämer, M., Plum, P.S., Velazquez Camacho, O., Folz-Donahue, K., Thelen, M., Garcia-Marquez, I., Wölwer, C., Büsker, S., Wittig, J., Franitza, M., Altmüller, J., Löser, H., Schlößer, H., Büttner, R., Schröder, W., Bruns, C.J., Alakus, H., Quaas, A., Chon, S.H. and Hillmer, A.M.
Molecular Oncology 14 (6): 1170-1184. June 2020

Molecular Psychiatry

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Griesi-Oliveira, K., Fogo, M.S., Pinto, B.G.G., Alves, A.Y., Suzuki, A.M., Morales, A.G., Ezquina, S., Sosa, O.J., Sutton, G.J., Sunaga-Franze, D.Y., Bueno, A.P., Seabra, G., Sardinha, L., Costa, S.S., Rosenberg, C., Zachi, E.C., Sertie, A.L., Martins-de-Souza, D., Reis, E.M., Voineagu, I. and Passos-Bueno, M.R.
Molecular Psychiatry 26 (5): 1589-1605. May 2021

Molecular Syndromology

A novel mutation in PIGA associated with multiple congenital anomalies-hypotonia-seizure syndrome 2 (MCAHS2) in a boy with a combination of severe epilepsy and gingival hyperplasia.
Neuhofer, C.M., Funke, R., Wilken, B., Knaus, A., Altmüller, J., Nürnberg, P., Li, Y., Wollnik, B., Burfeind, P. and Pauli, S.
Molecular Syndromology 11 (1): 30-37. February 2020

Molecular Systems Biology

A single-cell RNA labeling strategy for measuring stress response upon tissue dissociation.
Neuschulz, A., Bakina, O., Badillo Lisakowski, V., Olivares-Chauvet, P., Conrad, T., Gotthardt, M., Kettenmann, H. and Junker, J.P.
Molecular Systems Biology 19 (2): e11147. 10 February 2023

HMGB1 coordinates SASP-related chromatin folding and RNA homeostasis on the path to senescence.
Sofiadis, K., Josipovic, N., Nikolic, M., Kargapolova, Y., Übelmesser, N., Varamogianni-Mamatsi, V., Zirkel, A., Papadionysiou, I., Loughran, G., Keane, J., Michel, A., Gusmao, E.G., Becker, C., Altmüller, J., Georgomanolis, T., Mizi, A. and Papantonis, A.
Molecular Systems Biology 17 (6): e9760. 1 June 2021

Molecular and Cellular Biology

Loss of the hematopoietic stem cell factor GATA2 in the osteogenic lineage impairs trabecularization and mechanical strength of bone.
Tolkachov, A., Fischer, C., Ambrosi, T.H., Bothe, M., Han, C.T., Muenzner, M., Mathia, S., Salminen, M., Seifert, G., Thiele, M., Duda, G.N., Meijsing, S.H., Sauer, S., Schulz, T.J. and Schupp, M.
Molecular and Cellular Biology 38 (12): e00599-17. June 2018

Molecular and Cellular Probes

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Kuechler, A., Altmüller, J., Nürnberg, P., Kotthoff, S., Kubisch, C. and Borck, G.
Molecular and Cellular Probes 29 (5): 330-334. October 2015

Nature

Mapping the human genetic architecture of COVID-19.

Nature 600 (7889): 472-477. December 2021

Swarm Learning for decentralized and confidential clinical machine learning.
Warnat-Herresthal, S., Schultze, H., Shastry, K.L., Manamohan, S., Mukherjee, S., Garg, V., Sarveswara, R., Händler, K., Pickkers, P., Aziz, N.A., Ktena, S., Tran, F., Bitzer, M., Ossowski, S., Casadei, N., Herr, C., Petersheim, D., Behrends, U., Kern, F., Fehlmann, T., Schommers, P., Lehmann, C., Augustin, M., Rybniker, J., Altmüller, J., Mishra, N., Bernardes, J.P., Krämer, B., Bonaguro, L., Schulte-Schrepping, J., De Domenico, E., Siever, C., Kraut, M., Desai, M., Monnet, B., Saridaki, M., Siegel, C.M., Drews, A., Nuesch-Germano, M., Theis, H., Heyckendorf, J., Schreiber, S., Kim-Hellmuth, S., Nattermann, J., Skowasch, D., Kurth, I., Keller, A., Bals, R., Nürnberg, P., Rieß, O., Rosenstiel, P., Netea, M.G., Theis, F., Mukherjee, S., Backes, M., Aschenbrenner, A.C., Ulas, T., Breteler, M.M.B., Giamarellos-Bourboulis, E.J., Kox, M., Becker, M., Cheran, S., Woodacre, M.S., Goh, E.L. and Schultze, J.L.
Nature 594 (7862): 265-270. 10 June 2021

Polylox barcoding reveals haematopoietic stem cell fates realized in vivo.
Pei, W., Feyerabend, T.B., Rössler, J., Wang, X., Postrach, D., Busch, K., Rode, I., Klapproth, K., Dietlein, N., Quedenau, C., Chen, W., Sauer, S., Wolf, S., Höfer, T. and Rodewald, H.Re.
Nature 548 (7668): 456-460. 24 August 2017

Telomerase activation by genomic rearrangements in high-risk neuroblastoma.
Peifer, M., Hertwig, F., Roels, F., Dreidax, D., Gartlgruber, M., Menon, R., Krämer, A., Roncaioli, J.L., Sand, F., Heuckmann, J.M., Ikram, F., Schmidt, R., Ackermann, S., Engesser, A., Kahlert, Y., Vogel, W., Altmüller, J., Nürnberg, P., Thierry-Mieg, J., Thierry-Mieg, D., Mariappan, A., Heynck, S., Mariotti, E., Henrich, K.O., Gloeckner, C., Bosco, G., Leuschner, I., Schweiger, M.R., Savelyeva, L., Watkins, S.C., Shao, C., Bell, E., Höfer, T., Achter, V., Lang, U., Theissen, J., Volland, R., Saadati, M., Eggert, A., de Wilde, B., Berthold, F., Peng, Z., Zhao, C., Shi, L., Ortmann, M., Büttner, R., Perner, S., Hero, B., Schramm, A., Schulte, J.H., Herrmann, C., O'Sullivan, R.J., Westermann, F., Thomas, R.K. and Fischer, M.
Nature 526 (7575): 700-704. 29 October 2015

Comprehensive genomic profiles of small cell lung cancer.
George, J., Lim, J.S., Jang, S.J., Cun, Y., Ozretić, L., Kong, G., Leenders, F., Lu, X., Fernández-Cuesta, L., Bosco, G., Müller, C., Dahmen, I., Jahchan, N.S., Park, K.S., Yang, D., Karnezis, A.N., Vaka, D., Torres, A., Wang, M.S., Korbel, J.O., Menon, R., Chun, S.M., Kim, D., Wilkerson, M., Hayes, N., Engelmann, D., Pützer, B., Bos, M., Michels, S., Vlasic, I., Seidel, D., Pinther, B., Schaub, P., Becker, C., Altmüller, J., Yokota, J., Kohno, T., Iwakawa, R., Tsuta, K., Noguchi, M., Muley, T., Hoffmann, H., Schnabel, P.A., Petersen, I., Chen, Y., Soltermann, A., Tischler, V., Choi, C.M., Kim, Y.H., Massion, P.P., Zou, Y., Jovanovic, D., Kontic, M., Wright, G.M., Russell, P.A., Solomon, B., Koch, I., Lindner, M., Muscarella, L.A., la Torre, A., Field, J.K., Jakopovic, M., Knezevic, J., Castaños-Vélez, E., Roz, L., Pastorino, U., Brustugun, O.T., Lund-Iversen, M., Thunnissen, E., Köhler, J., Schuler, M., Botling, J., Sandelin, M., Sanchez-Cespedes, M., Salvesen, H.B., Achter, V., Lang, U., Bogus, M., Schneider, P.M., Zander, T., Ansén, S., Hallek, M., Wolf, J., Vingron, M., Yatabe, Y., Travis, W.D., Nürnberg, P., Reinhardt, C., Perner, S., Heukamp, L., Büttner, R., Haas, S.A., Brambilla, E., Peifer, M., Sage, J. and Thomas, R.K.
Nature 524 (7563): 47-53. 6 August 2015