Browse by Journal Title

2024

Mitochondrial genetics through the lens of single-cell multi-omics.
Nitsch, L., Lareau, C.A. and Ludwig, L.S.
Nature Genetics 56 (7): 1355-1365. July 2024

Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells.
Grimes, K., Jeong, H., Amoah, A., Xu, N., Niemann, J., Raeder, B., Hasenfeld, P., Stober, C., Rausch, T., Benito, E., Jann, J.C., Nowak, D., Emini, R., Hoenicka, M., Liebold, A., Ho, A., Shuai, S., Geiger, H., Sanders, A.D. and Korbel, J.O.
Nature Genetics 56 (6): 1134-1146. June 2024

2023

Systematic perturbation of chromatin factors identifies regulatory networks during healthy and malignant hematopoiesis.
Solé-Boldo, L. and Haas, S.
Nature Genetics 55 (9): 1430-1431. September 2023

Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.
Lareau, C.A., Dubois, S.M., Buquicchio, F.A., Hsieh, Y.H., Garg, K., Kautz, P., Nitsch, L., Praktiknjo, S.D., Maschmeyer, P., Verboon, J.M., Gutierrez, J.C., Yin, Y., Fiskin, E., Luo, W., Mimitou, E.P., Muus, C., Malhotra, R., Parikh, S., Fleming, M.D., Oevermann, L., Schulte, J., Eckert, C., Kundaje, A., Smibert, P., Vardhana, S.A., Satpathy, A.T., Regev, A., Sankaran, V.G., Agarwal, S. and Ludwig, L.S.
Nature Genetics 55 (7): 1198-1209. July 2023

Integrating genetics with single-cell multiomic measurements across disease states identifies mechanisms of beta cell dysfunction in type 2 diabetes.
Wang, G., Chiou, J., Zeng, C., Miller, M., Matta, I., Han, J.Y., Kadakia, N., Okino, M.L., Beebe, E., Mallick, M., Camunas-Soler, J., Dos Santos, T., Dai, X.Q., Ellis, C., Hang, Y., Kim, S.K., MacDonald, P.E., Kandeel, F.R., Preissl, S., Gaulton, K.J. and Sander, M.
Nature Genetics 55 (6): 984-994. June 2023

Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells.
Chamorro González, R., Conrad, T., Stöber, M.C., Xu, R., Giurgiu, M., Rodriguez-Fos, E., Kasack, K., Brückner, L., van Leen, E., Helmsauer, K., Dorado Garcia, H., Stefanova, M.E., Hung, K.L., Bei, Y., Schmelz, K., Lodrini, M., Mundlos, S., Chang, H.Y., Deubzer, H.E., Sauer, S., Eggert, A., Schulte, J.H., Schwarz, R.F., Haase, K., Koche, R.P. and Henssen, A.G.
Nature Genetics 55 (5): 880-890. May 2023

Disentangling extrachromosomal circular DNA heterogeneity in single cells with scEC&T-seq.
Chamorro González, R. and Henssen, A.G.
Nature Genetics 55 (5): 740-741. May 2023

Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
Mangiante, L., Alcala, N., Sexton-Oates, A., Di Genova, A., Gonzalez-Perez, A., Khandekar, A., Bergstrom, E.N., Kim, J., Liu, X., Blazquez-Encinas, R., Giacobi, C., Le Stang, N., Boyault, S., Cuenin, C., Tabone-Eglinger, S., Damiola, F., Voegele, C., Ardin, M., Michallet, M.C., Soudade, L., Delhomme, T.M., Poret, A., Brevet, M., Copin, M.C., Giusiano-Courcambeck, S., Damotte, D., Girard, C., Hofman, V., Hofman, P., Mouroux, J., Cohen, C., Lacomme, S., Mazieres, J., de Montpreville, V.T., Perrin, C., Planchard, G., Rousseau, N., Rouquette, I., Sagan, C., Scherpereel, A., Thivolet, F., Vignaud, J.M., Jean, D., Ilg, A.G.S., Olaso, R., Meyer, V., Boland-Auge, A., Deleuze, J.F., Altmuller, J., Nuernberg, P., Ibáñez-Costa, A., Castaño, J.P., Lantuejoul, S., Ghantous, A., Maussion, C., Courtiol, P., Hernandez-Vargas, H., Caux, C., Girard, N., Lopez-Bigas, N., Alexandrov, L.B., Galateau-Salle, F., Foll, M. and Fernandez-Cuesta, L.
Nature Genetics 55 (4): 607-618. April 2023

Spurious transcription causing innate immune responses is prevented by 5-hydroxymethylcytosine.
Wu, F., Li, X., Looso, M., Liu, H., Ding, D., Günther, S., Kuenne, C., Liu, S., Weissmann, N., Boettger, T., Atzberger, A., Kolahian, S., Renz, H., Offermanns, S., Gärtner, U., Potente, M., Zhou, Y., Yuan, X. and Braun, T.
Nature Genetics 55 (1): 100-111. January 2023

2022

Targeted profiling of human extrachromosomal DNA by CRISPR-CATCH.
Hung, K.L., Luebeck, J., Dehkordi, S.R., Colón, C.I., Li, R., Wong, I.T.L., Coruh, C., Dharanipragada, P., Lomeli, S.H., Weiser, N.E., Moriceau, G., Zhang, X., Bailey, C., Houlahan, K.E., Yang, W., González, R.C., Swanton, C., Curtis, C., Jamal-Hanjani, M., Henssen, A.G., Law, J.A., Greenleaf, W.J., Lo, R.S., Mischel, P.S., Bafna, V. and Chang, H.Y.
Nature Genetics 54 (11): 1746–1754. November 2022

The evolutionary dynamics of extrachromosomal DNA in human cancers.
Lange, J.T., Rose, J.C., Chen, C.Y., Pichugin, Y., Xie, L., Tang, J., Hung, K.L., Yost, K.E., Shi, Q., Erb, M.L., Rajkumar, U., Wu, S., Taschner-Mandl, S., Bernkopf, M., Swanton, C., Liu, Z., Huang, W., Chang, H.Y., Bafna, V., Henssen, A.G., Werner, B. and Mischel, P.S.
Nature Genetics 54 (10): 1527-1533. October 2022

Origin and function of activated fibroblast states during zebrafish heart regeneration.
Hu, B., Lelek, S., Spanjaard, B., El-Sammak, H., Simões, M.G., Mintcheva, J., Aliee, H., Schäfer, R., Meyer, A.M., Theis, F., Stainier, D.Y.R., Panáková, D. and Junker, J.P.
Nature Genetics 54 (8): 1227-1237. August 2022

Transient activated fibroblasts contribute to zebrafish heart regeneration.
Junker, J.P. and Panáková, D.
Nature Genetics 54 (8): 1076-1077. August 2022

In vivo dissection of a clustered-CTCF domain boundary reveals developmental principles of regulatory insulation.
Anania, C., Acemel, R.D., Jedamzick, J., Bolondi, A., Cova, G., Brieske, N., Kühn, R., Wittler, L., Real, F.M. and Lupiáñez, D.G.
Nature Genetics July 2022

Multiomic atlas with functional stratification and developmental dynamics of zebrafish cis-regulatory elements.
Baranasic, D., Hörtenhuber, M., Balwierz, P.J., Zehnder, T., Mukarram, A.K., Nepal, C., Várnai, C., Hadzhiev, Y., Jimenez-Gonzalez, A., Li, N., Wragg, J., D'Orazio, F.M., Relic, D., Pachkov, M., Díaz, N., Hernández-Rodríguez, B., Chen, Z., Stoiber, M., Dong, M., Stevens, I., Ross, S.E., Eagle, A., Martin, R., Obasaju, O., Rastegar, S., McGarvey, A.C., Kopp, W., Chambers, E., Wang, D., Kim, H.R., Acemel, R.D., Naranjo, S., Łapiński, M., Chong, V., Mathavan, S., Peers, B., Sauka-Spengler, T., Vingron, M., Carninci, P., Ohler, U., Lacadie, S.A., Burgess, S.M., Winata, C., van Eeden, F., Vaquerizas, J.M., Gómez-Skarmeta, J.L., Onichtchouk, D., Brown, B.J., Bogdanovic, O., van Nimwegen, E., Westerfield, M., Wardle, F.C, Daub, C.O., Lenhard, B. and Müller, F.
Nature Genetics 54 (7): 1037-1050. July 2022

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.
Mahajan, A., Spracklen, C.N., Zhang, W., Ng, M.C.Y., Petty, L.E., Kitajima, H., Yu, G.Z., Rüeger, S., Speidel, L., Kim, Y.J., Horikoshi, M., Mercader, J.M., Taliun, D., Moon, S., Kwak, S.H., Robertson, N.R., Rayner, N.W., Loh, M., Kim, B.J., Chiou, J., Miguel-Escalada, I., Della Briotta Parolo, P., Lin, K., Bragg, F., Preuss, M.H., Takeuchi, F., Nano, J., Guo, X., Lamri, A., Nakatochi, M., Scott, R.A., Lee, J.., Huerta-Chagoya, A., Graff, M., Chai, J.F., Parra, E.J., Yao, J., Bielak, L.F., Tabara, Y., Hai, Y., Steinthorsdottir, V., Cook, J.P., Kals, M., Grarup, N., Schmidt, E.M., Pan, I., Sofer, T., Wuttke, M., Sarnowski, C., Gieger, C., Nousome, D., Trompet, S., Long, J., Sun, M., Tong, L., Chen, W.M., Ahmad, M., Noordam, R., Lim, V.J.Y., Tam, C.H.T., Joo, Y.Y., Chen, C.H., Raffield, L.M., Lecoeur, C., Prins, B.P., Nicolas, A., Yanek, L.R., Chen, G., Jensen, R.A., Tajuddin, S., Kabagambe, E.K., An, P., Xiang, A.H., Choi, H.S., Cade, B.E., Tan, J., Flanagan, J., Abaitua, F., Adair, L.S., Adeyemo, A., Aguilar-Salinas, C.A., Akiyama, M., Anand, S.S., Bertoni, A., Bian, Z., Bork-Jensen, J., Brandslund, I., Brody, J.A., Brummett, C.M., Buchanan, T.A., Canouil, M., Chan, J.C.N., Chang, L.C., Chee, M.L., Chen, J., Chen, S.H., Chen, Y.T., Chen, Z., Chuang, L.M., Cushman, M., Das, S.K., de Silva, H.J., Dedoussis, G., Dimitrov, L., Doumatey, A.P., Du, S., Duan, Q., Eckardt, K.U., Emery, L.S., Evans, D.S., Evans, M.K., Fischer, K., Floyd, J.S., Ford, I., Fornage, M., Franco, O.H., Frayling, T.M., Freedman, B.I., Fuchsberger, C., Genter, P., Gerstein, H.C., Giedraitis, V., González-Villalpando, C., González-Villalpando, M.E., Goodarzi, M.O., Gordon-Larsen, P., Gorkin, D., Gross, M., Guo, Y., Hackinger, S., Han, S., Hattersley, A.T., Herder, C., Howard, A.G., Hsueh, W., Huang, M., Huang, W., Hung, Y.J., Hwang, M.Y., Hwu, C.M., Ichihara, S., Ikram, M.A., Ingelsson, M., Islam, M.T., Isono, M., Jang, H.M., Jasmine, F., Jiang, G., Jonas, J.B., Jørgensen, M.E., Jørgensen, T., Kamatani, Y., Kandeel, F.R., Kasturiratne, A., Katsuya, T., Kaur, V., Kawaguchi, T., Keaton, J.M., Kho, A.N., Khor, C.C., Kibriya, M.G., Kim, D.H., Kohara, K., Kriebel, J., Kronenberg, F., Kuusisto, J., Läll, K., Lange, L.A., Lee, M.S., Lee, N.R., Leong, A., Li, L., Li, Y., Li-Gao, R., Ligthart, S., Lindgren, C.M., Linneberg, A., Liu, C.T., Liu, J., Locke, A.E., Louie, T., Luan, J., Luk, A.O., Luo, X., Lv, J., Lyssenko, V., Mamakou, V., Mani, K.R., Meitinger, T., Metspalu, A., Morris, A.D., Nadkarni, G.N., Nadler, J.L., Nalls, M.A., Nayak, U., Nongmaithem, S.S., Ntalla, I., Okada, Y., Orozco, L., Patel, S.R., Pereira, M.A., Peters, A., Pirie, F.J., Porneala, B., Prasad, G., Preissl, S., Rasmussen-Torvik, L.J., Reiner, A.P., Roden, M., Rohde, R., Roll, K., Sabanayagam, C., Sander, M., Sandow, K., Sattar, N., Schönherr, S., Schurmann, C., Shahriar, M., Shi, J., Shin, D.M., Shriner, D., Smith, J.A., So, W.Y., Stančáková, A., Stilp, A.M., Strauch, K., Suzuki, K., Takahashi, A., Taylor, K.D., Thorand, B., Thorleifsson, G., Thorsteinsdottir, U., Tomlinson, B., Torres, J.M., Tsai, F.J., Tuomilehto, J., Tusie-Luna, T., Udler, M.S., Valladares-Salgado, A., van Dam, R.M., van Klinken, J.B., Varma, R., Vujkovic, M., Wacher-Rodarte, N., Wheeler, E., Whitsel, E.A., Wickremasinghe, A.R., van Dijk, K.W., Witte, D.R., Yajnik, C.S., Yamamoto, K., Yamauchi, T., Yengo, L., Yoon, K., Yu, C., Yuan, J.M., Yusuf, S., Zhang, L., Zheng, W., Raffel, L.J., Igase, M., Ipp, E., Redline, S., Cho, Y.S., Lind, L., Province, M.A., Hanis, C.L., Peyser, P.A., Ingelsson, E., Zonderman, A.B., Psaty, B.M., Wang, Y.X., Rotimi, C.N., Becker, D.M., Matsuda, F., Liu, Y., Zeggini, E., Yokota, M., Rich, S.S., Kooperberg, C., Pankow, J.S., Engert, J.C., Chen, Y.D.I., Froguel, P., Wilson, J.G., Sheu, W.H.H., Kardia, S.L.R., Wu, J.Y., Hayes, M.G., Ma, R.C.W., Wong, T.Y., Groop, L., Mook-Kanamori, D.O., Chandak, G.R., Collins, F.S., Bharadwaj, D., Paré, G., Sale, M.M., Ahsan, H., Motala, A.A., Shu, X.O., Park, K.S., Jukema, J.W., Cruz, M., McKean-Cowdin, R., Grallert, H., Cheng, C.Y., Bottinger, E.P., Dehghan, A., Tai, E.S., Dupuis, J., Kato, N., Laakso, M., Köttgen, A., Koh, W.P., Palmer, C.N A., Liu, S., Abecasis, G., Kooner, J.S., Loos, R.J.F., North, K.E., Haiman, C.A., Florez, J.C., Saleheen, D., Hansen, T., Pedersen, O., Mägi, R., Langenberg, C., Wareham, N.J., Maeda, S., Kadowaki, T., Lee, J., Millwood, I.Y., Walters, R.G., Stefansson, K., Myers, S.R., Ferrer, J., Gaulton, K.J., Meigs, J.B., Mohlke, K.L., Gloyn, A.L., Bowden, D.W., Below, J.E., Chambers, J.C., Sim, X., Boehnke, M., Rotter, J.I., McCarthy, M.I. and Morris, A.P.
Nature Genetics 54 (5): 560-572. May 2022

The genomic and spatial mobility of extrachromosomal DNA and its implications for cancer therapy.
van Leen, E., Brückner, L. and Henssen, A.G.
Nature Genetics 54 (2): 107-114. February 2022

2021

Chromothripsis followed by circular recombination drives oncogene amplification in human cancer.
Rosswog, C., Bartenhagen, C., Welte, A., Kahlert, Y., Hemstedt, N., Lorenz, W., Cartolano, M., Ackermann, S., Perner, S., Vogel, W., Altmüller, J., Nürnberg, P., Hertwig, F., Göhring, G., Lilienweiss, E., Stütz, A.M., Korbel, J.O., Thomas, R.K., Peifer, M. and Fischer, M.
Nature Genetics 53 (12): 1673–1685. December 2021

CTCF mediates dosage- and sequence-context-dependent transcriptional insulation by forming local chromatin domains.
Huang, H., Zhu, Q., Jussila, A., Han, Y., Bintu, B., Kern, C., Conte, M., Zhang, Y., Bianco, S., Chiariello, A.M., Yu, M., Hu, R., Tastemel, M., Juric, I., Hu, M., Nicodemi, M., Zhuang, X. and Ren, B.
Nature Genetics 53 (7): 1064-1074. July 2021

A resource of targeted mutant mouse lines for 5,061 genes.
Birling, M.C., Yoshiki, A., Adams, D.J., Ayabe, S., Beaudet, A.L., Bottomley, J., Bradley, A., Brown, S.D.M., Bürger, A., Bushell, W., Chiani, F., Chin, H.J.G., Christou, S., Codner, G.F., DeMayo, F.J., Dickinson, M.E., Doe, B., Donahue, L.R., Fray, M.D., Gambadoro, A., Gao, X., Gertsenstein, M., Gomez-Segura, A., Goodwin, L.O., Heaney, J.D., Hérault, Y., de Angelis, M.H., Jiang, S.T., Justice, M.J., Kasparek, P., King, R.E., Kühn, R., Lee, H., Lee, Y.J., Liu, Z., Lloyd, K.C.K., Lorenzo, I., Mallon, A.M., McKerlie, C., Meehan, T.F., Fuentes, V.M., Newman, S., Nutter, L.M.J., Oh, G.T., Pavlovic, G., Ramirez-Solis, R., Rosen, B., Ryder, E.J., Santos, L.A., Schick, J., Seavitt, J.R., Sedlacek, R., Seisenberger, C., Seong, J.K., Skarnes, W.C., Sorg, T., Steel, K.P., Tamura, M., Tocchini-Valentini, G.P., Wang, C.K.L., Wardle-Jones, H., Wattenhofer-Donzé, M., Wells, S., Wiles, M.V., Willis, B.J., Wood, J.A., Wurst, W., Xu, Y., Teboul, L. and Murray, S.A.
Nature Genetics 53 (4): 416-419. April 2021

Single-cell chromatin accessibility identifies pancreatic islet cell type- and state-specific regulatory programs of diabetes risk.
Chiou, J., Zeng, C., Cheng, Z., Han, J.Y., Schlichting, M., Miller, M., Mendez, R., Huang, S., Wang, J., Sui, Y., Deogaygay, A., Okino, M.L., Qiu, Y., Sun, Y., Kudtarkar, P., Fang, R., Preissl, S., Sander, M., Gorkin, D.U. and Gaulton, K.J.
Nature Genetics 53 (4): 455-466. April 2021

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Harper, A.R., Goel, A., Grace, C., Thomson, K.L., Petersen, S.E., Xu, X., Waring, A., Ormondroyd, E., Kramer, C.M., Ho, C.Y., Neubauer, S., Tadros, R., Ware, J.S., Bezzina, C.R., Farrall, M. and Watkins, H.
Nature Genetics 53 (2): 135-142. February 2021

2020

Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers.
Kim, H., Nguyen, N.P., Turner, K., Wu, S., Gujar, A.D., Luebeck, J., Liu, J., Deshpande, V., Rajkumar, U., Namburi, S., Amin, S.B., Yi, E., Menghi, F., Schulte, J.H., Henssen, A.G., Chang, H.Y., Beck, C.R., Mischel, .S., Bafna, V. and Verhaak, R.G.W.
Nature Genetics 52 (9): 891-897. September 2020

Recurrent inversion toggling and great ape genome evolution.
Porubsky, D., Sanders, A.D., Höps, W., Hsieh, P., Sulovari, A., Li, R., Mercuri, L., Sorensen, M., Murali, S.C., Gordon, D., Cantsilieris, S., Pollen, A.A., Ventura, M., Antonacci, F., Marschall, T., Korbel, J.O. and Eichler, E.E.
Nature Genetics 52 (8): 849-858. August 2020

Lysine 4 of histone H3.3 is required for embryonic stem cell differentiation, histone enrichment at regulatory regions and transcription accuracy.
Gehre, M., Bunina, D., Sidoli, S., Lübke, M.J., Diaz, N., Trovato, M., Garcia, B.A., Zaugg, J.B. and Noh, K.M.
Nature Genetics 52 (3): 273-282. March 2020

Interplay between whole-genome doubling and the accumulation of deleterious alterations in cancer evolution.
López, S., Lim, E.L., Horswell, S., Haase, K., Huebner, A., Dietzen, M., Mourikis, T.P., Watkins, T.B.K., Rowan, A., Dewhurst, S.M., Birkbak, N.J., Wilson, G.A., Van Loo, P., Jamal-Hanjani, M., Swanton, C. and McGranahan, N.
Nature Genetics 52 (3): 283-293. March 2020

Extrachromosomal circular DNA drives oncogenic genome remodeling in neuroblastoma.
Koche, R.P., Rodriguez-Fos, E., Helmsauer, K., Burkert, M., MacArthur, I.C., Maag, J., Chamorro, R., Munoz-Perez, N., Puiggròs, M., Dorado Garcia, H., Bei, Y., Röefzaad, C., Bardinet, V., Szymansky, A., Winkler, A., Thole, T., Timme, N., Kasack, K., Fuchs, S., Klironomos, F., Thiessen, N., Blanc, E., Schmelz, K., Künkele, A., Hundsdörfer, P., Rosswog, C., Theissen, J., Beule, D., Deubzer, H., Sauer, S., Toedling, J., Fischer, M., Hertwig, F., Schwarz, R.F., Eggert, A., Torrents, D., Schulte, J.H. and Henssen, A.G.
Nature Genetics 52 (1): 29-34. January 2020

2019

Jumping retroviruses nudge TADs apart.
Robson, M.I. and Mundlos, S.
Nature Genetics 51 (9): 1304-1305. September 2019

Release of paused RNA polymerase II at specific loci favors DNA double-strand-break formation and promotes cancer translocations.
Dellino, G.I., Palluzzi, F., Chiariello, A.M., Piccioni, R., Bianco, S., Furia, L., De Conti, G., Bouwman, B.A.M., Melloni, G., Guido, D., Giacò, L., Luzi, L., Cittaro, D., Faretta, M., Nicodemi, M., Crosetto, N. and Pelicci, P.G.
Nature Genetics 51 (6): 1011-1023. June 2019

Interrogation of human hematopoiesis at single-cell and single-variant resolution.
Ulirsch, J.C., Lareau, C.A., Bao, E.L., Ludwig, L.S., Guo, M.H., Benner, C., Satpathy, A.T., Kartha, V.K., Salem, R.M., Hirschhorn, J.N., Finucane, H.K., Aryee, M.J., Buenrostro, J.D. and Sankaran, V.G.
Nature Genetics 51 (4): 683-693. April 2019

2018

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis.
Kragesteen, B.K., Spielmann, M., Paliou, C., Heinrich, V., Schöpflin, R., Esposito, A., Annunziatella, C., Bianco, S., Chiariello, A.M., Jerković, I., Harabula, I., Guckelberger, P., Pechstein, M., Wittler, L., Chan, Wi.L., Franke, M., Lupiáñez, D.G., Kraft, K., Timmermann, B., Vingron, M., Visel, A., Nicodemi, M., Mundlos, S. and Andrey, G.
Nature Genetics 50 (10): 1463-1473. October 2018

Challenges and guidelines toward 4D nucleome data and model standards.
Marti-Renom, M.A., Almouzni, G., Bickmore, W.A., Bystricky, K., Cavalli, G., Fraser, P., Gasser, S.M., Giorgetti, L., Heard, E., Nicodemi, M., Nollmann, M., Orozco, M., Pombo, A. and Torres-Padilla, M.E.
Nature Genetics 50 (10): 1352-1358. October 2018

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.
Waage, J., Standl, M., Curtin, J.A., Jessen, L.E., Thorsen, J., Tian, C., Schoettler, N., Flores, C., Abdellaoui, A., Ahluwalia, T.S., Alves, A.C., Amaral, A.F.S., Antó, J.M., Arnold, A., Barreto-Luis, A., Baurecht, H., van Beijsterveldt, C.E.M., Bleecker, E.R., Bonàs-Guarch, S., Boomsma, D.I., Brix, S., Bunyavanich, S., Burchard, E.G., Chen, Z., Curjuric, I., Custovic, A., den Dekker, H.T., Dharmage, S.C., Dmitrieva, J., Duijts, L., Ege, M.J., Gauderman, W.J., Georges, M., Gieger, C., Gilliland, F., Granell, R., Gui, H., Hansen, T., Heinrich, J., Henderson, J., Hernandez-Pacheco, N., Holt, P., Imboden, M., Jaddoe, V.W.V., Jarvelin, M.R., Jarvis, D.L., Jensen, K.K., Jónsdóttir, I., Kabesch, M., Kaprio, J., Kumar, A., Lee, Y.A., Levin, A.M., Li, X., Lorenzo-Diaz, F., Melén, E., Mercader, J.M., Meyers, D.A., Myers, R., Nicolae, D.L., Nohr, E.A., Palviainen, T., Paternoster, L., Pennell, C.E., Pershagen, G., Pino-Yanes, M., Probst-Hensch, N.M., Rüschendorf, F., Simpson, A., Stefansson, K., Sunyer, J., Sveinbjornsson, G., Thiering, E., Thompson, P.J., Torrent, M., Torrents, D., Tung, J.Y., Wang, C.A., Weidinger, S., Weiss, S., Willemsen, G., Williams, L.K., Ober, C., Hinds, D.A., Ferreira, M.A., Bisgaard, H., Strachan, D.P. and Bønnelykke, K.
Nature Genetics 50 (8): 1072-1080. August 2018

UTX-mediated enhancer and chromatin remodeling suppresses myeloid leukemogenesis through noncatalytic inverse regulation of ETS and GATA programs.
Gozdecka, M., Meduri, E., Mazan, M., Tzelepis, K., Dudek, M., Knights, A.J., Pardo, M., Yu, L., Choudhary, J.S., Metzakopian, E., Iyer, V., Yun, H., Park, N., Varela, I., Bautista, R., Collord, G., Dovey, O., Garyfallos, D.A., De Braekeleer, E., Kondo, S., Cooper, J., Göttgens, B., Bullinger, L., Northcott, P.A., Adams, D., Vassiliou, G.S. and Huntly, B.J.P.
Nature Genetics 50 (6): 883-894. June 2018

Polymer physics predicts the effects of structural variants on chromatin architecture.
Bianco, S., Lupiáñez, D.G., Chiariello, A.M., Annunziatella, C., Kraft, K., Schöpflin, R., Wittler, L., Andrey, G., Vingron, M., Pombo, A., Mundlos, S. and Nicodemi, M.
Nature Genetics 50 (5): 662-667. May 2018

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
Fernandes-Rosa, F.L., Daniil, G., Orozco, I.J., Göppner, C., El Zein, R., Jain, V., Boulkroun, S., Jeunemaitre, X., Amar, L., Lefebvre, H., Schwarzmayr, T., Strom, T.M., Jentsch, T.J. and Zennaro, M.C.
Nature Genetics 50 (3): 355-361. March 2018

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.
Scholl, U.I., Stölting, G., Schewe, J., Thiel, A., Tan, H., Nelson-Williams, C., Vichot, A.A., Jin, S.C., Loring, E., Untiet, V., Yoo, T., Choi, J., Xu, S., Wu, A., Kirchner, M., Mertins, P., Rump, L.C., Onder, A.M., Gamble, C., McKenney, D., Lash, R.W., Jones, D.P., Chune, G., Gagliardi, P., Choi, M., Gordon, R., Stowasser, M., Fahlke, C. and Lifton, R.P.
Nature Genetics 50 (3): 349-354. March 2018

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Demenais, F., Margaritte-Jeannin, P., Barnes, K.C., Cookson, W.O.C., Altmüller, J., Ang, W., Barr, R.G., Beaty, T.H., Becker, A.B., Beilby, J., Bisgaard, H., Bjornsdottir, U.S., Bleecker, E., Bonnelykke, K., Boomsma, D.I., Bouzigon, E., Brightling, C.E., Brossard, M., Brusselle, G.G., Burchard, E., Burkart, K.M., Bush, A., Chan-Yeung, M., Chung, K.F., Couto Alves, A., Curtin, J.A., Custovic, A., Daley, D., de Jongste, J.C., Del-Rio-Navarro, B.E., Donohue, K.M., Duijts, L., Eng, C., Eriksson, J.G., Farrall, M., Fedorova, Y., Feenstra, B., Ferreira, M.A., Freidin, M.B., Gajdos, Z., Gauderman, J., Gehring, U., Geller, F., Genuneit, J., Gharib, S.A, Gilliland, F., Granell, R., Graves, P.E., Gudbjartsson, D.F., Haahtela, T., Heckbert, S.R., Heederik, D., Heinrich, J., Helioevaara, M., Henderson, J., Himes, B.E., Hirose, H., Hirschhorn, J.N., Hofman, A., Holt, P., Hottenga, J., Hudson, T.J., Hui, J., Imboden, M., Ivanov, V., Jaddoe, V.W.V., James, A., Janson, C., Jarvelin, M.R., Jarvis, D., Jones, G., Jonsdottir, I., Jousilahti, P., Kabesch, M., Kähönen, M., Kantor, D.B., Karunas, A.S., Khusnutdinova, E., Koppelman, G.H., Kozyrskyj, A.L., Kreiner, E., Kubo, M., Kumar, R., Kumar, A., Kuokkanen, M., Lahousse, L., Laitinen, T., Laprise, C., Lathrop, M., Lau, S., Lee, Y.A., Lehtimaeki, T., Letort, S., Levin, A.M., Li, G., Liang, L., Loehr, L.R., London, S.J., Loth, D.W., Manichaikul, A., Marenholz, I., Martinez, F.J., Matheson, M.C., Mathias, R.A., Matsumoto, K., Mbarek, H., McArdle, W.L., Melbye, M., Melen, E., Meyers, D., Michel, S., Mohamdi, H., Musk, A.W., Myers, R.A., Nieuwenhuis, M.A.E., Noguchi, E., O'Connor, G.T., Ogorodova, L.M., Palmer, C.D., Palotie, A., Park, J.E., Pennell, C.E., Pershagen, G., Polonikov, A., Postma, D.S., Probst-Hensch, N., Puzyrev, V.P., Raby, B.A., Raitakari, O.T., Ramasamy, A., Rich, S.S., Robertson, C.F., Romieu, I., Salam, M.T., Salomaa, V., Schluenssen, V., Scott, R., Selivanova, P.A., Sigsgaard, T., Simpson, A., Siroux, V., Smith, L.J., Solodilova, M., Standl, M., Stefansson, K., Strachan, D.P., Stricker, B.H., Takahashi, A., Thompson, P.J., Thorleifsson, G., Thorsteinsdottir, U., Tiesler, C.M.T., Torgerson, D.G., Tsunoda, T., Uitterlinden, A.G., van der Valk, R.J.P., Vaysse, A., Vedantam, S., von Berg, A., von Mutius, E., Vonk, J.M., Waage, J., Wareham, N.J., Weiss, S.T., White, W.B., Wickman, M., Widén, E., Willemsen, G., Williams, L.K., Wouters, I.M., Yang, J.J., Zhao, J.H., Moffatt, M.F., Ober, C. and Nicolae, D.L.
Nature Genetics 50 (1): 42-53. January 2018

2017

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
Ferreira, M.A., Vonk, J.M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J.D., Helmer, Q., Tillander, A., Ullemar, V., van Dongen, J., Lu, Yi, Rueschendorf, F., Esparza-Gordillo, J., Medway, C.W., Mountjoy, E., Burrows, K., Hummel, O., Grosche, S., Brumpton, B.M., Witte, J.S., Hottenga, J.J., Willemsen, G., Zheng, J., Rodriguez, E., Hotze, M., Franke, A., Revez, J.A., Beesley, J., Matheson, M.C., Dharmage, S.C., Bain, L.M., Fritsche, L.G., Gabrielsen, M.E., Balliu, B., Nielsen, J.B., Zhou, W., Hveem, K., Langhammer, A., Holmen, O.L., Løset, M., Abecasis, G.R., Willer, C.J., Arnold, A., Homuth, G., Schmidt, C.O., Thompson, P.J., Martin, N.G., Duffy, D.L., Novak, N., Schulz, H., Karrasch, S., Gieger, C., Strauch, K., Melles, R.B., Hinds, D.A., Hübner, N., Weidinger, S., Magnusson, P.K.E., Jansen, R., Jorgenson, E., Lee, Y.A., Boomsma, D.I., Almqvist, C., Karlsson, R., Koppelman, G.H. and Paternoster, L.
Nature Genetics 49 (12): 1752-1757. December 2017

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).
Will, A.J., Cova, G., Osterwalder, M., Chan, W.L., Wittler, L., Brieske, N., Heinrich, V., de Villartay, J.P., Vingron, M., Klopocki, E., Visel, A., Lupiáñez, D.G. and Mundlos, S.
Nature Genetics 49 (10): 1539-1545. October 2017

DNMT and HDAC inhibitors induce cryptic transcription start sites encoded in long terminal repeats.
Brocks, D., Schmidt, C.R., Daskalakis, M., Jang, H.S., Shah, N.M., Li, D., Li, J., Zhang, B., Hou, Y., Laudato, S., Lipka, D.B., Schott, J., Bierhoff, H., Assenov, Y., Helf, M., Ressnerova, A., Islam, M.S., Lindroth, A.M., Haas, S., Essers, M., Imbusch, C.D., Brors, B., Oehme, I., Witt, O., Lübbert, M., Mallm, J.P., Rippe, K., Will, R., Weichenhan, D., Stoecklin, G., Gerhäuser, C., Oakes, C.C., Wang, T. and Plass, C.
Nature Genetics 49 (7): 1052-1060. July 2017

PGBD5 promotes site-specific oncogenic mutations in human tumors.
Henssen, A.G., Koche, R., Zhuang, J., Jiang, E., Reed, C., Eisenberg, A., Still, E., MacArthur, I.C., Rodriguez-Fos, E., Gonzalez, S., Puiggròs, M., Blackford, A.N., Mason, C.E., de Stanchina, E., Gönen, M., Emde, A.K., Shah, M., Arora, K., Reeves, C., Socci, N.D., Perlman, E., Antonescu, C.R., Roberts, C.W.M., Steen, H., Mullen, E., Jackson, S.P., Torrents, D., Weng, Z., Armstrong, S.A. and Kentsis, A.
Nature Genetics 49 (7): 1005-1014. July 2017

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds, J.J., Bicknell, L.S., Carroll, P., Higgs, M.R., Shaheen, R., Murray, J.E., Papadopoulos, D.K., Leitch, A., Murina, O., Tarnauskaitė, Ž., Wessel, S.R., Zlatanou, A., Vernet, A., von Kriegsheim, A., Mottram, R.M.A., Logan, C.V., Bye, H., Li, Y., Brean, A., Maddirevula, S., Challis, R.C., Skouloudaki, K., Almoisheer, A., Alsaif, H.S., Amar, A., Prescott, N.J., Bober, M.B., Duker, A., Faqeih, E., Seidahmed, M.Z., Al Tala, S., Alswaid, A., Ahmed, S., Al-Aama, J.Y., Altmüller, J., Al Balwi, M., Brady, A.F., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B.D., Hobson, E., Nürnberg, P., Percin, E.F., Peron, A., Spaccini, L., Quigley, A.J., Thakur, S., Wise, C.A., Yoon, G., Alnemer, M., Tomancak, P., Yigit, G., Taylor, A.M.R., Reijns, M.A.M., Simpson, M.A., Cortez, D., Alkuraya, F.S., Mathew, C.G., Jackson, A.P. and Stewart, G.S.
Nature Genetics 49 (4): 537-549. April 2017

Precision oncology for acute myeloid leukemia using a knowledge bank approach.
Gerstung, M., Papaemmanuil, E., Martincorena, I., Bullinger, L., Gaidzik, V.I., Paschka, P., Heuser, M., Thol, F., Bolli, N., Ganly, P., Ganser, A., McDermott, U., Döhner, K., Schlenk, R.F., Döhner, H. and Campbell, P.J.
Nature Genetics 49 (3): 332-340. March 2017

Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer, S., de Marvao, A., Adami, E., Fiedler, L.R., Ng, B., Khin, E., Rackham, O.J.L., van Heesch, S., Pua, C.J., Kui, M., Walsh, R., Tayal, U., Prasad, S.K., Dawes, T.J.W., Ko, N.S.J., Sim, D., Chan, L.L.H., Chin, C.W.L., Mazzarotto, F., Barton, P.J., Kreuchwig, F., de Kleijn, D.P.V., Totman, T., Biffi, C., Tee, N., Rueckert, D., Schneider, V., Faber, A., Regitz-Zagrosek, V., Seidman, J.G., Seidman, C.E., Linke, W.A., Kovalik, J.P., O'Regan, D., Ware, J.S., Hubner, N. and Cook, S.A.
Nature Genetics 49 (1): 46-53. January 2017

2016

The genomic landscape of core-binding factor acute myeloid leukemias.
Faber, Z.J., Chen, X., Gedman, A.L., Boggs, K., Cheng, J., Ma, J., Radtke, I., Chao, J.R., Walsh, M.P., Song, G., Andersson, A.K., Dang, J., Dong, L., Liu, Y., Huether, R., Cai, Z., Mulder, H., Wu, G., Edmonson, M., Rusch, M., Qu, C., Li, Y., Vadodaria, B., Wang, J., Hedlund, E., Cao, X., Yergeau, D., Nakitandwe, J., Pounds, S.B., Shurtleff, S., Fulton, R.S., Fulton, L.L., Easton, J., Parganas, E., Pui, C.H., Rubnitz, J.E., Ding, L., Mardis, E.R., Wilson, R.K., Gruber, T.A., Mullighan, C.G., Schlenk, R.F., Paschka, P., Döhner, K., Döhner, H., Bullinger, L., Zhang, J., Klco, J.M. and Downing, J.R.
Nature Genetics 48 (12): 1551-1556. December 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim, A., Hitz, M.P., Wilsdon, A., Breckpot, J., Turki, S.H.A., Thienpont, B., McRae, J., Fitzgerald, T.W., Singh, T., Swaminathan, G.J., Prigmore, E., Rajan, D., Abdul-Khaliq, H., Banka, S., Bauer, U.M.M., Bentham, J., Berger, F., Bhattacharya, S., Bu'Lock, F., Canham, N., Colgiu, I.G., Cosgrove, C., Cox, H., Daehnert, I., Daly, A., Danesh, J., Fryer, A., Gewillig, M., Hobson, E., Hoff, K., Homfray, T., Kahlert, A.K., Ketley, A., Kramer, H.H., Lachlan, K., Lampe, A.K., Louw, J.J., Manickara, A.K., Manase, D., McCarthy, K.P., Metcalfe, K., Moore, C., Newbury-Ecob, R., Omer, S.O., Ouwehand, W.H., Park, S.M., Parker, M.J., Pickardt, T., Pollard, M.O., Robert, L., Roberts, D.J., Sambrook, J., Setchfield, K., Stiller, B., Thornborough, C., Toka, O., Watkins, H., Williams, D., Wright, M., Mital, S., Daubeney, P.E.F., Keavney, B., Goodship, J., Abu-Sulaiman, R.M., Klaassen, S., Wright, C.F., Firth, H.V., Barrett, J.C., Devriendt, K., FitzPatrick, D.R., Brook, J.D. and Hurles, M.E.
Nature Genetics 48 (9): 1060-1065. 1 August 2016

2015

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster, L., Standl, M., Waage, J., Baurecht, H., Hotze, M., Strachan, D.P., Curtin, J.A., Bønnelykke, K., Tian, C., Takahashi, A., Esparza-Gordillo, J., Alves, A.C., Thyssen, J.P., den Dekker, H.T., Ferreira, M.A., Altmaier, E., Sleiman, P.M.A., Xiao, F.L., Gonzalez, J.R., Marenholz, I., Kalb, B., Pino-Yanes, M., Xu, C.J., Carstensen, L., Groen-Blokhuis, M.M., Venturini, C., Pennell, C.E., Barton, S.J., Levin, A.M., Curjuric, I., Bustamante, M., Kreiner-Møller, E., Lockett, G.A., Bacelis, J., Bunyavanich, S., Myers, R.A., Matanovic, A., Kumar, A., Tung, J.Y., Hirota, T., Kubo, M., McArdle, W.L., Henderson, A.J., Kemp, J.P., Zheng, J., Smith, G.D., Rüschendorf, F., Bauerfeind, A., Lee-Kirsch, M.A., Arnold, A., Homuth, G., Schmidt, C.O., Mangold, E., Cichon, S., Keil, T., Rodríguez, E., Peters, A., Franke, A., Lieb, W., Novak, N., Fölster-Holst, R., Horikoshi, M., Pekkanen, J., Sebert, S., Husemoen, L.L., Grarup, N., de Jongste, J.C., Rivadeneira, F., Hofman, A., Jaddoe, V.W.V., Pasmans, S.G.M.A., Elbert, N.J., Uitterlinden, A.G., Marks, G.B., Thompson, P.J., Matheson, M.C., Robertson, C.F., Ried, J.S., Li, J., Zuo, X.B., Zheng, X.D., Yin, X.Y., Sun, L.D., McAleer, M.A., O'Regan, G.M., Fahy, C.M.R., Campbell, L.E., Macek, M., Kurek, M., Hu, D., Eng, C., Postma, D.S., Feenstra, B., Geller, F., Hottenga, J.J., Middeldorp, C.M., Hysi, P., Bataille, V., Spector, T., Tiesler, C.M.T., Thiering, E., Pahukasahasram, B., Yang, J.J., Imboden, M., Huntsman, S., Vilor-Tejedor, N., Relton, C.L., Myhre, R., Nystad, W., Custovic, A., Weiss, S.T., Meyers, D.A., Söderhäll, C., Melén, E., Ober, C., Raby, B.A., Simpson, A., Jacobsson, B., Holloway, J.W., Bisgaard, H., Sunyer, J., Probst-Hensch, N.M., Williams, L.K., Godfrey, K.M., Wang, C.A., Boomsma, D.I., Melbye, M., Koppelman, G.H., Jarvis, D., McLean, W.H.I., Irvine, A.D., Zhang, X.J., Hakonarson, H., Gieger, C., Burchard, E.G., Martin, N.G., Duijts, L., Linneberg, A., Jarvelin, M.R., Noethen, M.M., Lau, S., Hübner, N., Lee, Y.A., Tamari, M., Hinds, D.A., Glass, D., Brown, S.J., Heinrich, J., Evans, D.M. and Weidinger, S.
Nature Genetics 47 (12): 1449-1456. December 2015

Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.
Fischer, U., Forster, M., Rinaldi, A., Risch, T., Sungalee, S., Warnatz, H.J., Bornhauser, B., Gombert, M., Kratsch, C., Stütz, A.M., Sultan, M., Tchinda, J., Worth, C.L., Amstislavskiy, V., Badarinarayan, N., Baruchel, A., Bartram, T., Basso, G., Canpolat, C., Cario, G., Cavé, H., Dakaj, D., Delorenzi, M., Dobay, M.P., Eckert, C., Ellinghaus, E., Eugster, S., Frismantas, V., Ginzel, S., Haas, O.A., Heidenreich, O., Hemmrich-Stanisak, G., Hezaveh, K., Höll, J.I., Hornhardt, S., Husemann, P., Kachroo, P., Kratz, C.P., Te Kronnie, G., Marovca, B., Niggli, F., McHardy, A.C., Moorman, A.V., Panzer-Grümayer, R., Petersen, B.S., Raeder, B., Ralser, M., Rosenstiel, P., Schäfer, D., Schrappe, M., Schreiber, S., Schütte, M., Stade, B., Thiele, R., von der Weid, N., Vora, A., Zaliova, M., Zhang, L., Zichner, T., Zimmermann, M., Lehrach, H., Borkhardt, A., Bourquin, J.P., Franke, A., Korbel, J.O., Stanulla, M. and Yaspo, M.L.
Nature Genetics 47 (9): 1020-1029. September 2015

Mutational dynamics between primary and relapse neuroblastomas.
Schramm, A., Köster, J., Assenov, Y., Althoff, K., Peifer, M., Mahlow, E., Odersky, A., Beisser, D., Ernst, C., Henssen, A.G., Stephan, H., Schröder, C., Heukamp, L., Engesser, A., Kahlert, Y., Theissen, J., Hero, B., Roels, F., Altmüller, J., Nürnberg, P., Astrahantseff, K., Gloeckner, C., De Preter, K., Plass, C., Lee, S., Lode, H.N., Henrich, K.O., Gartlgruber, M., Speleman, F., Schmezer, P., Westermann, F., Rahmann, S., Fischer, M., Eggert, A. and Schulte, J.H.
Nature Genetics 47 (8): 872-877. August 2015

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass, P.G., Aydin, A., Luft, F.C., Schächterle, C., Weise, A., Stricker, S., Lindschau, C., Vaegler, M., Qadri, F., Toka, H.R., Schulz, H., Krawitz, P.M., Parkhomchuk, D., Hecht, J., Hollfinger, I., Wefeld-Neuenfeld, Y., Bartels-Klein, E., Mühl, A., Kann, M., Schuster, H., Chitayat, D., Bialer, M.G., Wienker, T.F., Ott, J., Rittscher, K., Liehr, T., Jordan, J., Plessis, G., Tank, J., Mai, K., Naraghi, R., Hodge, R., Hopp, M., Hattenbach, L.O., Busjahn, A., Rauch, A., Vandeput, F., Gong, M., Rüschendorf, F., Hübner, N., Haller, H., Mundlos, S., Bilginturan, N., Movsesian, M.A., Klussmann, E., Toka, O. and Bähring, S.
Nature Genetics 47 (6): 647-653. June 2015

2014

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin, C.A., Ahmad, I., Klingseisen, A., Hussain, M.S., Bicknell, L.S., Leitch, A., Nürnberg, G., Toliat, M.R., Murray, J.E., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Keith, C., Harley, M.E., Heyn, P., Müller, R., Hoffmann, I., Cormier-Daire, V., Dollfus, H., Dupuis, L., Bashamboo, A., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A.T., Saggar, A., Schlechter, C., Weleber, R., Thiele, H., Altmüller, J., Höhne, W., Hurles, M.E., Noegel, A.A., Baig, S.M., Nürnberg, P. and Jackson, A.P.
Nature Genetics 46 (12): 1283-1292. December 2014

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J.R., de Kovel, C.G.F., Thiele, H., Konrad, K., Kawalia, A., Toliat, M.R., Sander, T., Rueschendorf, F., Caliebe, A., Nagel, I., Kohl, B., Kecskes, A., Jacmin, M., Hardies, K., Weckhuysen, S., Riesch, E., Dorn, T., Brilstra, E.H., Baulac, S., Moller, R.S., Hjalgrim, H., Koeleman, B.P.C., Jurkat-Rott, K., Lehman-Horn, F., Roach, J.C., Glusman, G., Hood, L., Galas, D.J., Martin, B., de Witte, P.A.M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nuernberg, P., Crawford, A.D., Esguerra, C.V., Weber, Y.G. and Lerche, H.
Nature Genetics 46 (12): 1327-1332. December 2014

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Lessel, D., Vaz, B., Halder, S., Lockhart, P.J., Marinovic-Terzic, I., Lopez-Mosqueda, J., Philipp, M., Sim, J.C.H., Smith, K.R., Oehler, J., Cabrera, E., Freire, R., Pope, K., Nahid, A., Norris, F., Leventer, R.J., Delatycki, M., Barbi, G., von Ameln, S., Högel, J., Degoricija, M., Fertig, R., Burkhalter, M.D., Hofmann, K., Thiele, H., Altmüller, J., Nürnberg, G., Nürnberg, P., Bahlo, M., Martin, G.M., Aalfs, C.M., Oshima, J., Terzic, J., Amor, D.J., Dikic, I., Ramadan, K. and Kubisch, C.
Nature Genetics 46 (11): 1239-1244. November 2014

Human somatic cell mutagenesis creates genetically tractable sarcomas.
Molyneux, S.D., Waterhouse, P.D., Shelton, D., Shao, Y.W., Watling, C.M., Tang, Q.L., Harris, I.S., Dickson, B.C., Tharmapalan, P., Sandve, G.K., Zhang, X., Bailey, S.D., Berman, H., Wunder, J.S., Izsvák, Z., Lupien, M., Mak, T.W. and Khokha, R.
Nature Genetics 46 (9): 964-972. September 2014

2013

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Nature Genetics 45 (11): 1353-1360. November 2013

A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold, E., Liebmann, L., Korenke, G.C., Heinrich, T., Giesselmann, S., Baets, J., Ebbinghaus, M., Goral, R.O., Stödberg, T., Hennings, J.C., Bergmann, M., Altmüller, J., Thiele, H., Wetzel, A., Nürnberg, P., Timmerman, Vi., De Jonghe, P., Blum, R., Schaible, H.G., Weis, J., Heinemann, S.H., Hübner, C.A. and Kurth, I.
Nature Genetics 45 (11): 1399-1404. November 2013

BMP signaling controls muscle mass.
Sartori, R., Schirwis, E., Blaauw, B., Bortolanza, S., Zhao, J., Enzo, E., Stantzou, A., Mouisel, E., Toniolo, L., Ferry, A., Stricker, S., Goldberg, A.L., Dupont, S., Piccolo, S., Amthor, H. and Sandri, M.
Nature Genetics 45 (11): 1309-1318. November 2013

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke, J.R., Lal, D., Reinthaler, E.M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., Laube, B., Schwake, M., Finsterwalder, K., Franke, A., Schilhabel, M., Jähn, J.A., Muhle, H., Boor, R., Van Paesschen, W., Caraballo, R., Fejerman, N., Weckhuysen, S., De Jonghe, P., Larsen, J., Møller, R.S., Hjalgrim, H., Addis, L., Tang, S., Hughes, E., Pal, D.K., Veri, K., Vaher, U., Talvik, T., Dimova, P., Guerrero López, R., Serratosa, J.M., Linnankivi, T., Lehesjoki, A.E., Ruf, S., Wolff, M., Buerki, S., Wohlrab, G., Kroell, J., Datta, A.N., Fiedler, B., Kurlemann, G., Kluger, G., Hahn, A., Haberlandt, D.E., Kutzer, C., Sperner, J., Becker, F., Weber, Y.G., Feucht, M., Steinböck, H., Neophythou, B., Ronen, G.M., Gruber-Sedlmayr, U., Geldner, J., Harvey, R.J., Hoffmann, P., Herms, S., Altmüller, J., Toliat, M.R., Thiele, H., Nürnberg, P., Wilhelm, C., Stephani, U., Helbig, I., Lerche, H., Zimprich, F., Neubauer, B.A., Biskup, S. and von Spiczak, S.
Nature Genetics 45 (9): 1067-1072. September 2013

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
Jones, D.T.W., Hutter, B., Jäger, N., Korshunov, A., Kool, M., Warnatz, H.J., Zichner, T., Lambert, S.R., Ryzhova, M., Quang, D.A.K., Fontebasso, A.M., Stütz, A.M., Hutter, S., Zuckermann, M., Sturm, D., Gronych, J., Lasitschka, B., Schmidt, S., Seker-Cin, H., Witt, H., Sultan, M., Ralser, M., Northcott, P.A., Hovestadt, V., Bender, S., Pfaff, E., Stark, S., Faury, D., Schwartzentruber, J., Majewski, J., Weber, U.D., Zapatka, M., Raeder, B., Schlesner, M., Worth, C.L., Bartholomae, C.C., von Kalle, C., Imbusch, C.D., Radomski, S., Lawerenz, C., van Sluis, P., Koster, J., Volckmann, R., Versteeg, R., Lehrach, H., Monoranu, C., Winkler, B., Unterberg, A., Herold-Mende, C., Milde, T., Kulozik, A.E., Ebinger, M., Schuhmann, M.U., Cho, Y.J., Pomeroy, S.L., von Deimling, A., Witt, O., Taylor, M.D., Wolf, S., Karajannis, M.A., Eberhart, C.G., Scheurlen, W., Hasselblatt, M., Ligon, K.L., Kieran, M.W., Korbel, J.O., Yaspo, M.L., Brors, B., Felsberg, J., Reifenberger, G., Collins, V.P., Jabado, N., Eils, R., Lichter, P. and Pfister, S.M.
Nature Genetics 45 (8): 927-932. August 2013

Combined sequence-based and genetic mapping analysis of complex traits in outbred rats.
Baud, A., Hermsen, R., Guryev, V., Stridh, P., Graham, D., McBride, M.W., Foroud, T., Calderari, S., Diez, M., Ockinger, J., Beyeen, A.D., Gillett, A., Abdelmagid, N., Guerreiro-Cacais, A.O., Jagodic, M., Tuncel, J., Norin, U., Beattie, E., Huynh, N., Miller, W.H., Koller, D.L., Alam, I., Falak, S., Osborne-Pellegrin, M., Martinez-Membrives, E., Canete, T., Blazquez, G., Vicens-Costa, E., Mont-Cardona, C., Diaz-Moran, S., Tobena, A., Hummel, O., Zelenika, D., Saar, K., Patone, G., Bauerfeind, A., Bihoreau, M.T., Heinig, M., Lee, Y.A., Rintisch, C., Schulz, H., Wheeler, D.A., Worley, K.C., Muzny, D.M., Gibbs, R.A., Lathrop, M., Lansu, N., Toonen, P., Ruzius, F.P., de Bruijn, E., Hauser, H., Adams, D.J., Keane, T., Atanur, S.S., Aitman, T.J., Flicek, P., Malinauskas, T., Jones, E.Y., Ekman, D., Lopez-Aumatell, R., Dominiczak, A.F., Johannesson, M., Holmdahl, R., Olsson, T., Gauguier, D., Hubner, N., Fernandez-Teruel, A., Cuppen, E., Mott, R. and Flint, J.
Nature Genetics 45 (7): 767-775. July 2013

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis.
Ellinghaus, D., Baurecht, H., Esparza-Gordillo, J., Rodríguez, E., Matanovic, A., Marenholz, I., Hübner, N., Schaarschmidt, H., Novak, N., Michel, S., Maintz, L., Werfel, T., Meyer-Hoffert, U., Hotze, M., Prokisch, H., Heim, K., Herder, C., Hirota, T., Tamari, M., Kubo, M., Takahashi, A., Nakamura, Y., Tsoi, L.C., Stuart, P., Elder, J.T., Sun, L., Zuo, X., Yang, S., Zhang, X., Hoffmann, P., Nöthen, M.M., Fölster-Holst, R., Winkelmann, J., Illig, T., Boehm, B.O., Duerr, R.H., Büning, C., Brandt, S., Glas, J., McAleer, M.A., Fahy, C.M., Kabesch, M., Brown, S., McLean, W.H.I., Irvine, A.D., Schreiber, S., Lee, Y.A., Franke, A. and Weidinger, S.
Nature Genetics 45 (7): 808-812. July 2013

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire, M., Frémeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W.H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J.D., Mane, S.M., Nürnberg, G., Altmüller, J., Thiele, H., Morin, D., Deschenes, G., Baudouin, V., Llanas, B., Collard, L., Majid, M.A., Simkova, E., Nürnberg, P., Rioux-Leclerc, N., Moeckel, G.W., Gubler, M.C., Hwa, J., Loirat, C. and Lifton, R.P.
Nature Genetics 45 (5): 531-536. May 2013

FaST-LMM-Select for addressing confounding from spatial structure and rare variants.
Listgarten, J., Lippert, C. and Heckerman, D.
Nature Genetics 45 (5): 470-471. May 2013

2012

Tissue-specific analysis of chromatin state identifies temporal signatures of enhancer activity during embryonic development.
Bonn, S., Zinzen, R.P., Girardot, C., Gustafson, E.H., Perez-Gonzalez, A., Delhomme, N., Ghavi-Helm, Y., Wilczynski, B., Riddell, A. and Furlong, E.E.
Nature Genetics 44 (2): 148-156. February 2012

2011

Whole-genome sequencing of multiple Arabidopsis thaliana populations.
Cao, J., Schneeberger, K., Ossowski, S., Guenther, T., Bender, S., Fitz, J., Koenig, D., Lanz, C., Stegle, O., Lippert, C., Wang, X., Ott, F., Mueller, J., Alonso-Blanco, C., Borgwardt, K., Schmid, K.J. and Weigel, D.
Nature Genetics 43 (10): 956-963. 28 August 2011

2010

No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.
Niemeyer, M.I., Cid, L.P., Sepulveda, F.V., Blanz, J., Auberson, M. and Jentsch, T.J.
Nature Genetics 42 (1): 3. January 2010

2009

Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis.
Lu, B.C., Cebrian, C., Chi, X., Kuure, S., Kuo, R., Bates, C.M., Arber, S., Hassell, J., Macneil, L., Hoshi, M., Jain, S., Asai, N., Takahashi, M., Schmidt-Ott, K.M., Barasch, J., D'Agati, V. and Costantini, F.
Nature Genetics 41 (12): 1295-1302. December 2009

DNA methylation protects hematopoietic stem cell multipotency from myeloerythroid restriction.
Broeske, A.M., Vockentanz, L., Kharazi, S., Huska, M.R., Mancini, E., Scheller, M., Kuhl, C., Enns, A., Prinz, M., Jaenisch, R., Nerlov, C., Leutz, A., Andrade-Navarro, M.A., Jacobsen, S.E. and Rosenbauer, F.
Nature Genetics 41 (11): 1207-1215. November 2009

CLCN2 variants in idiopathic generalized epilepsy.
Kleefuss-Lie, A., Friedl, W., Cichon, S., Haug, K., Warnstedt, M., Alekov, A., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., Dullinger, J.S., Rau, B., Haverkamp, F., Beyenburg, S., Schulz, H., Janz, D., Giese, B., Muller-Newen, G., Propping, P., Elger, C.E., Fahlke, C. and Lerche, H.
Nature Genetics 41 (9): 954-955. September 2009

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke, M., Diekmann, S., Ohlenbusch, A., Kaiser, J., Engelbrecht, V., Kohlschuetter, A., Kraetzner, R., Madruga-Garrido, M., Mayer, M., Opitz, L., Rodriguez, D., Rueschendorf, F., Schumacher, J., Thiele, H., Thoms, S., Steinfeld, R., Nuernberg, P. and Gaertner, J.
Nature Genetics 41 (7): 773-775. July 2009

Molecular evolution of a novel hyperactive Sleeping Beauty transposase enables robust stable gene transfer in vertebrates.
Mates, L., Chuah, M.K., Belay, E., Jerchow, B., Manoj, N., Acosta-Sanchez, A., Grzela, D.P., Schmitt, A., Becker, K., Matrai, J., Ma, L., Samara-Kuko, E., Gysemans, C., Pryputniewicz, D., Miskey, C., Fletcher, B., Vandendriessche, T., Ivics, Z. and Izsvak, Z.
Nature Genetics 41 (6): 753-761. June 2009

A common variant on chromosome 11q13 is associated with atopic dermatitis.
Esparza-Gordillo, J., Weidinger, S., Foelster-Holst, R., Bauerfeind, A., Rueschendorf, F., Patone, G., Rohde, K., Marenholz, I., Schulz, F., Kerscher, T., Huebner, N., Wahn, U., Schreiber, S., Franke, A., Vogler, R., Heath, S., Baurecht, H., Novak, N., Rodriguez, E., Illig, T., Lee-Kirsch, M.A., Ciechanowicz, A., Kurek, M., Piskackova, T., Macek, M., Lee, Y.A. and Ruether, A.
Nature Genetics 41 (5): 596-601. May 2009

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.
Suzuki, H, Forrest, ARR, van Nimwegen, E, Daub, CO, Balwierz, PJ, Irvine, KM, Lassmann, T, Ravasi, T, Hasegawa, Y, de Hoon, MJL, Katayama, S, Schroder, K, Carninci, P, Tomaru, Y, Kanamori-Katayama, M, Kubosaki, A, Akalin, A., Ando, Y, Arner, E, Asada, M, Asahara, H, Bailey, T, Bajic, VB, Bauer, D, Beckhouse, AG, Bertin, N, Björkegren, J, Brombacher, F, Bulger, E, Chalk, AM, Chiba, J, Cloonan, N, Dawe, A, Dostie, J, Engstroem, PG, Essack, M, Faulkner, GJ, Fink, JL, Fredman, D, Fujimori, K, Furuno, M, Gojobori, T, Gough, J, Grimmond, SM, Gustafsson, M, Hashimoto, M, Hashimoto, T, Hatakeyama, M, Heinzel, S, Hide, W, Hofmann, O, Hörnquist, M, Huminiecki, L, Ikeo, K, Imamoto, N, Inoue, S, Inoue, Y, Ishihara, R, Iwayanagi, T, Jacobsen, A, Kaur, M, Kawaji, H, Kerr, MC, Kimura, R, Kimura, S, Kimura, Y, Kitano, H, Koga, H, Kojima, T, Kondo, S, Konno, T, Krogh, A, Kruger, A, Kumar, A, Lenhard, B, Lennartsson, A, Lindow, M, Lizio, M, Macpherson, C, Maeda, N, Maher, CA, Maqungo, M, Mar, J, Matigian, NA, Matsuda, H, Mattick, JS, Meier, S, Miyamoto, S, Miyamoto-Sato, E, Nakabayashi, K, Nakachi, Y, Nakano, M, Nygaard, S, Okayama, T, Okazaki, Y, Okuda-Yabukami, H, Orlando, V, Otomo, J, Pachkov, M, Petrovsky, N, Plessy, C, Quackenbush, J, Radovanovic, A, Rehli, M, Saito, R, Sandelin, A, Schmeier, S, Schönbach, C, Schwartz, AS, Semple, CA, Sera, M, Severin, J, Shirahige, K, Simons, C, St Laurent, G, Suzuki, M, Suzuki, T, Sweet, MJ, Taft, RJ, Takeda, S, Takenaka, Y, Tan, K, Taylor, MS, Teasdale, RD, Tegnér, J, Teichmann, S, Valen, E, Wahlestedt, C, Waki, K, Waterhouse, A, Wells, CA, Winther, O, Wu, L, Yamaguchi, K, Yanagawa, H, Yasuda, J, Zavolan, M, Hume, DA, Arakawa, T, Fukuda, S, Imamura, K, Kai, C, Kaiho, A, Kawashima, T, Kawazu, C, Kitazume, Y, Kojima, M, Miura, H, Murakami, K, Murata, M, Ninomiya, N, Nishiyori, H, Noma, S, Ogawa, C, Sano, T, Simon, C, Tagami, M, Takahashi, Y, Kawai, J and Hayashizaki, Y
Nature Genetics 41 (5): 553-562. May 2009

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig, I., Mefford, H.C., Sharp, A.J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., Kron, K.L., Steinich, I., Kleefuss-Lie, A.A., Leu, C., Gaus, V., Schmitz, B., Klein, K.M., Reif, P.S., Rosenow, F., Weber, Y., Lerche, H., Zimprich, F., Urak, L., Fuchs, K., Feucht, M., Genton, P., Thomas, P., Visscher, F., de Haan, G.J., Moller, R.S., Hjalgrim, H., Luciano, D., Wittig, M., Nothnagel, M., Elger, C.E., Nuernberg, P., Romano, C., Malafosse, A., Koeleman, B.P.C., Lindhout, D., Stephani, U., Schreiber, S., Eichler, E.E. and Sander, T.
Nature Genetics 41 (2): 160-162. February 2009

2008

The Pristionchus pacificus genome provides a unique perspective on nematode lifestyle and parasitism.
Dieterich, C., Clifton, S.W., Schuster, L.N., Chinwalla, A., Delehaunty, K., Dinkelacker, I., Fulton, L., Fulton, R., Godfrey, J., Minx, P., Mitreva, M., Roeseler, W., Tian, H., Witte, H., Yang, S.P., Wilson, R.K. and Sommer, R.J.
Nature Genetics 40 (10): 1193-1198. October 2008

Identification of renal Cd36 as a determinant of blood pressure and risk for hypertension.
Pravenec, M., Churchill, P.C., Churchill, M.C., Viklicky, O., Kazdova, L., Aitman, T.J., Petretto, E., Huebner, N., Wallace, C.A., Zimdahl, H., Zidek, V., Landa, V., Dunbar, J., Bidani, A., Griffin, K., Qi, N., Maxova, M., Kren, V., Mlejnek, P., Wang, J. and Kurtz, T.W.
Nature Genetics 40 (8): 952-954. August 2008

Progress and prospects in rat genetics: a community view.
Aitman, T.J., Critser, J.K., Cuppen, E., Dominiczak, A., Fernandez-Suarez, X.M., Flint, J., Gauguier, D., Geurts, A.M., Gould, M., Harris, P.C., Holmdahl, R., Huebner, N., Izsvak, Z., Jacob, H.J., Kuramoto, T., Kwitek, A.E., Marrone, A., Mashimo, T., Moreno, C., Mullins, J., Mullins, L., Olsson, T., Pravenec, M., Riley, L., Saar, K., Serikawa, T., Shull, J.D., Szpirer, C., Twigger, S.N., Voigt, B. and Worley, K.C.
Nature Genetics 40 (5): 516-22. May 2008

Distribution and functional impact of DNA copy number variation in the rat.
Guryev, V., Saar, K., Adamovic, T., Verheul, M., van Heesch, S., Cook, S., Pravenec, M., Aitman, T., Jacob, H., Shull, J.D., Huebner, N. and Cuppen, E.
Nature Genetics 40 (5): 538-545. May 2008

Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease.
Monti, J., Fischer, J., Paskas, S., Heinig, M., Schulz, H., Goesele, C., Heuser, A., Fischer, R., Schmidt, C., Schirdewan, A., Gross, V., Hummel, O., Maatz, H., Patone, G., Saar, K., Vingron, M., Weldon, S.M., Lindpaintner, K., Hammock, B.D., Rohde, K., Dietz, R., Cook, S.A., Schunck, W.H., Luft, F.C. and Huebner, N.
Nature Genetics 40 (5): 529-537. May 2008

Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass.
Petretto, E., Sarwar, R., Grieve, I., Lu, H., Kumaran, M.K., Muckett, P.J., Mangion, J., Schroen, B., Benson, M., Punjabi, P.P., Prasad, S.K., Pennell, D.J., Kiesewetter, C., Tasheva, E.S., Corpuz, L.M., Webb, M.D., Conrad, G.W., Kurtz, T.W., Kren, V., Fischer, J., Huebner, N., Pinto, Y.M., Pravenec, M., Aitman, T.J. and Cook, S.A.
Nature Genetics 40 (5): 546-552. May 2008

SNP and haplotype mapping for genetic analysis in the rat.
Saar, K., Beck, A., Bihoreau, M.T., Birney, E., Brocklebank, D., Chen, Y., Cuppen, E., Demonchy, S., Dopazo, J., Flicek, P., Foglio, M., Fujiyama, A., Gut, I.G., Gauguier, D., Guigo, R., Guryev, V., Heinig, M., Hummel, O., Jahn, N., Klages, S., Kren, V., Kube, M., Kuhl, H., Kuramoto, T., Kuroki, Y., Lechner, D., Lee, Y.A., Lopez-Bigas, N., Lathrop, G.M., Mashimo, T., Medina, I., Mott, R., Patone, G., Perrier-Cornet, J.A., Platzer, M., Pravenec, M., Reinhardt, R., Sakaki, Y., Schilhabel, M., Schulz, H., Serikawa, T., Shikhagaie, M., Tatsumoto, S., Taudien, S., Toyoda, A., Voigt, B., Zelenika, D., Zimdahl, H. and Huebner, N.
Nature Genetics 40 (5): 560-566. May 2008

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
Pasternack, S.M., von Kuegelgen, I., Aboud, K.A., Lee, Y.A., Rueschendorf, F., Voss, K., Hillmer, A.M., Molderings, G.J., Franz, T., Ramirez, A., Nuernberg, P., Noethen, M.M. and Betz, R.C.
Nature Genetics 40 (3): 329-334. March 2008

2007

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
Lee-Kirsch, M.A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.A., de Silva, U., Bailey, S.L., Witte, T., Vyse, T.J., Kere, J., Pfeiffer, C., Harvey, S., Wong, A., Koskenmies, S., Hummel, O., Rohde, K., Schmidt, R.E., Dominiczak, A.F., Gahr, M., Hollis, T., Perrino, F.W., Lieberman, J. and Huebner, N.
Nature Genetics 39 (9): 1065-1067. September 2007

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
Rogaeva, E., Meng, Y., Lee, J.H., Gu, Y., Kawarai, T., Zou, F., Katayama, T., Baldwin, C.T., Cheng, R., Hasegawa, H., Chen, F., Shibata, N., Lunetta, K.L., Pardossi-Piquard, R., Bohm, C., Wakutani, Y., Cupples, L.A., Cuenco, K.T., Green, R.C., Pinessi, L., Rainero, I., Sorbi, S., Bruni, A., Duara, R., Friedland, R.P., Inzelberg, R., Hampe, W., Bujo, H., Song, Y.Q., Andersen, O.M., Willnow, T.E., Graff-Radford, N., Petersen, R.C., Dickson, D., Der, S.D., Fraser, P.E., Schmitt-Ulms, G., Younkin, S., Mayeux, R., Farrer, L.A. and St George-Hyslop, P.
Nature Genetics 39 (2): 168-177. February 2007

2006

Natural selection on human microRNA binding sites inferred from SNP data.
Chen, K. and Rajewsky, N.
Nature Genetics 38 (12): 1452-1456. 1 December 2006

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes, B., Wiggins, R.C., Gbadegesin, R., Vlangos, C.N., Seelow, D., Nuernberg, G., Garg, P., Verma, R., Chaib, H., Hoskins, B.E., Ashraf, S., Becker, C., Hennies, H.C., Goyal, M., Wharram, B.L., Schachter, A.D., Mudumana, S., Drummond, I., Kerjaschki, D., Waldherr, R., Dietrich, A., Ozaltin, F., Bakkaloglu, A., Cleper, R., Basel-Vanagaite, L., Pohl, M., Griebel, M., Tsygin, A.N., Soylu, A., Mueller, D., Sorli, C.S., Bunney, T.D., Katan, M., Liu, J., Attanasio, M., O'Toole, J.F., Hasselbacher, K., Mucha, B., Otto, E.A., Airik, R., Kispert, A., Kelley, G.G., Smrcka, A.V., Gudermann, T., Holzman, L.B., Nuernberg, P. and Hildebrandt, F.
Nature Genetics 38 (12): 1397-1405. December 2006

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Blaydon, D.C., Ishii, Y., O'Toole, E.A., Unsworth, H.C., Teh, M.T., Rueschendorf, F., Sinclair, C., Hopsu-Havu, V.K., Tidman, N., Moss, C., Watson, R., de Berker, D., Wajid, M., Christiano, A.M. and Kelsell, D.P.
Nature Genetics 38 (11): 1245-1247. November 2006

Essential role of Jun family transcription factors in PU.1 knockdown-induced leukemic stem cells.
Steidl, U., Rosenbauer, F., Verhaak, R.G.W., Gu, X., Ebralidze, A., Otu, H.H., Klippel, S., Steidl, C., Bruns, I., Costa, D.B., Wagner, K., Aivado, M., Kobbe, G., Valk, P.J.M., Passegue, E., Libermann, T.A., Delwel, R. and Tenen, D.G.
Nature Genetics 38 (11): 1269-1277. November 2006

Reply to "Normalization procedures and detection of linkage signal in genetical-genomics experiments".
Petretto, E., Mangion, J., Cook, S.A., Aitman, T.J., Pravenec, M., Schulz, H., Fischer, J. and Hubner, N.
Nature Genetics 38 (8): 858-859. August 2006

microRNA target predictions in animals.
Rajewsky, N.
Nature Genetics 38 (Suppl.): S8-S13. June 2006

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer, J.A., Otto, E.A., O'toole, J.F., Nuernberg, G., Kennedy, M.A., Becker, C., Hennies, H.C., Helou, J., Attanasio, M., Fausett, B.V., Utsch, B., Khanna, H., Liu, Y., Drummond, I., Kawakami, I., Kusakabe, T., Tsuda, M., Ma, L., Lee, H., Larson, R.G., Allen, S.J., Wilkinson, C.J., Nigg, E.A., Shou, C., Lillo, C., Williams, D.S., Hoppe, B., Kemper, M.J., Neuhaus, T., Parisi, M.A., Glass, I.A., Petry, M., Kispert, A., Gloy, J., Ganner, A., Walz, G., Zhu, X., Goldman, D., Nuernberg, P., Swaroop, A., Leroux, M.R. and Hildebrandt, F.
Nature Genetics 38 : 674-681. June 2006

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
Witt, H., Sahin-Toth, M., Landt, O., Chen, J.M., Kaehne, T., Drenth, J.P., Kukor, Z., Szepessy, E., Halangk, W., Dahm, S., Rohde, K., Schulz, H.U., Le Marechal, C., Akar, N., Ammann, R.W., Truninger, K., Bargetzi, M., Bhatia, E., Castellani, C., Cavestro, G.M., Cerny, M., Destro-Bisol, G., Spedini, G., Eiberg, H., Jansen, J.B., Koudova, M., Rausova, E., Macek, M., Malats, N., Real, F.X., Menzel, H.J., Moral, P., Galavotti, R., Pignatti, P.F., Rickards, O., Spicak, J., Zarnescu, N.O., Boeck, W., Gress, T.M., Friess, H., Ockenga, J., Schmidt, H., Pfuetzer, R., Loehr, M., Simon, P., Weiss, F.U., Lerch, M.M., Teich, N., Keim, V., Berg, T., Wiedenmann, B., Luck, W., Groneberg, D.A., Becker, M., Keil, T., Kage, A., Bernardova, J., Braun, M., Gueldner, C., Halangk, J., Rosendahl, J., Witt, U., Treiber, M., Nickel, R. and Ferec, C.
Nature Genetics 38 (6): 668-673. June 2006

Mutations in different components of FGF signaling in LADD syndrome [Erratum in: Nat Genet. vol 38, pg 495, 2006].
Rohmann, E., Brunner, H.G., Kayserili, H., Uyguner, O., Nuernberg, G., Lew, E.D., Dobbie, A., Eswarakumar, V.P., Uzumcu, A., Ulubil-Emeroglu, M., Leroy, J.G., Li, Y., Becker, C., Lehnerdt, K., Cremers, C.W., Yueksel-Apak, M., Nuernberg, P., Kubisch, C., Schlessinger, J., van Bokhoven, H. and Wollnik, B.
Nature Genetics 38 : 414-417. April 2006

Expressing physiology.
Hubner, N.
Nature Genetics 38 (2): 140-141. February 2006

Lymphoid cell growth and transformation are suppressed by a key regulatory element of the gene encoding PU.1.
Rosenbauer, F., Owens, B.M., Yu, L., Tumang, J.R., Steidl, U., Kutok, J.L., Clayton, L.K., Wagner, K., Scheller, M., Iwasaki, H., Liu, C., Hackanson, B., Akashi, K., Leutz, A., Rothstein, T.L., Plass, C. and Tenen, D.G.
Nature Genetics 38 (1): 27-37. January 2006

2005

Combinatorial microRNA target predictions.
Krek, A., Grün, D., Poy, M.N., Wolf, R., Rosenberg, L., Epstein, E.J., MacMenamin, P., da Piedade, I., Gunsalus, K.C., Stoffel, M. and Rajewsky, N.
Nature Genetics 37 (5): 495-500. May 2005

Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease.
Hubner, N., Wallace, C.A., Zimdahl, H., Petretto, E., Schulz, H., Maciver, F., Mueller, M., Hummel, O., Monti, J., Zidek, V., Musilova, A., Kren, V., Causton, H., Game, L., Born, G., Schmidt, S., Mueller, A., Cook, S.A., Kurtz, T.W., Whittaker, J., Pravenec, M. and Aitman, T.J.
Nature Genetics 37 (3): 243-253. 1 March 2005

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Metherell, L.A., Chapple, J.P., Cooray, S., David, A., Becker, C., Rueschendorf, F., Naville, D., Begeot, M., Khoo, B., Nuernberg, P., Huebner, A., Cheetham, M.E. and Clark, A.J.L.
Nature Genetics 37 (2): 166-170. 1 January 2005

2004

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C.T., McDermott, D.A., Lerman, B.B., Markowitz, S.M., Ellinor, P.T., MacRae, C.A., Peters, S., Grossmann, K.S., Drenckhahn, J., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E. and Thierfelder, L.
Nature Genetics 36 (11): 1162-1164. November 2004

Acute myeloid leukemia induced by graded reduction of a lineage-specific transcription factor, PU.1.
Rosenbauer, F., Wagner, K., Kutok, J.L., Iwasaki, H., Le Beau, M.M., Okuno, Y., Akashi, K., Fiering, S. and Tenen, D.G.
Nature Genetics 36 : 624-630. 1 June 2004

The Collaborative Cross, a community resource for the genetic analysis of complex traits.
Churchill, G., Airey, D.C., Allayee, H., Angel, J.M., Attie, A.D., Beatty, J., Beavis, W.D., Belknap, J.K., Bennett, B., Berrettini, W., Bleich, A., Bogue, M., Broman, K.W., Buck, K.J., Buckler, E., Burmeister, M., Chesler, E.J., Cheverud, J.M., Clapcote, S., Cook, M.N., Cox, R.D., Crabbe, J.C., Crusio, W.E., Darvasi, A., Deschnepper, C.F., Doerge, R.W., Farber, C.R., Forejt, J., Gaile, D., Garlow, S.J., Geiger, H., Gershenfeld, H., Gordon, T., Gu, J., Gu, W.K., de Haan, G., Hayes, N.L., Heller, C., Himmelbauer, H., Hitzemann, R., Hunter, K., Hsu, H.C., Iraqi, F.A., Ivandic, B., Jacob, H.J., Jansen, R.C., Jjepsen, K.J., Johnson, D.K., Johnson, T.E., Kempermann, G., Kendziorski, C., Kotb, M., Kooy, R.F., Llamas, B., Lammert, F., Lassalle, J.M., Lowenstein, P.R., Lu, L., Lusiss, A., Manly, K.F., Marcucio, R., Matthews, D., Medrano, J.F., Miller, D.R., Mittleman, G., Mock, B.A., Mogil, J.S., Montagutelli, X., Morahan, G., Morris, D.G., Mott, R., Nadeau, J.H., Nagase, H., Nowakowski, R.S., O'Hara, B.F., Osadchuk, A.V., Page, G.P., Paigen, B., Paigen, K., Palmer, A.A., Pan, H.J., Peltonen-Palotie, L., Peirce, J., Pomp, D., Pravenec, M., Prows, D.R., Qi, Z.H., Reeves, R.H., Roder, J., Rosen, G.D., Schadt, E.E., Schalkwyk, L.C., Seltzer, Z., Shimomura, K., Shou, S.M., Sillanpaeae, M.J., Siracusa, L.D., Snoeck, H.W., Spearow, J.L., Svenson, K., Tarantino, L.M., Threadgill, D., Toth, L.A., Valdar, W., de Villena, F.P.M., Warden, C., Whatley, S., Williams, R.W., Wiltshire, T., Yi, N.J., Zhang, D.B., Zhang, M. and Zou, F.
Nature Genetics 36 : 1133-1137. 1 January 2004

Estimating rates of alternative splicing in mammals and invertebrates.
Harrington, E.D., Boue, S., Valcarcel, J., Reich, J.G. and Bork, P.
Nature Genetics 36 (9): 916-917. 1 January 2004

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Janecke, A.R., Thompson, D.A., Utermann, G., Becker, C., Huebner, C.A., Schmid, E., McHenry, C.L., Nair, A.R., Rueschendorf, F., Heckenlively, J., Wissinger, B., Nuernberg, P. and Gal, A.
Nature Genetics 36 (8): 850-854. 1 January 2004

2003

RETRACTED: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Haug, K., Warnstedt, M., Alekov, A.K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., Dullinger, J.S., Rau, B., Haverkamp, F., Beyenburg, S., Schulz, H., Janz, D., Giese, B., Mueller-Newen, G., Propping, P., Elger, C.E., Fahlke, C., Lerche, H. and Heils, A.
Nature Genetics 33 : 527-532. 1 April 2003

Bioinformatics in the post-sequence era.
Kanehisa, M. and Bork, P.
Nature Genetics 33 : 305-310. 1 January 2003

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch, F., Ruf, N., Vaingankar, S., Toliat, M.R., Suk, A., Hoehne, W., Schauer, G., Lehmann, M., Roscioli, T., Schnabel, D., Epplen, J.T., Knisely, A., Superti-Furga, A., McGill, J., Filippone, M., Sinaiko, A.R., Vallance, H., Hinrichs, B., Smith, W., Ferre, M., Terkeltaub, R. and Nuernberg, P.
Nature Genetics 34 (4): 379-381. 1 January 2003

2002

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F.D., Patton, M.A., McKusick, V.A. and Crosby, A.H.
Nature Genetics 31 : 347-348. 1 August 2002

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly).
Hoffmann, K., Dreger, C.K., Olins, A.L., Olins, D.E., Shultz, L.D., Lucke, B., Karl, H., Kaps, R., Mueller, D., Vaya, A., Aznar, J., Ware, R.E., Cruz, N.S., Lindner, T.H., Herrmann, H., Reis, A. and Sperling, K.
Nature Genetics 31 (4): 410-414. August 2002

Association of genes to genetically inherited diseases using data mining.
Perez-Iratxeta, C., Bork, P. and Andrade, M.A.
Nature Genetics 31 (3): 316-319. July 2002

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull, B., Gramlich, M., Atherton, J., McNabb, M., Trombitas, K., Sasse-Klaassen, S., Seidman, J.G., Seidman, C., Granzier, H., Labeit, S., Frenneaux, M. and Thierfelder, L.
Nature Genetics 30 (2): 201-204. February 2002

Alternative splicing and genome complexity.
Brett, D., Pospisil, H., Valcarel, J., Reich, J. and Bork, P.
Nature Genetics 30 (1): 29-30. 1 January 2002

A comprehensive linkage analysis for myocardial infarction and its related risk factors.
Broeckel, U., Hengstenberg, C., Mayer, B., Holmer, S., Martin, L.J., Comuzzie, A.G., Blangero, J., Nuernberg, P., Reis, A., Riegger, G.A.J., Jacob, H.J. and Schunkert, H.
Nature Genetics 30 : 210-214. 1 January 2002

2001

Sox9 induces testis development in XX transgenic mice.
Vidal, V.P.I., Chaboissier, M.C., de Rooij, D.G. and Schedl, A.
Nature Genetics 28 (3): 216-217. 1 July 2001

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Betz, R.C., Schoser, B.G.H., Kasper, D., Ricker, K., Ramirez, A., Stein, V., Torbergsen, T., Lee, Y.A., Nothen, M.M., Wienker, T.F., Malin, J.P., Propping, P., Reis, A., Mortier, W., Jentsch, T.J., Vorgerd, M. and Kubisch, C.
Nature Genetics 28 (3): 218-219. July 2001

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann, K., Schuelke, M., Diers, A., Hoffmann, K., Lucke, B., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Ouvrier, R., Pfeufer, A., Rossi, R., Van Maldergem, L., Wilmshurst, J.M., Wienker, T.R., Sendtner, M., Rudnik-Schoeneborn, S., Zerres, K. and Huebner, C.
Nature Genetics 29 (1): 75-77. 1 January 2001

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nuernberg, P., Thiele, H., Chandler, D., Hoehne, W., Cunningham, M.L., Ritter, H., Leschik, G., Uhlmann, K., Mischung, C., Harrop, K., Goldblatt, J., Borochowitz, Z.U., Kotzot, D., Westermann, F., Mundlos, S., Braun, H.S., Laing, N. and Tinschert, S.
Nature Genetics 28 (1): 37-41. 1 January 2001

2000

A region on chromosome 3 is linked to dizygotic twinning.
Busjahn, A., Knoblauch, H., Faulhaber, H.D., Aydin, A., Uhlmann, R., Tuomilehto, J., Kaprio, J., Jedrusik, P., Januszewicz, A., Strelau, J., Schuster, H., Luft, F.C. and Mueller-Myhsok, B.
Nature Genetics 26 (4): 398-399. 1 December 2000

A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.
Lee, Y.A., Wahn, U., Kehrt, R., Tarani, L., Businco, L., Gustafsson, D., Andersson, F., Oranje, A.P., Wolkertstorfer, A., von Berg, A., Hoffmann, U., Kuester, W., Wienker, T.F., Rueschendorf, F. and Reis, A.
Nature Genetics 26 : 470-473. 1 December 2000

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Alexander, C., Votruba, M., Pesch, U.E., Thiselton, D.L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S.S. and Wissinger, B.
Nature Genetics 26 : 211-215. 1 October 2000

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
de Angelis, M.H., Flaswinkel, H., Fuchs, H., Rathkolb, B., Soewarto, D., Marschall, S., Heffner, S., Pargent, W., Wuensch, K., Jung, M., Reis, A., Richter, T., Alessandrini, F., Jakob, T., Fuchs, E., Kolb, H., Kremmer, E., Schaeble, K., Rollinski, B., Roscher, A., Peters, C., Meitinger, T., Strom, T., Steckler, T., Holsboer, F., Klopstock, T., Gekeler, F., Schindewolf, C., Jung, T., Avraham, K., Behrendt, H., Ring, J., Zimmer, A., Schughart, K., Pfeffer, K., Wolf, E. and Balling, R.
Nature Genetics 25 : 444-447. 1 August 2000

More than 1,000 putative new human signalling proteins revealed by EST data mining.
Schultz, J., Doerks, T., Ponting, C.P., Copley, R.R. and Bork, P.
Nature Genetics 25 (2): 201-204. 1 June 2000

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
Witt, H., Luck, W., Hennies, H.C., Classen, M., Kage, A., Lass, U., Landt, O. and Becker, M.
Nature Genetics 25 (2): 213-216. 1 June 2000

Somatic integration and long-term transgene expression in normal and haemophilic mice using a DNA transposon system.
Yant, S.R., Meuse, L., Chiu, W., Ivics, Z., Izsvak, Z. and Kay, M.A.
Nature Genetics 25 (1): 35-41. 1 May 2000

1999

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
Bittner, R.E., Anderson, L.V.B., Burkhardt, E., Bashir, R., Vafiadaki, E., Ivanova, S., Raffelsberger, T., Maerk, I., Hoeger, H., Jung, M., Karbasiyan, M., Storch, M., Lassmann, H., Moss, J.A., Davison, K., Harrison, R., Bushby, K.M.D. and Reis, A.
Nature Genetics 23 : 141-142. 1 October 1999

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak, K.J., Wattanasirichaigoon, D., Goebel, H.H., Wilce, M., Pelin, K., Donner, K., Jacob, R.L., Huebner, C., Oexle, K., Anderson, J.R., Verity, C.M., North, K.N., Iannaccone, S.T., Mueller, C.R., Nuernberg, P., Muntoni, F., Sewry, C., Hughes, I., Sutphen, R., Lacson, A.G., Swoboda, K.J., Vigneron, J., Wallgren-Pettersson, C., Beggs, A.H. and Laing, N.G.
Nature Genetics 23 : 208-212. 1 October 1999

A point of entry into genomics.
Bork, P. and Huynen, M.
Nature Genetics 23 : 273-273. 1 January 1999

Genome phylogeny based on gene content.
Snel, B., Bork, P. and Huynen, M.A.
Nature Genetics 21 : 108-110. 1 January 1999

1998

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta 1 subunit gene SCN1B.
Wallace, R.H., Wang, D.W., Singh, R., Scheffer, I.E., George, A.L., Phillips, H.A., Saar, K., Reis, A., Johnson, E.W., Sutherland, G.R., Berkovic, S.F. and Mulley, J.C.
Nature Genetics 19 (4): 366-370. 1 August 1998

Predicting functions from protein sequences - where are the bottlenecks?
Bork, P. and Koonin, E.V.
Nature Genetics 18 : 313-318. 1 January 1998

1997

Cholesterol, hedgehog and embryogenesis.
Herz, J., Willnow, T.E. and Farese, R.V.
Nature Genetics 15 (2): 123-124. February 1997

1996

BRCA1 protein products ... Functional motifs...
Koonin, E.V., Altschul, S.F. and Bork, P.
Nature Genetics 13 (3): 266-268. 1 July 1996

Ectopic expression of thyrotropin releasing hormone (TRH) receptors in liver modulates organ function to regulate blood glucose by TRH.
Wolff, G., Mastrangeli, A., Heinflink, M., Falck-Pedersen, E., Gershengorn, M.C. and Crystal, R.G.
Nature Genetics 12 (3): 274-279. March 1996

Internal repeats in the BRCA2 protein sequence.
Bork, P., Blomberg, N. and Nilges, M.
Nature Genetics 13 : 22-23. 1 January 1996

Identification and mutation analysis of the complete gene for the Chediak-Higashi syndrome.
Nagle, D.L., Karim, M., Woolf, E.A., Holmgren, L., Bork, P., Misumi, D., McGrail, D., Dussault, J.R., Duyk, G., Spritz, R.A. and Moore, K.J.
Nature Genetics 14 : 307-312. 1 January 1996

Chromosomal mapping of quantitative trait loci contributing to stroke in a rat model of complex human disease.
Rubattu, S., Volpe, M., Kreutz, R., Ganten, U., Ganten, D. and Lindpaintner, K.
Nature Genetics 13 : 429-434. 1 January 1996

Severe autosomal dominant hypertension and brachydactyly in a unique turkish kindred maps to human chromosome 12.
Schuster, H., Wienker, T.F., Bähring, S., Bilginturan, N., Toka, H.R., Neitzel, H., Jeschke, E., Toka, O., Gilbert, D., Lowe, A., Ott, J., Haller, H. and Luft, F.C.
Nature Genetics 13 (1): 98-100. 1 January 1996

1995

Mutations in the cardiac myosin binding protein-c gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
Watkins, H., Conner, D., Thierfelder, L.H., Jarcho, J.A., MacRae, C., McKenna, W.J., Maron, B.J., Seidman, J.G. and Seidman, C.E.
Nature Genetics 11 (4): 434-437. 1 December 1995

Heat repeats in Huntington's disease protein.
Andrade, M.A. and Bork, P.
Nature Genetics 11 (2): 115-116. 1 October 1995

1994

The origin of the major cystic fibrosis mutation (delta F508) in European populations.
Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Gimenez, J., Reis, A., Varon-Mateeva, R., Macek, M. and Kalaydjieva, L.
Nature Genetics 7 : 169-175. 1 January 1994

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
Reis, A., Hennies, H.C., Langbein, L., Digweed, M., Mischke, D., Drechsler, M., Schroeck, E., Royer-Pokora, B., Franke, W.W., Sperling, K. and Kuester, W.
Nature Genetics 6 : 174-179. 1 January 1994

1993

Molecular modelling of the norrie disease protein predicts a cystine knot growth factor tertiary structure.
Meitinger, T., Meindl, A., Bork, P., Rost, B., Sander, C., Haasemann, M. and Murken, J.
Nature Genetics 5 : 376-380. 1 January 1993

A disease locus for familiar hypertrophic cardiomyopathy maps to chromosome 1q3.
Watkins, H., MacRae, C., Thierfelder, L.H., Chou, Y., Frenneaux, M., McKenna, W., Seidman, J.G. and Seidman, C.E.
Nature Genetics 3 : 333-336. 1 January 1993