Browse by Journal Title

2021

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

2020

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

2019

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

2016

A germline chromothripsis event stably segregating in 11 individuals through three generations.
Bertelsen, B., Nazaryan-Petersen, L., Sun, W., Mehrjouy, M.M., Xie, G., Chen, W., Hjermind, L.E., Taschner, P.E.M. and Tuemer, Z.
Genetics in Medicine 18 (5): 494-500. May 2016