Article

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. ORCID: https://orcid.org/0000-0003-4372-1521, Motameny, S., Höhne, W., Houlden, H., Nürnberg, P., Wollnik, B., Villard, L., Alkuraya, F.S., Osmond, M., Hussain, M.S. and Yigit, G. ORCID: https://orcid.org/0000-0003-2777-0198
Genetics in Medicine 23 (11): 2138-2149. November 2021

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate, Y.A., Uehara, T., Abe, K., Oginuma, M., Harako, S., Ishitani, S., Lehesjoki, A.E., Bierhals, T., Kloth, K., Ehmke, N., Horn, D., Holtgrewe, M. ORCID: https://orcid.org/0000-0002-3051-1763, Anderson, K., Viskochil, D., Edgar-Zarate, C.L., Sacoto, M.J.Guillen, Schnur, R.E., Morrow, M.M., Sanchez-Valle, A., Pappas, J., Rabin, R., Muona, M., Anttonen, A.K., Platzer, K., Luppe, J., Gburek-Augustat, J., Kaname, T., Okamoto, N., Mizuno, S., Kaido, Y., Ohkuma, Y., Hirose, Y., Ishitani, T. and Kosaki, K.
Genetics in Medicine 23 (6): 1050-1057. June 2021

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder, S., Li, Y., Yigit, G., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, 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. ORCID: https://orcid.org/0000-0001-6823-9091
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. ORCID: https://orcid.org/0000-0003-4372-1521, Nürnberg, P., Thiele, H., Heller, R. and Cirak, S. ORCID: https://orcid.org/0000-0003-3040-6477
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. ORCID: https://orcid.org/0000-0003-4372-1521, Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T.S., von Kodolitsch, Y., Kutsche, K. and Rosenberger, G. ORCID: https://orcid.org/0000-0003-3625-3109
Genetics in Medicine 21 (8): 1832-1841. August 2019

A germline chromothripsis event stably segregating in 11 individuals through three generations.
Bertelsen, B., Nazaryan-Petersen, L., Sun, W. ORCID: https://orcid.org/0000-0001-9607-1361, Mehrjouy, M.M., Xie, G. ORCID: https://orcid.org/0000-0002-8286-2987, Chen, W. ORCID: https://orcid.org/0000-0003-3263-1627, Hjermind, L.E., Taschner, P.E.M. and Tuemer, Z.
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