Browse by Journal Title

2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Iqbal, M. and Maroofian, R. and Çavdarlı, B. and Riccardi, F. and Field, M. and Banka, S. and Bubshait, D.K. and Li, Y. and Hertecant, J. and Baig, S.M. and Dyment, D. and Efthymiou, S. and Abdullah, U. and Makhdoom, E.U.H. and Ali, Z. and Scherf de Almeida, T and Molinari, F. and Mignon-Ravix, C. and Chabrol, B. and Antony, J. and Ades, L. and Pagnamenta, A.T. and Jackson, A. and Douzgou, S. and Beetz, C. and Karageorgou, V. and Vona, B. and Rad, A. and Baig, J.M. and Sultan, T. and Alvi, J.R. and Maqbool, S. and Rahman, F. and Toosi, M.B. and Ashrafzadeh, F. and Imannezhad, S. and Karimiani, E.G. and Sarwar, Y. and Khan, S. and Jameel, M. and Noegel, A.A. and Budde, B. and Altmüller, J. and Motameny, S. and Höhne, W. and Houlden, H. and Nürnberg, P. and Wollnik, B. and Villard, L. and Alkuraya, F.S. and Osmond, M. and 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. and Li, Y. and Yigit, G. and Altmüller, J. and Bader, I. and Bevot, A. and Biskup, S. and Dreha-Kulaczewski, S. and Korenke, C.G. and Kottke, R. and Mayr, J.A. and Preisel, M. and Toelle, S.P. and Wente-Schulz, S. and Wortmann, S.B. and Hahn, H. and Boltshauser, E. and Uhmann, A. and 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. and Motameny, S. and Özdemir, Ö. and Kreutzer, M. and Wang, H. and Daimagüler, H.S. and Becker, K. and Karakaya, M. and Ehrhardt, H. and Elcioglu, N. and Ostojic, S. and Chao, C.M. and Kawalia, A. and Duman, Ö. and Koy, A. and Hahn, A. and Reimann, J. and Schoner, K. and Schänzer, A. and Westhoff, J.H. and Schwaibold, E.M.C. and Cossee, M. and Imbert-Bouteille, M. and von Pein, H. and Haliloglu, G. and Topaloglu, H. and Altmüller, J. and Nürnberg, P. and Thiele, H. and 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. and Schüler, H. and Alawi, M. and Kolbe, V. and Rybczynski, M. and Woitschach, R. and Sheikhzadeh, S. and Stark, V.C. and Olfe, J. and Roser, E. and Seggewies, F.S. and Mahlmann, A. and Hempel, M. and Hartmann, M.J. and Hillebrand, M. and Wieczorek, D. and Volk, A.E. and Kloth, K. and Koch-Hogrebe, M. and Abou Jamra, R.i and Mitter, D. and Altmüller, J. and Wey-Fabrizius, A. and Petersen, C. and Rau, I. and Borck, G. and Kubisch, C. and Mir, T.S. and von Kodolitsch, Y. and 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. and Nazaryan-Petersen, L. and Sun, W. and Mehrjouy, M.M. and Xie, G. and Chen, W. and Hjermind, L.E. and Taschner, P.E.M. and Tuemer, Z.
Genetics in Medicine 18 (5): 494-500. May 2016