Browse by Journal Title

2019

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

2017

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Weissbach, S. and Reinert, M.C. and Altmüller, J. and Krätzner, R. and Thiele, H. and Rosenbaum, T. and 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. and Haagerup, A. and Gregersen, P.A. and Petersen, K.K. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Cho, T.J. and Kim, O.H. and Nishimura, G. and Wollnik, B. and Vogel, I.
American Journal of Medical Genetics Part A 173 (4): 1102-1108. April 2017

Childhood cancer predisposition syndromes - a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
Ripperger, T. and Bielack, S.S. and Borkhardt, A. and Brecht, I.B. and Burkhardt, B. and Calaminus, G. and Debatin, K.M. and Deubzer, H. and Dirksen, U. and Eckert, C. and Eggert, A. and Erlacher, M. and Fleischhack, G. and Frühwald, M.C. and Gnekow, A. and Goehring, G. and Graf, N. and Hanenberg, H. and Hauer, J. and Hero, B. and Hettmer, S. and von Hoff, K. and Horstmann, M. and Hoyer, J. and Illig, T. and Kaatsch, P. and Kappler, R. and Kerl, K. and Klingebiel, T. and Kontny, U. and Kordes, U. and Körholz, D. and Koscielniak, E. and Kramm, C.M. and Kuhlen, M. and Kulozik, A.E. and Lamottke, B. and Leuschner, I. and Lohmann, D.R. and Meinhardt, A. and Metzler, M. and Meyer, L.H. and Moser, O. and Nathrath, M. and Niemeyer, C.M. and Nustede, R. and Pajtler, K.W. and Paret, C. and Rasche, M. and Reinhardt, D. and Rieß, O. and Russo, A. and Rutkowski, S. and Schlegelberger, B. and Schneider, D. and Schneppenheim, R. and Schrappe, M. and Schroeder, C. and von Schweinitz, D. and Simon, T. and Sparber-Sauer, M. and Spix, C. and Stanulla, M. and Steinemann, D. and Strahm, B. and Temming, P. and Thomay, K. and von Bueren, A.O. and Vorwerk, P. and Witt, O. and Wlodarski, M. and Wössmann, W. and Zenker, M. and Zimmermann, S. and Pfister, S.M. and Kratz, C.P.
American Journal of Medical Genetics Part A 173 (4): 1017-1037. April 2017

2016

Update on the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome.
Di Donato, N. and Kuechler, A. and Vergano, S. and Heinritz, W. and Bodurtha, J. and Merchant, S.R. and Breningstall, G. and Ladda, R. and Sell, S. and Altmüller, J. and Bögershausen, N. and Timms, A.E. and Hackmann, K. and Schrock, E. and Collins, S. and Olds, C. and 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. and Fano, V. and Obregon, M.G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and 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. and Obregon, M.G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and 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. and Wieczorek, D. and Bögershausen, N. and Beleggia, F. and Möller-Hartmann, C. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Wollnik, B.
American Journal of Medical Genetics Part A 170 (3): 728-733. March 2016

2015

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