Browse by Journal Title

2019

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Karakaya, M., Paketci, C., Altmueller, J., Thiele, H., Hoelker, I., 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., Reinert, M.C., Altmüller, J., Krätzner, R., Thiele, H., Rosenbaum, T., 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., Haagerup, A., Gregersen, P.A., Petersen, K.K., Altmüller, J., Thiele, H., Nürnberg, P., Cho, T.J., Kim, O.H., Nishimura, G., 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., Bielack, S.S., Borkhardt, A., Brecht, I.B., Burkhardt, B., Calaminus, G., Debatin, K.M., Deubzer, H., Dirksen, U., Eckert, C., Eggert, A., Erlacher, M., Fleischhack, G., Frühwald, M.C., Gnekow, A., Goehring, G., Graf, N., Hanenberg, H., Hauer, J., Hero, B., Hettmer, S., von Hoff, K., Horstmann, M., Hoyer, J., Illig, T., Kaatsch, P., Kappler, R., Kerl, K., Klingebiel, T., Kontny, U., Kordes, U., Körholz, D., Koscielniak, E., Kramm, C.M., Kuhlen, M., Kulozik, A.E., Lamottke, B., Leuschner, I., Lohmann, D.R., Meinhardt, A., Metzler, M., Meyer, L.H., Moser, O., Nathrath, M., Niemeyer, C.M., Nustede, R., Pajtler, K.W., Paret, C., Rasche, M., Reinhardt, D., Rieß, O., Russo, A., Rutkowski, S., Schlegelberger, B., Schneider, D., Schneppenheim, R., Schrappe, M., Schroeder, C., von Schweinitz, D., Simon, T., Sparber-Sauer, M., Spix, C., Stanulla, M., Steinemann, D., Strahm, B., Temming, P., Thomay, K., von Bueren, A.O., Vorwerk, P., Witt, O., Wlodarski, M., Wössmann, W., Zenker, M., Zimmermann, S., 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., Kuechler, A., Vergano, S., Heinritz, W., Bodurtha, J., Merchant, S.R., Breningstall, G., Ladda, R., Sell, S., Altmüller, J., Bögershausen, N., Timms, A.E., Hackmann, K., Schrock, E., Collins, S., Olds, C., 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., Fano, V., Obregon, M.G., Altmüller, J., Thiele, H., Nürnberg, P., 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., Obregon, M.G., Altmüller, J., Thiele, H., Nürnberg, P., 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., Wieczorek, D., Bögershausen, N., Beleggia, F., Möller-Hartmann, C., Altmüller, J., Thiele, H., 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., Basmanav, F.B., Nanda, A., Fritz, G., Mahmoudi, H., Thiele, H., Wehner, M., Wolf, S., Altmüller, J., Nürnberg, P., Frank, J. and Betz, R.C.
American Journal of Medical Genetics Part A 167 (11): 2555-2562. November 2015