2022

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad, I. ORCID: https://orcid.org/0000-0003-4845-9227, Khan, A., Noor Ul Ayan, H., Budde, B., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Korejo, A.A., Nürnberg, G., Thiele, H., Tariq, M. ORCID: https://orcid.org/0000-0002-5334-403X, Nürnberg, P. and Erdmann, J.
Journal of Human Genetics 11 October 2022

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).
Boschann, F. ORCID: https://orcid.org/0000-0001-9410-9290, Moreno, D.A., Mensah, M.A., Sczakiel, H.L., Skipalova, K., Holtgrewe, M. ORCID: https://orcid.org/0000-0002-3051-1763, Mundlos, S. ORCID: https://orcid.org/0000-0002-9788-3166 and Fischer-Zirnsak, B. ORCID: https://orcid.org/0000-0002-1075-7571
Journal of Human Genetics 67 (7): 405-410. July 2022

2019

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari, H.S., Sprute, R., Wunderlich, G., Daimagüler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nürnberg, P., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Assmann, B., Koy, A. and Cirak, S.
Journal of Human Genetics 64 (8): 803-813. August 2019

2014

Quantifying the uncertainty in heritability.
Furlotte, N.A., Heckerman, D. and Lippert, C. ORCID: https://orcid.org/0000-0001-6363-2556
Journal of Human Genetics 59 (5): 269-275. May 2014