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Article

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

Quantifying the uncertainty in heritability.
Furlotte, N.A. and Heckerman, D. and Lippert, C.
Journal of Human Genetics 59 (5): 269-275. May 2014

Letter

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad, I. and Khan, A. and Noor Ul Ayan, H. and Budde, B. and Altmüller, J. and Korejo, A.A. and Nürnberg, G. and Thiele, H. and Tariq, M. and Nürnberg, P. and Erdmann, J.
Journal of Human Genetics 11 October 2022