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Select item 68748991.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sebastien Jacquemont, Paulien Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul-Rahman, Vanessa Suckow, Deciphering Developmental Disorders (DDD) Study, Alberto Fernández-Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn V.E. Macville, Salwan Al-Nasiry, Koen van Gassen, Norbert Utzig, Suzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri A. Gradek, Andrew G.L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. Hennekam, Hiromi Hirata, Vera M. Kalscheuer

Hum Mutat. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Hum Mutat. 2019 Dec; 40(12): 2270–2285. Published online 2019 Aug 21. doi: 10.1002/humu.23841

PMCID:: PMC6874899

Abstract Article PDF–742K

Select item 67522662.

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

Elizabeth Quinlan-Jones, Jenny Lord, Denise Williams, Sue Hamilton, Tamas Marton, Ruth Y. Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic J. McMullan, Eamonn R. Maher, Matthew E. Hurles, Mark D. Kilby

Genet Med. 2019; 21(5): 1065–1073. Published online 2018 Oct 8. doi: 10.1038/s41436-018-0298-8