De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R. F. Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M. Mancini, Rolph Pfundt, Ka Man Wu, Conny M. A. van Ravenswaaij-Arts, Hermine E. Veenstra-Knol, Britt-Marie M. Anderlid, Stephen A. Wood, Sau Wai Cheung, Angela Barnicoat, Frank Probst, Pilar Magoulas, Alice S. Brooks, Helena Malmgren, Arja Harila-Saari, Carlo M. Marcelis, Maaike VreeburgEmma Hobson, V. Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Hwei Meeng Lai, Deepti Domingo, Bruno Reversade, Jozef Gecz, Christian Gilissen, Han G. Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)
Original languageEnglish
Pages (from-to)373-381
JournalAmerican Journal of Human Genetics
Volume98
Issue number2
DOIs
Publication statusPublished - 4 Feb 2016

Cite this

Reijnders, M. R. F., Zachariadis, V., Latour, B., Jolly, L., Mancini, G. M., Pfundt, R., Wu, K. M., van Ravenswaaij-Arts, C. M. A., Veenstra-Knol, H. E., Anderlid, B-M. M., Wood, S. A., Cheung, S. W., Barnicoat, A., Probst, F., Magoulas, P., Brooks, A. S., Malmgren, H., Harila-Saari, A., Marcelis, C. M., ... Kleefstra, T. (2016). De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American Journal of Human Genetics, 98(2), 373-381. https://doi.org/10.1016/j.ajhg.2015.12.015