Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

The combination of family-based linkage analysis with high-throughput sequencing is a powerful approach to identifying rare genetic variants that contribute to genetically heterogeneous syndromes. Using parametric multipoint linkage analysis and whole exome sequencing, we have identified a gene resp...

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Опубликовано в: :Eur J Hum Genet
Главные авторы: Ercan-Sencicek, A Gulhan, Jambi, Samira, Franjic, Daniel, Nishimura, Sayoko, Li, Mingfeng, El-Fishawy, Paul, Morgan, Thomas M, Sanders, Stephan J, Bilguvar, Kaya, Suri, Mohnish, Johnson, Michele H, Gupta, Abha R, Yuksel, Zafer, Mane, Shrikant, Grigorenko, Elena, Picciotto, Marina, Alberts, Arthur S, Gunel, Murat, Šestan, Nenad, State, Matthew W
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2015
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297910/
https://ncbi.nlm.nih.gov/pubmed/24781755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.82
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