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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Publicado en:Eur J Hum Genet
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2015
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Article
Acceso en línea: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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