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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker