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Paper Details

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
44
2018
GAR, MACF1, W-shaped brainstem malformation, Zinc, absent anterior commissure, actin, actin- or microtubule-associated genes, brain malformation, brain-malformation, brainstem dysplasia, brainstem hypoplasia, brainstem malformation, child, children, control cells, cortical malformation, lissencephaly, midline crossing defects, mutant cells, schizophrenia, spectrin repeat domain, whole, zinc
Author NameAffiliation
William B DobynsUniversity of Washington, USA Center for Integrative Brain Research, Seattle Children's Research Institute
Ghayda M MirzaaUniversity of Washington, USA Center for Integrative Brain Research, Seattle Children's Research Institute
Andrew E TimmsCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute
Jonathan A BernsteinStanford School of Medicine
Michael J BamshadUniversity of Washington, USA University of Washington Center for Mendelian Genomics
Michael J BamshadUniversity of Washington, USA University of Washington Center for Mendelian Genomics
Deborah A NickersonUniversity of Washington, USA University of Washington Center for Mendelian Genomics
Deborah A NickersonUniversity of Washington, USA University of Washington Center for Mendelian Genomics
Dan DohertyUniversity of Washington, USA Center for Integrative Brain Research, Seattle Children's Research Institute
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Datasets

Dataset
Description
Source Link
ExAC browserExome sequence data from the Exome Aggregation ConsortiumLink
ExAC browserExome sequence data from the Exome Aggregation ConsortiumLink
ExAC browserExome sequence data from the Exome Aggregation ConsortiumLink
Release 1.2