Skip to Main Content

Paper Details

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Nat Genet
6
2023
FBMN, FBMNs, GATA2, Gata2, Gata3, HCFP1, Hereditary congenital facial paresis type 1, IEEs, NR2F1, SNVs, absent or limited facial movement, autosomal dominant disorder, chromosome 3q21-q22, enhancer reporter, enhancers, facial branchial motor, facial branchial motor neuron, humanized, inner-ear efferent neuron, mouse, neuron-specific GATA2 regulatory region, rare mendelian disease, rhombomere, rhombomere 4 motor neurons, silencer, single-nucleotide variants
Author NameAffiliation
Bryn D WebbUniversity of Wisconsin School of Medicine and Public Health
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbUniversity of Wisconsin School of Medicine and Public Health
Bryn D WebbIcahn School of Medicine at Mount Sinai
Monkol LekYale University School of Medicine
Christopher K ZalewskiNational Institute on Deafness and Other Communication Disorders
Kelly A KingNational Institute on Deafness and Other Communication Disorders
Carmen C BrewerNational Institute on Deafness and Other Communication Disorders
Flavia M FacioCenter for Precision Health Research, National Human Genome Research Institute
Flavia M FacioInvitae Corporation
Flavia M FacioCenter for Precision Health Research, National Human Genome Research Institute
Flavia M FacioInvitae Corporation
Narisu NarisuCenter for Precision Health Research, National Human Genome Research Institute
Lori L BonnycastleCenter for Precision Health Research, National Human Genome Research Institute
Amy J SwiftCenter for Precision Health Research, National Human Genome Research Institute
Peter S ChinesCenter for Precision Health Research, National Human Genome Research Institute
Rose-Mary BoustanyAmerican University of Beirut Medical Center
David A MackeyLions Eye Institute, University of Western Australia
Stuart H OrkinHoward Hughes Medical Institute
Stuart H Orkin
Stephen C J ParkerUniversity of Michigan ann arbor
Stephen C J ParkerUniversity of Michigan ann arbor
Francis S CollinsCenter for Precision Health Research, National Human Genome Research Institute
Francis S CollinsCenter for Precision Health Research, National Human Genome Research Institute
Len A PennacchioLawrence Berkeley National Laboratory
Len A PennacchioLawrence Berkeley National Laboratory
  • 1 - 26

Datasets