Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
2023 · Nature Genetics · 34 citations
https://doi.org/10.1038/s41588-023-01424-9
B
Brenda J. Barry
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
69
Papers
5.1K
Citations
31
h-index
46
i10-index
Brenda J. Barry is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & RNA modifications and cancer & Genomic variations and chromosomal abnormalities. The author has an h-index of 31, co-authored 59 publications.
ORCID: 0000-0003-4358-8126Papers by this author
worksTUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
2021 · Human Genetics · 29 citations
https://doi.org/10.1007/s00439-021-02379-9
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
2024 · Nature Communications · 8 citations
https://doi.org/10.1038/s41467-024-52463-7
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
2024 · Genetics in Medicine · 4 citations
https://doi.org/10.1016/j.gim.2024.101119
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
2025 · PubMed · 0 citations
https://doi.org/10.1167/iovs.66.3.62
Systematic phenotype and genotype characterization of Moebius syndrome
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.103437
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat