A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
2013 · Brain · 129 citations
https://doi.org/10.1093/brain/aws345
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Bryn D. Webb
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Bryn D. Webb is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Genomics and Rare Diseases & Mitochondrial Function and Pathology & Metabolism and Genetic Disorders. The author has an h-index of 21, co-authored 70 publications.
ORCID: 0000-0001-6174-4677Papers by this author
worksNoncoding 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
TUBB3 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
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis
2021 · European Journal of Human Genetics · 21 citations
https://doi.org/10.1038/s41431-021-00883-0
Missense NAA20 variantsimpairing the NatB protein N-terminal acetyltransferase cause autosomal recessivedevelopmental delay, intellectual disability, and microcephaly
2021 · Genetics in Medicine · 19 citations
https://doi.org/10.1038/s41436-021-01264-0
Haploinsufficiency of the basic helix–loop–helix transcription factor<i>HAND2</i>causes congenital heart defects
2020 · American Journal of Medical Genetics Part A · 15 citations
https://doi.org/10.1002/ajmg.a.61537
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