Concepedia

Bryn D. Webb

BD

34

Publications

1.8K

Citations

21

H-Index

2005

Active since

Affiliations

Icahn School of Medicine at Mount Sinai(Current)

Howard Hughes Medical Institute

Harvard University

Boston Children's Hospital

National Human Genome Research Institute

Bryn D. Webb is an author at Icahn School of Medicine at Mount Sinai specializing in medicine, genetics, and molecular genetics.

ORCID

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Publications per year

2005–2023

34

Publications

34

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)

Gregory E. Crawford, Ingeborg Holt, James R. Whittle et al. · Genome Research · 2005 · 512 citations · Full text

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Sheena Chew, Ravikumar Balasubramanian, Wai‐Man Chan et al. · Brain · 2013 · 128 citations · Full text

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud et al. · The American Journal of Human Genetics · 2017 · 122 citations · Full text

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Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

Conor Gruber, Jorg J. A. Calis, Sofija Buta et al. · Immunity · 2020 · 119 citations · Full text

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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami et al. · Nature Communications · 2017 · 106 citations · Full text

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