Bryn D. Webb - Concepedia

Author

Bryn D. Webb

Icahn School of Medicine at Mount Sinai ORCID

Also Known As

B. Webb, B.D. Webb, Bryn D Webb, Bryn D. Webb, Bryn Webb, Bryn D. Webb, Rose Heald, Webb, Bryn, Webb, Bryn D.

Publications

1.9K

Citations

H-Index

Concepts

All Affiliations

Icahn School of Medicine at Mount Sinai Howard Hughes Medical Institute Harvard University Boston Children's Hospital National Human Genome Research Institute

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	465
2	Health Sciences	2	2	26
3	Engineering	1	1	10
4	Natural Sciences	1	1	33
5	Biology	1	1	33

Bryn D. Webb

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS) Gregory E. Crawford, Ingeborg Holt, James R. Whittle, Genome Research	2005	512
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3 Sheena Chew, Ravikumar Balasubramanian, Wai‐Man Chan, Brain	2013	128
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome Nicole J. Lake, Bryn D. Webb, David A. Stroud, The American Journal of Human Genetics Genome InstabilityBiallelic MutationsMrps34 LeadMendelian DisorderGenetic Disorder	2017	122
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function Conor Gruber, Jorg J. A. Calis, Sofija Buta, Immunity Jak1 Kinase TranscriptionalMitophagySignal TransductionAutoimmune DiseaseSignaling Pathway	2020	119
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Nature Communications	2017	106
HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1 Mice Bryn D. Webb, Sherin Shaaban, Harald Gaspar, The American Journal of Human Genetics Knockout MouseHoxb1 MiceDevelopmental BiologySomatic VariantGenetic Disorder	2012	85
<i>OTX2</i> mutations contribute to the otocephaly-dysgnathia complex Nicolas Chassaing, Susanna Sorrentino, Erica E. Davis, Journal of Medical Genetics	2012	63
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Brain	2020	59
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy Simon Edvardson, Jae Kyo Yi, Chaim Jalas, Journal of Medical Genetics	2016	53
Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach Davida Kornreich, Adele A. Mitchell, Bryn D. Webb, The Cleft Palate-Craniofacial Journal	2014	37

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