Concepedia

Emily S Doherty

ES

4

Publications

395

Citations

4

H-Index

2006

Active since

Affiliations

National Human Genome Research Institute(Current)

Carilion Clinic

National Institutes of Health

University of Calgary

Children's Hospital of Philadelphia

Emily S Doherty is an author at National Human Genome Research Institute specializing in craniofacial development, scleroderma, and craniofacial anomalies.

Top concepts

Publications per year

2006–2021

4

Publications

4

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 202 citations · Full text

Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

Emily S Doherty, Felicitas Lacbawan, Donald W. Hadley et al. · American Journal of Medical Genetics Part A · 2007 · 115 citations · Full text

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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Filomena Pirozzi, Matthew Berkseth, Rylee Shear et al. · Brain · 2021 · 51 citations · Full text

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness

Annette Feigenbaum, Renkui Bai, Emily S Doherty et al. · American Journal of Medical Genetics Part A · 2006 · 27 citations

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