Concepedia

Stephen McGee

SM

5

Publications

154

Citations

5

H-Index

2023

Active since

Affiliations

Boston Children's Hospital(Current)

Harvard University

Massachusetts General Hospital

Rockefeller University

Yale University

Stephen McGee is an author at Boston Children's Hospital specializing in medicine, genetics, and neurology.

ORCID

Top concepts

Publications per year

2023–2024

5

Publications

5

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 78 citations · Full text

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

Rebecca I. Torene, María J. Guillen Sacoto, Francisca Millan et al. · The American Journal of Human Genetics · 2023 · 27 citations · Full text

, , +12

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

Andrew T. Timberlake, Stephen McGee, Garrett Allington et al. · The American Journal of Human Genetics · 2023 · 19 citations · Full text

, , +10

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Adam J. Kundishora, Garrett Allington, Stephen McGee et al. · Nature Medicine · 2023 · 15 citations · Full text

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A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

Amrita Singh, Garrett Allington, Stephen Viviano et al. · Brain · 2023 · 15 citations · Full text

, , +29

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