Concepedia

Sarah K. Fiordaliso

SK

Statistics

Publications

3

Citations

83

H-Index

3

Active since

2018

Affiliations

University of Pennsylvania(Current)

Children's Hospital of Philadelphia

Osaka Women's and Children's Hospital

Yokohama City University

Sarah K. Fiordaliso is an author at University of Pennsylvania specializing in genetics, neurodegenerative diseases, and transcriptional regulation.

ORCID

Top concepts

Publications per year

2018–2019

3

Publications

3

Clinical and molecular spectrum of CHOPS syndrome

Sarah E. Raible, Devanshi Mehta, Chiara Bettale et al. · American Journal of Medical Genetics Part A · 2019 · 37 citations · Full text

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

Alyssa Ritter, Carey McDougall, Cara Skraban et al. · American Journal of Medical Genetics Part A · 2018 · 30 citations

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Sarah K. Fiordaliso, Aiko Iwata‐Otsubo, Alyssa Ritter et al. · The American Journal of Human Genetics · 2019 · 16 citations · Full text

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