Concepedia
Statistics
Publications
15
Citations
785
H-Index
13
Active since
2017
Affiliations
Baylor College of Medicine(Current)
Duke Medical Center
Duke University
Columbia University
National Institutes of Health
Sarah K. Nicholas is an author at Baylor College of Medicine specializing in life sciences, genetics, and molecular genetics.
Publications per year
2017–2023
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text
Public Health, Biomedical Informatics, Health Informatics +13
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Monika Oláhová, Wan Hee Yoon, Kyle Thompson et al. · The American Journal of Human Genetics · 2018 · 107 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text
Life Sciences, Biochemistry, Cell Biology +12
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Vandana Shashi, Kelly Schoch, Rebecca C. Spillmann et al. · Genetics in Medicine · 2018 · 81 citations · Full text
Medicine, Bioinformatics, Biomedical Informatics +6
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Loren D.M. Peña, Yong‐Hui Jiang, Kelly Schoch et al. · Genetics in Medicine · 2017 · 52 citations
Life Sciences, Genetics, Molecular Genetics +16
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