Concepedia

Ying Hu

YH

Statistics

Publications

34

Citations

3K

H-Index

24

Active since

2003

Affiliations

National Institute of Neurological Disorders and Stroke(Current)

National Institutes of Health

Broad Institute

Children's National

Sorbonne Université

Ying Hu is an author at National Institute of Neurological Disorders and Stroke specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2003–2024

34

Publications

34

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 806 citations · Full text

, , +17

Allelic Variation in Gene Expression Is Common in the Human Genome

H. Shuen Lo, Zhining Wang, Ying Hu et al. · Genome Research · 2003 · 449 citations · Full text

, , +16

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler et al. · The American Journal of Human Genetics · 2012 · 159 citations · Full text

, , +8

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 152 citations · Full text

, , +14

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2016 · 150 citations · Full text

, , +17

1–5 of 34