Concepedia

Rebecca Signer

RS

Statistics

Publications

38

Citations

1.7K

H-Index

25

Active since

2018

Affiliations

University of California, Los Angeles(Current)

Baylor College of Medicine

Harvard University

National Institutes of Health

Boston Children's Hospital

Rebecca Signer is an author at University of California, Los Angeles specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2018–2025

38

Publications

38

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee, Alden Huang, Lee-kai Wang et al. · Genetics in Medicine · 2019 · 221 citations · Full text

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IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

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<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 115 citations · Full text

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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle et al. · Genetics in Medicine · 2018 · 111 citations · Full text

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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

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1–5 of 38