Concepedia

Diane B. Zastrow

DB

Statistics

Publications

16

Citations

816

H-Index

13

Active since

2018

Affiliations

Baylor College of Medicine(Current)

Stanford University

Columbia University

Duke University

University of California, Los Angeles

Diane B. Zastrow is an author at Baylor College of Medicine specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2018–2022

16

Publications

16

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 108 citations · Full text

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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

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 · 80 citations · Full text

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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Christine G. Preston, Matt W. Wright, Rao Madhavrao et al. · Genome Medicine · 2022 · 79 citations · Full text

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

Marc Jan Bonder, Craig Smail, Michael J. Gloudemans et al. · Nature Genetics · 2021 · 71 citations · Full text

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1–5 of 16