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Natasha L. Rudy | Researchclopedia

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Natasha L. Rudy

27

Works

310

Citations

8

h-index

8

i10-index

Research Topics

Genomics and Rare Diseases BRCA gene mutations in cancer Genetics and Neurodevelopmental Disorders

Affiliations

Seattle Children's Hospital2020–2020

University of Washington2020–2020

University of Alabama at Birmingham2018–2023

Greenwood Genetic Center2025–2025

Top Works

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Carole Le Coz,David N. Nguyen,et al.

202171 citations

Genomic variations and chromosomal abnormalities

Congenital heart defects research

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Patrick R. Gonzales,Erica Andersen,et al.

202165 citations

Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Siddharth Banka,Abigail Bennington,et al.

202242 citations

<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk,Margot A. Cousin,et al.

202129 citations

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Bertrand Isidor,Frédéric Ebstein,et al.

202125 citations

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Maria Asif,Emrah Kaygusuz,et al.

202220 citations

Genetic testing hearing loss: The challenge of non syndromic mimics

Catherine Gooch,Natasha L. Rudy,et al.

202117 citations

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses <i>TCF20</i> and <i>TNFRSF13C</i>

Jariya Upadia,Patrick R. Gonzales,et al.

201815 citations

Inherited <scp>CSNK2A1</scp> variants in families with <scp>Okur‐Chung</scp> neurodevelopmental syndrome

Newell Belnap,Aiai Price‐Smith,et al.

20238 citations