Concepedia

Sienna Aguilar

SA

Statistics

Publications

6

Citations

351

H-Index

6

Active since

2016

Affiliations

Invitae (United States)(Current)

University of California, Los Angeles

Stanford University

Sienna Aguilar is an author at Invitae (United States) specializing in genetics, medical genetics, and molecular genetics.

Publications per year

2016–2023

6

Publications

6

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Elaine Chen, Flavia M. Facio, Kerry Aradhya et al. · JAMA Network Open · 2023 · 217 citations · Full text

, , +17

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Eden Haverfield, Edward D. Esplin, Sienna Aguilar et al. · BMC Medicine · 2021 · 37 citations · Full text

, , +17

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis

Amy C. Sturm, Rebecca Truty, Thomas E. Callis et al. · JAMA Cardiology · 2021 · 29 citations · Full text

, , +17

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR

Keith Nykamp, Rebecca Truty, Darlene Riethmaier et al. · Human Mutation · 2021 · 28 citations · Full text

, , +17

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity

John Garcia, Jackie Tahiliani, Nicole M. Johnson et al. · Frontiers in Cardiovascular Medicine · 2016 · 24 citations · Full text

, , +11

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