Get started
Author

Sarah R. Poll

Observed names: S. Poll, Sarah Poll
ORCID: 0000-0003-2101-1203
Observed ORCID: 0000-0003-2101-1203
OpenAlex ID: A5030601649
Clinical Variant Reclassification in Hereditary Disease Genetic Testing
2024 · Yuya Kobayashi, Elaine Chen, et al. · JAMA Network Open · 72
PDF
Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency
2022 · Jessica Quinn, Vicki Modell, et al. · Frontiers in Immunology · 24
PDF
Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making
2023 · Charles Shelton, Antonio Ruiz, et al. · Annals of Surgical Oncology · 16
PDF
Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach
2025 · Mia J. Gruzin, Matthew Hobbs, et al. · Genetics in Medicine · 14
Germline multigene panel testing in acute and chronic pancreatitis
2024 · Mitchell L. Ramsey, Brandie Heald, et al. · PLoS ONE · 11
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
2024 · Gretchen MacCarrick, Swaroop Aradhya, et al. · American Journal of Medical Genetics Part A · 9
PDF
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories
2025 · Kathryn E. Hatchell, Sarah R. Poll, et al. · The American Journal of Human Genetics · 8
PDF
Derivative and non-derivative aneuploidy rates in PGT tested blastocysts from carriers of structural rearrangements
2024 · Lauren Walters-Sen, Dana Neitzel, et al. · Reproductive BioMedicine Online · 3
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
2026 · Joseph M. Devaney, Jessica X. Chong, et al. · The American Journal of Human Genetics · 2
Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2 -Related Long-QT Syndrome
2025 · Chai-Ann Ng, Matthew J. O’Neill, et al. · Circulation Genomic and Precision Medicine · 2
PDF
A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening
2025 · Mia J. Gruzin, Matthew Hobbs, et al. · Data in Brief · 1
The ‘Goldilocks’ panel: determining the optimal number of genes to include for equitable, pan-ancestry carrier screening
2024 · Mia J. Gruzin, Matthew Hobbs, et al. · Pathology · 1
PDF
P493: The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening
2024 · Leslie Burnett, Mia Gruzin, et al. · Genetics in Medicine Open · 1
PDF
Maternal Sex Chromosome Aneuploidy Identified through Noninvasive Prenatal Screening: Clinical Profile and Patient Experience
2023 · Aaron W. Roberts, Melissa K. Maisenbacher, et al. · American Journal of Perinatology · 1
eP472: Deriving risk estimates for balanced rearrangement carriers utilizing PGT-SR data
2022 · Lauren Walters-Sen, Dana Neitzel, et al. · Genetics in Medicine · 1
Clinical Utility of Human Review: Experience With Previously Unknown Rearrangement Carriers Using Fast-seqs, a Next-generation Sequencing Pgt Assay
2021 · Lauren Walters-Sen, Dana Neitzel, et al. · Fertility and Sterility · 1
Variant Interpretation and Reporting Approaches in the GUARDIAN Study of Genomic Newborn Screening
2026 · Mehmet Bugrahan Duz, Jacob Hagen, et al. · Genetics in Medicine Open
Copy number variant detection by exome/genome sequencing versus chromosomal microarray: A comparative study of over 9000 clinical cases
2026 · Sarah R. Poll, Flavia M. Facio, et al. · Genetics in Medicine
PDF
Ensuring equity in reproductive carrier screening of CFTR with increasing population diversity
2026 · Mia J. Gruzin, Jaysen Knezovich, et al. · Journal of Cystic Fibrosis
PDF
P633: Benchmarking variant classification quality: Concordance of an ACMG-based framework with >400,000 ClinVar submissions from over a decade of clinical testing
2026 · Flavia Facio, Sarah Poll, et al. · Genetics in Medicine Open
PDF
P227: Variant interpretation and reporting approaches in the GUARDIAN study of genomic newborn screening
2026 · Mehmet Bugrahan Duz, Jacob Hagen, et al. · Genetics in Medicine Open
PDF
P569: The diagnostic yield of exome and genome sequencing in a large and diverse cohort of over 300,000 patients: Context matters*
2026 · Kirsten Kelly, Melanie Napier, et al. · Genetics in Medicine Open
PDF
P663: Early experiences of a commercial laboratory with ultra-rapid genome sequencing: Insights from 100 cases
2026 · Melanie Napier, Sarah Poll, et al. · Genetics in Medicine Open
PDF
Conventional clinical characteristics do not predict the result of genetic testing in adults with epilepsy
2025 · Wei Zhao, Yi-Lee Ting, et al. · Seizure
P272: Does sponsored genetic testing for pediatric epilepsy expand access?
2025 · Sarah Poll, Yi-Lee Ting, et al. · Genetics in Medicine Open
Works count: 38
Citation count: 167
H-index: 7
I10-index: 5
Year
Topic
Type