Linda M. Polfus

Ambry Genetics (United States) — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index1.1kcitations54works2.52yr avg
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Research Topics

Genetic Associations and Epidemiology(13), Blood groups and transfusion(7), Genomics and Rare Diseases(6), Erythrocyte Function and Pathophysiology(5), Diabetes, Cardiovascular Risks, and Lipoproteins(4)

Publications52 total

SMARCA4 pathogenic variants: Gynecological cancer histories from a laboratory tested cohort
Gynecologic Oncology·2025Open Access
Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study
JNCI Journal of the National Cancer Institute·2025Open Access
Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans
UNC Libraries·2025Open Access
Abstract 2262: A case-control analysis of germline pathogenic variants among patients with sarcoma
Cancer Research·2025
Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism
Clinical Cancer Research·2025· 2 citedOpen Access
Double <i>CHEK2</i> Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes
JAMA Network Open·2025· 5 citedOpen Access
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program
Journal of the American Heart Association·2024· 10 citedOpen Access
A common TCN1 loss-of-function variant is associated with lower vitamin B12 concentration in African Americans
UNC Libraries·2024Open Access
Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.
PubMed·2024· 2 citedOpen Access
Genome-wide association study of pancreatic fat: The multiethnic cohort adiposity phenotype study
UNC Libraries·2024Open Access
Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes
Genetics in Medicine Open·2024· 9 citedOpen Access
Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium
2023· 2 citedOpen Access
Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort
Genetics in Medicine·2023· 12 citedOpen Access
Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study
Diabetologia·2021· 39 citedOpen Access
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program
The American Journal of Human Genetics·2021· 25 citedOpen Access
Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study
PLoS ONE·2021· 6 citedOpen Access
Risk of breast cancer and prediagnostic urinary excretion of bisphenol A, triclosan and parabens: The Multiethnic Cohort Study
International Journal of Cancer·2021· 36 citedOpen Access
Urinary phthalate exposures and risk of breast cancer: the Multiethnic Cohort study
Breast Cancer Research·2021· 58 citedOpen Access
Genome-wide Association Study of Pancreatic Fat: The Multiethnic Cohort Adiposity Phenotype Study
2021Open Access
Genetic discovery and risk characterization in type 2 diabetes across diverse populations
Human Genetics and Genomics Advances·2021· 55 citedOpen Access
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Frequent Co-authors

Eric Boerwinkle(22), Laura M. Raffield(16), Nathan Pankratz(15), Stephen S. Rich(15), Lisa R. Yanek(14), Heather M. Highland(13), Deborah A. Nickerson(12), Ruth J. F. Loos(12), Bruce M. Psaty(12), Jerome I. Rotter(11), Ming‐Huei Chen(10), Lewis C. Becker(10), Russell P. Tracy(10), Paul L. Auer(10), Ursula M. Schick(9), Jennifer A. Brody(9), Raha Pazoki(9), Rasika A. Mathias(9), Leo‐Pekka Lyytikäinen(9), Mika Kähönen(9)