Neil Risch

Kaiser Permanente — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

123h-index67.7kcitations457works1.92yr avg
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Research Topics

Genetic Associations and Epidemiology(148), Genomics and Rare Diseases(47), Genetic Mapping and Diversity in Plants and Animals(45), BRCA gene mutations in cancer(33), Genomic variations and chromosomal abnormalities(33)

Publications453 total

Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks
The American Journal of Human Genetics·2025Open Access
The Complex Relationship of Genetic Ancestry With Self‐Reported Race/Ethnicity
Genetic Epidemiology·2025Open Access
Clinical validation of a statin-benefit polygenic score using real-world cohorts of primary prevention participants
2025Open Access
Statin Initiation and Dementia Incidence in a Large Health Care System From 1997 to 2020
Neurology·2025· 2 citedOpen Access
Response to “Comment on ‘Independent associations of high‐density lipoprotein cholesterol and triglyceride levels with Alzheimer's disease and related dementias’ ”
Alzheimer s & Dementia·2025Open Access
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
2025· 1 citedOpen Access
Uncertainty in the estimated effects of statin initiation on risk of dementia: using a multiverse analysis to assess sources of variability
European Journal of Epidemiology·2025· 2 citedOpen Access
Sociodemographic modifiers of effects of statin initiation on dementia incidence: An emulated trial design in a large health care member population with 10+ years of follow‐up
Alzheimer s & Dementia·2025· 1 citedOpen Access
Independent associations of high‐density lipoprotein cholesterol and triglyceride levels with Alzheimer's disease and related dementias
Alzheimer s & Dementia·2025· 7 citedOpen Access
The relationship between life satisfaction and risk preferences of couch potatoes, recreational and elite athletes: the impact of mental dispositions and attitudes
Frontiers in Behavioral Economics·2024Open Access
Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent
JAMA Ophthalmology·2024· 3 citedOpen Access
The Inclusion of Race in Prenatal Screening Algorithms
Clinical Chemistry·2024· 1 citedOpen Access
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
UNC Libraries·2024Open Access
Identification of the Molecular Components of Enhancer-Mediated Gene Expression Variation in Multiple Tissues Regulating Blood Pressure
Hypertension·2024· 2 citedOpen Access
2023 ASHG Lifetime Achievement Award: “If you want to go fast, go alone; if you want to go far, go together”
The American Journal of Human Genetics·2024Open Access
Torsade de Pointes: A Nested Case Control Study in an Integrated Health Care Delivery System
2024
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
npj Genomic Medicine·2024· 15 citedOpen Access
P817: Multivariate symptom modeling and automated phenotype expansion doubles the penetrance of loss-of-function variants in a population-scale cohort*
Genetics in Medicine Open·2024Open Access
Identification of the molecular components of enhancer-mediated gene expression variation in multiple tissues regulating blood pressure
2023Open Access
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
npj Genomic Medicine·2023· 1 citedOpen Access
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Frequent Co-authors

Hua Tang(5), Laurie J. Ozelius(4), Susan Bressman(4), Elizabeth B. Claus(4), W. Douglas Thompson(4), David A. Hinds(4), George C. Ebers(4), A. Dessa Sadovnick(4), Pui–Yan Kwok(4), Kathleen R. Merikangas(3), Esteban G. Burchard(3), Elad Ziv(3), Stanley Fahn(3), Eric Jorgenson(3), Mark Kvale(3), Thomas J. Hoffmann(3), Dilrini K. Ranatunga(3), Carlos Iribarren(3), Catherine Schaefer(3), Dennis Drayna(2)