Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
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Janssen Research & Development (United States)ORCID 0000-0003-4182-4535Unclaimed ORCID profile · follow to get notified of new preprints
10 papers
Recent·Most cited
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
Poppy Zenzi Grimes, Brittany L. Mitchell, Katherine Nina Thompson…·Alex S. F. Kwong
This study identifies 52 genetic variants associated with adolescent-onset depression through a large GWAS, revealing age-specific mechanisms and potential drug targets.
Jonathan K. L. Mak, Chenxi Qin, Moritz Krüger…·Ekaterina A. Khramtsova
This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.
Ville Salo, Juhani H. Määttä, Eeva Sliz…·Jukka T. Koskela
This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.
Mark J. Adams, Jackson G. Thorp, Bradley S. Jermy…·Eske M. Derks
This study identifies genetic subtypes of major depressive symptoms by analyzing data from clinical and community cohorts, finding distinct factors for appetite/weight symptoms and missing data patterns.
Karen He, Ekaterina A. Khramtsova, Alfredo Cabrera‐Socorro…·Mary Helen Black
This study examines APOE Christchurch carriers in UK Biobank to assess their risk of Alzheimer's disease, cardiovascular disease, and dyslipidemia, finding lower apoB levels and reduced AD risk.
Sarah M. C. Colbert, Alexander Samir Hatoum, Andrey A. Shabalin…·Emma C. Johnson
The paper examines genetic overlaps between suicide-related behaviors and substance use disorders using GWAS summary statistics and finds significant genetic correlations but little evidence of causation.
Emily DiBlasi, Andrey A. Shabalin, Eric T. Monson…·Hilary H Coon
The paper identifies five rare SNPs associated with suicide death using genetic data from the USGRS and controls, highlighting their potential role in suicide risk and related biological processes.
Anna R. Docherty, Andrey A. Shabalin, Emily DiBlasi…·Hilary H Coon
This paper conducts a genome-wide association study of suicide death and shows polygenic scores predict suicide case-control status and related psychiatric traits.
Hilary H Coon, Todd M. Darlington, Emily DiBlasi…·Douglas Gray
The paper identifies 207 genes associated with completed suicide using genomic data from 43 high-risk Utah families, finding four significant variants linked to suicide risk.