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Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M, Akçimen F, Grant SM, Akerman SC, Lee PS, Faghri F, Leonard H, Kim JJ, Makarious MB, Koretsky MJ, Rothstein JD, Blauwendraat C, Nalls MA, Singleton A, Bandres-Ciga S. Khani M, et al. Among authors: faghri f. medRxiv [Preprint]. 2024 Nov 17:2024.11.03.24313587. doi: 10.1101/2024.11.03.24313587. medRxiv. 2024. PMID: 39606324 Free PMC article. Preprint.
GenoTools: an open-source Python package for efficient genotype data quality control and analysis.
Vitale D, Koretsky MJ, Kuznetsov N, Hong S, Martin J, James M, Makarious MB, Leonard H, Iwaki H, Faghri F, Blauwendraat C, Singleton AB, Song Y, Levine K, Kumar-Sreelatha AA, Fang ZH, Nalls M. Vitale D, et al. Among authors: faghri f. G3 (Bethesda). 2025 Jan 8;15(1):jkae268. doi: 10.1093/g3journal/jkae268. G3 (Bethesda). 2025. PMID: 39566101 Free PMC article.
A new AI-assisted data standard accelerates interoperability in biomedical research.
Long RA, Ballard S, Shah S, Bianchi O, Jones L, Koretsky MJ, Kuznetsov N, Marsan E, Jen B, Chiang P, Mukherjee A, Blauwendraat C, Leonard H, Vitale D, Levine K, Bandres-Ciga S, Jarreau P, Brannelly P, Pantazis C, Screven L, Andersh K, Kapasi A, Crary JF, Gutman D, Dugger BN, Biber S, Hohman T, Faghri F, Griswold M, Sargent L, van Keuren-Jensen K, Singleton AB, Fann Y, Nalls MA, Iwaki H. Long RA, et al. Among authors: faghri f. medRxiv [Preprint]. 2024 Nov 7:2024.10.17.24315618. doi: 10.1101/2024.10.17.24315618. medRxiv. 2024. PMID: 39484274 Free PMC article. Preprint.
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.
Bandres-Ciga S, Faghri F, Majounie E, Koretsky MJ, Kim J, Levine KS, Leonard H, Makarious MB, Iwaki H, Crea PW, Hernandez DG, Arepalli S, Billingsley K, Lohmann K, Klein C, Lubbe SJ, Jabbari E, Saffie-Awad P, Narendra D, Reyes-Palomares A, Quinn JP, Schulte C, Morris HR, Traynor BJ, Scholz SW, Houlden H, Hardy J, Dumanis S, Riley E, Blauwendraat C, Singleton A, Nalls M, Jeff J, Vitale D; Global Parkinson's Genetics Program (GP2) and the Center for Alzheimer's and Related Dementias (CARD). Bandres-Ciga S, et al. Among authors: faghri f. Mov Disord. 2024 Nov;39(11):2039-2048. doi: 10.1002/mds.29902. Epub 2024 Sep 16. Mov Disord. 2024. PMID: 39283294
GenoTools: An Open-Source Python Package for Efficient Genotype Data Quality Control and Analysis.
Vitale D, Koretsky M, Kuznetsov N, Hong S, Martin J, James M, Makarious MB, Leonard H, Iwaki H, Faghri F, Blauwendraat C, Singleton AB, Song Y, Levine K, Sreelatha AAK, Fang ZH, Nalls M. Vitale D, et al. Among authors: faghri f. bioRxiv [Preprint]. 2024 Jul 3:2024.03.26.586362. doi: 10.1101/2024.03.26.586362. bioRxiv. 2024. Update in: G3 (Bethesda). 2025 Jan 8;15(1):jkae268. doi: 10.1093/g3journal/jkae268 PMID: 38585876 Free PMC article. Updated. Preprint.
GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.
Ojo OO, Bandres-Ciga S, Makarious MB, Crea PW, Hernandez DG, Houlden H, Rizig M, Singleton AB, Noyce AJ, Nalls MA, Blauwendraat C, Okubadejo NU; Nigeria Parkinson's Disease Research Network and the Global Parkinson's Genetics Program (GP2). Ojo OO, et al. Mov Disord. 2024 Apr;39(4):728-733. doi: 10.1002/mds.29753. Epub 2024 Feb 23. Mov Disord. 2024. PMID: 38390630
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
Kim JJ, Vitale D, Otani DV, Lian MM, Heilbron K; 23andMe Research Team; Iwaki H, Lake J, Solsberg CW, Leonard H, Makarious MB, Tan EK, Singleton AB, Bandres-Ciga S, Noyce AJ; Global Parkinson’s Genetics Program (GP2); Blauwendraat C, Nalls MA, Foo JN, Mata I. Kim JJ, et al. Nat Genet. 2024 Jan;56(1):27-36. doi: 10.1038/s41588-023-01584-8. Epub 2023 Dec 28. Nat Genet. 2024. PMID: 38155330 Free PMC article.
64 results