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APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease.
Thomassen JQ, Hampton L, Ulms B, Grenier-Boley B, Heikkinen S, Garcia P, Castillo-Morales A, Kikuchi M, Gim J, Cao H, Küçükali F, Amin N, Yoon D, de Rojas I, Jerez PA, Alvarez V, Arosio B, Bellenguez C, Bergh S, Billingsley K, Blauwendraat C, Boada M, Borroni B, Bossù P, Bullido MJ, Daniele A, Carracedo Á, de Mendonça A, Cookson M, Deckert J, Dichgans M, Djurovic S, Dols-Icardo O, Dufouil C, Düzel E, Escott-Price V, Fladby T, Fratiglioni L, Fu AKY, Galimberti D, García-Alberca JM, Giedraitis V, Garcia-Ribas G, Graff C, Grimmer T, Grünblatt E, Hanon O, Hausner L, Heilmann-Hemibach S, Hort J, Jessen F, Jensen K, Jonson C, Kim Y, Kuznetsov N, Leinonen V, Lipponen A, Luo J, Makarious M, Martiskainen H, Masullo C, Mecocci P, Mehrabian S, Mir P, Miyashita A, Moebus S, Mok KY, Porcel LM, Moreno F, Nacmias B, Parnetti L, Pastor P, Pérez-Tur J, Peters O, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Rainero I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Rongve A, Rossi G, Royo JL, Rujescu D, Saltvedt I, Sáez ME, Sánchez-Valle R, Sanchez-Garcia F, Sandau N, Scarmeas N, Scheffler K, Scherbaum N, Schneider A, Selbæk G, Seripa D, Solfrizzi V, Spallazzi M, Squassina A, Stordal E, Tesi N, Tremoli… See abstract for full author list ➔ Thomassen JQ, et al. medRxiv [Preprint]. 2025 May 9:2025.05.07.25327065. doi: 10.1101/2025.05.07.25327065. medRxiv. 2025. PMID: 40385391 Free PMC article. Preprint.
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG, Liu Z, Li Z, Chung SJ, Lian MM, Tandiono M, Heng YJ, Ng EY, Tan LC, Chng WL, Tan TJ, Peh EK, Ho YS, Chen XY, Lim EY, Chang CH, Leong JJ, Peh TX, Chan LL, Chao Y, Au WL, Prakash KM, Lim JL, Tay YW, Mok V, Chan AY, Lin JJ, Jeon BS, Song K, Tham CC, Pang CP, Ahn J, Park KH, Wiggs JL, Aung T, Tan AH, Ahmad Annuar A, Makarious MB, Blauwendraat C, Nalls MA, Robak LA, Alcalay RN, Gan-Or Z, Reynolds R, Lim SY, Xia Y, Khor CC, Tan EK, Wang Z, Foo JN. Chew EG, et al. Nat Aging. 2025 Feb;5(2):205-218. doi: 10.1038/s43587-024-00760-7. Epub 2024 Nov 21. Nat Aging. 2025. PMID: 39572736 Free PMC article.
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Akçimen F, Paquette K, Crea PW, Saffie-Awad P, Achoru C, Taiwo F, Ozomma S, Onwuegbuzie G, Khani M, Grant S, Owolabi L, Okereke C, Oshinaike O, Iwuozo E, Lee PS, Oyakhire S, Osemwegie N, Daida K, Abubakar S, Olusanya A, Isayan M, Traurig R, Ogunmodede A, Samuel S, Makarious MB, Sa'ad F, Olanigan R, Levine K, Ogbimi EM, Vitale D, Odiase F, Koretsky MJ, Ojini F, Odeniyi O, Fang ZH, Obianozie N, Hall DA, Nwazor E, Xie T, Nwaokorie F, Padmanaban M, Nwani P, Shamim EA, Nnama A, Standaert D, Komolafe M, Dean M, Osaigbovo G, Disbrow E, Ishola I, Rawls A, Imarhiagbe F, Chandra S, Erameh C, Hinson V, Louie N, Idowu A, Solle J, Norris SA, Ibrahim A, Kilbane C, Sukumar G, Shulman LM, Ezuduemoih D, Staisch J, Breaux S, Dalgard C, Foster ER, Bello A, Ameri A, Real R, Ikwenu E, Morris HR, Anyanwu R, Stimming EF, Billingsley K, Alaofin W, Jerez PA, Agabi O, Hernandez DG, Akinyemi R, Arepalli S, Malik L, Owolabi R, Nyandaiti Y, Leonard HL, Wahab K, Step K, Abiodun O, Hernandez CF, Abdulai F, Iwaki H, Bardien S, Klein C, Hardy J, Houlden H, Galvelis KG, Nalls MA, Dahodwala N, Aamodt W, Hill E, Espay A, Factor S, Branson C, Blauwendraat C, Singleton AB, Ojo O, Chahine LM; Black and African American… See abstract for full author list ➔ Akçimen F, et al. medRxiv [Preprint]. 2025 Jan 20:2025.01.14.25320205. doi: 10.1101/2025.01.14.25320205. medRxiv. 2025. PMID: 39867380 Free PMC article. Preprint.
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. medRxiv [Preprint]. 2024 Nov 7:2024.10.17.24315618. doi: 10.1101/2024.10.17.24315618. medRxiv. 2024. PMID: 39484274 Free PMC article. Preprint.
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.
Billingsley KJ, Meredith M, Daida K, Jerez PA, Negi S, Malik L, Genner RM, Moller A, Zheng X, Gibson SB, Mastoras M, Baker B, Kouam C, Paquette K, Jarreau P, Makarious MB, Moore A, Hong S, Vitale D, Shah S, Monlong J, Pantazis CB, Asri M, Shafin K, Carnevali P, Marenco S, Auluck P, Mandal A, Miga KH, Rhie A, Reed X, Ding J, Cookson MR, Nalls M, Singleton A, Miller DE, Chaisson M, Timp W, Gibbs JR, Phillippy AM, Kolmogorov M, Jain M, Sedlazeck FJ, Paten B, Blauwendraat C. Billingsley KJ, et al. bioRxiv [Preprint]. 2024 Dec 17:2024.12.16.628723. doi: 10.1101/2024.12.16.628723. bioRxiv. 2024. PMID: 39764002 Free PMC article. Preprint.
CARDBiomedBench: A Benchmark for Evaluating Large Language Model Performance in Biomedical Research: A novel question-and-answer benchmark designed to assess Large Language Models' comprehension of biomedical research, piloted on Neurodegenerative Diseases.
Bianchi O, Willey M, Alvarado CX, Danek B, Khani M, Kuznetsov N, Dadu A, Shah S, Koretsky MJ, Makarious MB, Weller C, Levine KS, Kim S, Jarreau P, Vitale D, Marsan E, Iwaki H, Leonard H, Bandres-Ciga S, Singleton AB, Nalls MA, Mokhtari S, Khashabi D, Faghri F. Bianchi O, et al. bioRxiv [Preprint]. 2025 Jan 21:2025.01.15.633272. doi: 10.1101/2025.01.15.633272. bioRxiv. 2025. PMID: 39868292 Free PMC article. Preprint.
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J, Escudero SDP, Cochran JN, Taylor JW, Castruita A, Jonson C, Barinaga EA, Roberts K, Levine AR, George DS, AvilaFunes JA, Behrens MI, Bruno MA, Brusco LI, Custodio N, Duran-Aniotz C, Lopera F, Matallana DL, Slachevsky A, Takada LT, Zapata-Restrepo LM, Durón-Reyes DE, de Paula França Resende E, Gelvez N, Gómez LF, Godoy ME, Maito MA, Avandel S, Miller BL, Nalls MA, Leonard H, Vitale D, Bandres-Ciga S, Koretsky MJ, Singleton AB, Pantazis CB, Valcour V, Ibañez A, Kosik KS, Yokoyama JS, Bistue MB. Acosta-Uribe J, et al. Res Sq [Preprint]. 2025 May 6:rs.3.rs-5462510. doi: 10.21203/rs.3.rs-5462510/v1. Res Sq. 2025. PMID: 40386425 Free PMC article. Preprint.
Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.
Step K, Hernández CF, Eltaraifee E, Hernández-Medrano AJ, Kung PJ, Ostrožovičová M, Zirra A, Pérez-Palma E, Mencacci NE, Keller Sarmiento IJ, Morris HR, Mata IF; Global Parkinson’s Genetics Program (GP2); Acosta-Uribe J, Fang ZH, Bandres-Ciga S. Step K, et al. medRxiv [Preprint]. 2025 May 22:2025.05.21.25328076. doi: 10.1101/2025.05.21.25328076. medRxiv. 2025. PMID: 40475162 Free PMC article. Preprint.