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Page 1
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Jerez PÁ, Wild Crea PA, Ramos DM, Gustavsson EK, Radefeldt M, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu C, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Jerez PÁ, et al. Among authors: blauwendraat c. medRxiv [Preprint]. 2024 Feb 24:2024.02.20.24302827. doi: 10.1101/2024.02.20.24302827. medRxiv. 2024. Update in: Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2 PMID: 39802803 Free PMC article. Updated. Preprint.
Genetic regulation of TERT splicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential.
Florez-Vargas O, Ho M, Hogshead M, Lee CH, Papenberg BW, Forsythe K, Jones K, Luo W, Teshome K, Blauwendraat C, Billingsley KJ, Kolmogorov M, Meredith M, Paten B, Chari R, Zhang C, Schneekloth JS, Machiela MJ, Chanock SJ, Gadalla S, Savage SA, Mbulaiteye SM, Prokunina-Olsson L. Florez-Vargas O, et al. Among authors: blauwendraat c. medRxiv [Preprint]. 2024 Nov 5:2024.11.04.24316722. doi: 10.1101/2024.11.04.24316722. medRxiv. 2024. PMID: 39802763 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, Alvarez Jerez P, 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. Among authors: blauwendraat c. bioRxiv [Preprint]. 2024 Dec 17:2024.12.16.628723. doi: 10.1101/2024.12.16.628723. bioRxiv. 2024. PMID: 39764002 Free PMC article. Preprint.
Prioritizing Parkinson's disease risk genes in genome-wide association loci.
Lange LM, Cerquera-Cleves C, Schipper M, Panagiotaropoulou G, Braun A, Kraft J, Awasthi S, Bell N, Posthuma D, Ripke S, Blauwendraat C, Heilbron K. Lange LM, et al. Among authors: blauwendraat c. medRxiv [Preprint]. 2024 Dec 14:2024.12.13.24318996. doi: 10.1101/2024.12.13.24318996. medRxiv. 2024. PMID: 39711693 Free PMC article. Preprint.
The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.
Daida K, Yoshino H, Malik L, Baker B, Ishiguro M, Genner R, Paquette K, Li Y, Nishioka K, Masuzugawa S, Hirano M, Takahashi K, Kolmogorov M, Billingsley KJ, Funayama M, Blauwendraat C, Hattori N. Daida K, et al. Among authors: blauwendraat c. Ann Neurol. 2024 Dec 19. doi: 10.1002/ana.27155. Online ahead of print. Ann Neurol. 2024. PMID: 39699073
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Álvarez Jerez P, et al. Among authors: blauwendraat c. Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2. Epub 2024 Dec 12. Nat Struct Mol Biol. 2024. PMID: 39668204 Free PMC article.
Bidirectional relationship between olfaction and Parkinson's disease.
Kim JJ, Bandres-Ciga S, Heilbron K; 23andMe Research Team; Blauwendraat C, Noyce AJ. Kim JJ, et al. Among authors: blauwendraat c. NPJ Parkinsons Dis. 2024 Dec 5;10(1):232. doi: 10.1038/s41531-024-00838-4. NPJ Parkinsons Dis. 2024. PMID: 39639040 Free PMC article.
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H. Chen Z, et al. Among authors: blauwendraat c. Mov Disord. 2024 Dec 5. doi: 10.1002/mds.30077. Online ahead of print. Mov Disord. 2024. PMID: 39635987
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: blauwendraat c. medRxiv [Preprint]. 2024 Nov 17:2024.11.03.24313587. doi: 10.1101/2024.11.03.24313587. medRxiv. 2024. PMID: 39606324 Free PMC article. Preprint.
211 results