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Page 1
Genetic counseling in industry settings: Opportunities in the era of precision health.
McWalter K, Cho MT, Hart T, Nusbaum R, Sebold C, Knapke S, Klein R, Friedman B, Willaert R, Singleton A, Williams L, Butler E, Juusola J. McWalter K, et al. Among authors: singleton a. Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):46-53. doi: 10.1002/ajmg.c.31606. Am J Med Genet C Semin Med Genet. 2018. PMID: 29675991
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Among authors: singleton a. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G. McMillan HJ, et al. Among authors: singleton a. Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3. Orphanet J Rare Dis. 2018. PMID: 30012219 Free PMC article.
Mapping schistosomiasis risk landscapes and implications for disease control: A case study for low endemic areas in the Middle Paranapanema river basin, São Paulo, Brazil.
Ferreira da Silva VA, Kampel M, Silva Dos Anjos R, Gardini Sanches Palasio R, Escada MIS, Tuan R, Singleton A, Glidden CK, Chamberlin A, De Leo GA, Pinter Dos Santos A, Vieira Monteiro AM. Ferreira da Silva VA, et al. Among authors: singleton a. PLoS Negl Trop Dis. 2024 Nov 4;18(11):e0012582. doi: 10.1371/journal.pntd.0012582. eCollection 2024 Nov. PLoS Negl Trop Dis. 2024. PMID: 39495810 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: singleton ab. medRxiv [Preprint]. 2024 Nov 7:2024.10.17.24315618. doi: 10.1101/2024.10.17.24315618. medRxiv. 2024. PMID: 39484274 Free PMC article. Preprint.
Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic.
Lim SY, Tan AH, Ahmad-Annuar A, Okubadejo NU, Lohmann K, Morris HR, Toh TS, Tay YW, Lange LM, Bandres-Ciga S, Mata I, Foo JN, Sammler E, Ooi JCE, Noyce AJ, Bahr N, Luo W, Ojha R, Singleton AB, Blauwendraat C, Klein C. Lim SY, et al. Among authors: singleton ab. Lancet Neurol. 2024 Oct 21:S1474-4422(24)00378-8. doi: 10.1016/S1474-4422(24)00378-8. Online ahead of print. Lancet Neurol. 2024. PMID: 39447588 Review.
The Black and African American Connections to Parkinson's Disease (BLAAC PD) study protocol.
Chahine LM, Louie N, Solle J, Akçimen F, Ameri A, Augenbraun S, Avripas S, Breaux S, Causey C, Chandra S, Dean M, Disbrow EA, Fanty L, Fernandez J, Foster ER, Furr Stimming E, Hall D, Hinson V, Johnson-Turbes A, Jonas C, Kilbane C, Norris SA, Nguyen BT, Padmanaban M, Paquette K, Parry C, Pessoa Rocha N, Rawls A, Shamim EA, Shulman LM, Sipma R, Staisch J, Traurig R, von Coelln R, Wild Crea P, Xie T, Fang ZH, O'Grady A, Kopil CM, McGuire Kuhl M, Singleton A, Blauwendraat C, Bandres-Ciga S; BLAAC PD Study and the Global Parkinson’s Genetics Program (GP2). Chahine LM, et al. Among authors: singleton a. BMC Neurol. 2024 Oct 21;24(1):403. doi: 10.1186/s12883-024-03914-7. BMC Neurol. 2024. PMID: 39434044 Free PMC article.
1,043 results