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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.
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
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.
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics.
Li Z, Weller CA, Shah S, Johnson NL, Hao Y, Jarreau PB, Roberts J, Guha D, Bereda C, Klaisner S, Machado P, Zanovello M, Prudencio M, Oskarsson B, Staff NP, Dickson DW, Fratta P, Petrucelli L, Narayan P, Cookson MR, Ward ME, Singleton AB, Nalls MA, Qi YA. Li Z, et al. Among authors: singleton ab. Genomics Proteomics Bioinformatics. 2024 Nov 22:qzae083. doi: 10.1093/gpbjnl/qzae083. Online ahead of print. Genomics Proteomics Bioinformatics. 2024. PMID: 39576693 Free article.
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J, Piña Escudero SD, Cochran JN, Taylor JW, Castruita PA, Jonson C, Barinaga EA, Roberts K, Levine AR, George DS, ÁvilaFunes 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, França Resende EP, Gelvez N, Godoy ME, Maito MA, Javandel 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; Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat). Acosta-Uribe J, et al. Among authors: singleton ab. medRxiv [Preprint]. 2024 Nov 1:2024.10.29.24315197. doi: 10.1101/2024.10.29.24315197. medRxiv. 2024. PMID: 39574875 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, Sreelatha AAK, Fang ZH, Nalls M. Vitale D, et al. Among authors: singleton ab. G3 (Bethesda). 2024 Nov 20:jkae268. doi: 10.1093/g3journal/jkae268. Online ahead of print. G3 (Bethesda). 2024. PMID: 39566101
1,047 results