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Latin American Trans-ancestry INitiative for OCD genomics (LATINO): Study protocol.
Crowley JJ, Cappi C, Ochoa-Panaifo ME, Frederick RM, Kook M, Wiese AD, Rancourt D, Atkinson EG, Giusti-Rodriguez P, Anderberg JL; Latin American Trans‐ancestry INitiative for OCD genomics; Brazilian Obsessive‐Compulsive Spectrum Disorder Working Group; Abramowitz JS, Adorno VR, Aguirre C, Alves GS, Alves GS, Ancalade N, Arellano Espinosa AA, Arnold PD, Ayton DM, Barbosa IG, Castano LMB, Barrera CN, Berardo MC, Berrones D, Best JR, Bigdeli TB, Burton CL, Buxbaum JD, Callahan JL, Carneiro MCB, Cepeda SL, Chazelle E, Chire JM, Munoz MC, Quiroz PC, Cobite J, Comer JS, Costa DL, Crosbie J, Cruz VO, Dager G, Daza LF, de la Rosa-Gómez A, Del Río D, Delage FZ, Dreher CB, Fay L, Fazio T, Ferrão YA, Ferreira GM, Figueroa EG, Fontenelle LF, Forero DA, Fragoso DTH, Gadad BS, Garrison SR, González A, Gonzalez LD, González MA, Gonzalez-Barrios P, Goodman WK, Grice DE, Guintivano J, Guttfreund DG, Guzick AG, Halvorsen MW, Hovey JD, Huang H, Irreño-Sotomonte J, Janssen-Aguilar R, Jensen M, Jimenez Reynolds AZ, Lujambio JAJ, Khalfe N, Knutsen MA, Lack C, Lanzagorta N, Lima MO, Longhurst MO, Lozada Martinez DA, Luna ES, Marques AH, Martinez MS, de Los Angeles Matos M, Maye CE, McGuire JF, Me… See abstract for full author list ➔ Crowley JJ, et al. Among authors: buxbaum jd. Am J Med Genet B Neuropsychiatr Genet. 2024 Jun;195(4):e32962. doi: 10.1002/ajmg.b.32962. Epub 2023 Nov 9. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 37946624
Expanding GABAergic Neuronal Diversity in iPSC-Derived Disease Models.
Hu R, Boshans LL, Zhu B, Cai P, Tao Y, Youssef M, Girrbach GI, Song Y, Wang X, Tsankov A, Buxbaum JD, Ma S, Yang N. Hu R, et al. Among authors: buxbaum jd. bioRxiv [Preprint]. 2024 Dec 4:2024.12.03.626438. doi: 10.1101/2024.12.03.626438. bioRxiv. 2024. PMID: 39677822 Free PMC article. Preprint.
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, De Sanctis L, Kerkhof J, Haley, Rzasa J, Todd E, Balzo M, Cardaropoli S, Bruselles A, De Rubeis S, Buxbaum JD, Tartaglia M, Sadikovic B, Ferrero GB, Brusco A. Pavinato L, et al. Among authors: buxbaum jd. Clin Genet. 2024 Nov 27. doi: 10.1111/cge.14654. Online ahead of print. Clin Genet. 2024. PMID: 39603792
Amyloid-β predominant Alzheimer's disease neuropathologic change.
Kovacs GG, Katsumata Y, Wu X, Aung KZ, Fardo DW, Forrest SL; Alzheimer's Disease Genetics Consortium; Nelson PT. Kovacs GG, et al. Brain. 2024 Oct 17:awae325. doi: 10.1093/brain/awae325. Online ahead of print. Brain. 2024. PMID: 39417691
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Gluckman J, Levy T, Friedman K, Garces F, Filip-Dhima R, Quinlan A, Iannotti I, Pekar M, Hernandez AL, Nava MT, Kravets E, Siegel A, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Srivastava S, Buxbaum JD, Sahin M, Kolevzon A, Gelb BD; Developmental Synaptopathies Consortium. Gluckman J, et al. Among authors: buxbaum jd. Am J Med Genet A. 2025 Jan;197(1):e63872. doi: 10.1002/ajmg.a.63872. Epub 2024 Sep 11. Am J Med Genet A. 2025. PMID: 39257296
489 results