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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Among authors: mccormack c. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Inequality on the frontline: A multi-country study on gender differences in mental health among healthcare workers during the COVID-19 pandemic.
Czepiel D, McCormack C, da Silva ATC, Seblova D, Moro MF, Restrepo-Henao A, Martínez AM, Afolabi O, Alnasser L, Alvarado R, Asaoka H, Ayinde O, Balalian A, Ballester D, Barathie JAL, Basagoitia A, Basic D, Burrone MS, Carta MG, Durand-Arias S, Eskin M, Fernández-Jiménez E, Frey MIF, Gureje O, Isahakyan A, Jaldo R, Karam EG, Khattech D, Lindert J, Martínez-Alés G, Mascayano F, Mediavilla R, Narvaez Gonzalez JA, Nasser-Karam A, Nishi D, Olaopa O, Ouali U, Puac-Polanco V, Ramírez DE, Ramírez J, Rivera-Segarra E, Rutten BPF, Santaella-Tenorio J, Sapag JC, Šeblová J, Soto MTS, Tavares-Cavalcanti M, Valeri L, Sijbrandij M, Susser ES, Hoek HW, van der Ven E. Czepiel D, et al. Among authors: mccormack c. Glob Ment Health (Camb). 2024 Mar 4;11:e34. doi: 10.1017/gmh.2024.18. eCollection 2024. Glob Ment Health (Camb). 2024. PMID: 38572248 Free PMC article.
A simulation-based method to inform serosurvey design for estimating the force of infection using existing blood samples.
Vicco A, McCormack CP, Pedrique B, Amuasi JH, Awuah AA, Obirikorang C, Struck NS, Lorenz E, May J, Ribeiro I, Malavige GN, Donnelly CA, Dorigatti I. Vicco A, et al. Among authors: mccormack cp. PLoS Comput Biol. 2023 Nov 27;19(11):e1011666. doi: 10.1371/journal.pcbi.1011666. eCollection 2023 Nov. PLoS Comput Biol. 2023. PMID: 38011203 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
308 results