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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: ziats c. Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38678163 Free article.
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL, Gregg AR, Grody WW, Guo MH, Kearney H, Monaghan KG, Raraigh KS, Taylor J, Zepeda-Mendoza CJ, Ziats C; ACMG Board of Directors. Electronic address: documents@acmg.net. Deignan JL, et al. Among authors: ziats c. Genet Med. 2023 Aug;25(8):100867. doi: 10.1016/j.gim.2023.100867. Epub 2023 Jun 13. Genet Med. 2023. PMID: 37310422 No abstract available.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L. Cooley Coleman JA, et al. Among authors: ziats ca. Hum Mol Genet. 2023 Apr 20;32(9):1457-1465. doi: 10.1093/hmg/ddac296. Hum Mol Genet. 2023. PMID: 36458889
Ichthyosis, petechiae, and arthrogryposis in a neonate.
Haller CN, Paladichuk H, Ziats CA, Buchanan CA, Diaz LZ. Haller CN, et al. Among authors: ziats ca. Pediatr Dermatol. 2023 Mar;40(2):352-354. doi: 10.1111/pde.15169. Epub 2022 Nov 5. Pediatr Dermatol. 2023. PMID: 36334031
New Strategies for Clinical Trials in Autism Spectrum Disorder.
Pauly R, Ziats CA, Abenavoli L, Schwartz CE, Boccuto L. Pauly R, et al. Among authors: ziats ca. Rev Recent Clin Trials. 2021;16(2):131-137. doi: 10.2174/1574887115666201120093634. Rev Recent Clin Trials. 2021. PMID: 33222679 Review.
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