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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: scott tm, scott da. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Turvey SE, Lehman A. Mohajeri A, et al. Among authors: scott da. J Med Genet. 2023 Nov;60(11):1092-1104. doi: 10.1136/jmg-2022-109127. Epub 2023 Jun 14. J Med Genet. 2023. PMID: 37316189
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
Copeland I, Wonkam-Tingang E, Gupta-Malhotra M, Hashmi SS, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Haldipur A, Desire Z, Coban-Akdemir ZH, Scott DA, Li Q, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Copeland I, et al. Among authors: scott da. JCI Insight. 2024 May 8;9(9):e172152. doi: 10.1172/jci.insight.172152. JCI Insight. 2024. PMID: 38716726 Free article.
A Phase Three Study of the Safety and Immunogenicity of a Four-dose Series of 20-valent Pneumococcal Conjugate Vaccine in Healthy Infants.
Senders S, Klein NP, Tamimi N, Thompson A, Baugher G, Trammel J, Peng Y, Giardina P, Scully IL, Pride M, Center KJ, Gruber WC, Scott DA, Watson W. Senders S, et al. Among authors: scott da. Pediatr Infect Dis J. 2024 Mar 26;43(6):596-603. doi: 10.1097/INF.0000000000004334. Online ahead of print. Pediatr Infect Dis J. 2024. PMID: 38535409 Free PMC article.
A Phase 3, Single-Arm Trial to Evaluate the Safety and Immunogenicity of a 20-Valent Pneumococcal Conjugate Vaccine in Healthy Children 15 Months Through <18 Years of Age.
Meyer J, Silas P, Ouedraogo GL, McElwee K, Keep G, Trammel J, Peng Y, Scully IL, Gruber WC, Scott DA, Watson W. Meyer J, et al. Among authors: scott da. Pediatr Infect Dis J. 2024 Mar 15;43(6):574-81. doi: 10.1097/INF.0000000000004318. Online ahead of print. Pediatr Infect Dis J. 2024. PMID: 38502894 Free PMC article.
880 results