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ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Gelb BD, Cavé H, Dillon MW, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM; ClinGen RASopathy Working Group. Gelb BD, et al. Among authors: williams b. Genet Med. 2018 Nov;20(11):1334-1345. doi: 10.1038/gim.2018.3. Epub 2018 Mar 1. Genet Med. 2018. PMID: 29493581 Free PMC article.
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Lepri F, et al. Among authors: williams bj. Hum Mutat. 2011 Jul;32(7):760-72. doi: 10.1002/humu.21492. Epub 2011 Apr 28. Hum Mutat. 2011. PMID: 21387466 Free PMC article.
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. Among authors: williams b. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
Corpus Callosum Abnormalities at Term-Equivalent Age Are Associated with Language Development at 2 Years' Corrected Age in Infants Born Very Preterm.
Kojima K, Kline JE, Altaye M, Kline-Fath BM, Parikh NA; Cincinnati Infant Neurodevelopment Early Prediction Study (CINEPS) Investigators. Kojima K, et al. J Pediatr Clin Pract. 2024 Mar 14;11:200101. doi: 10.1016/j.jpedcp.2024.200101. eCollection 2024 Mar. J Pediatr Clin Pract. 2024. PMID: 38827483 Free PMC article.
Childhood adversity and mental health admission patterns prior to young person suicide (CHASE): a case-control 36 year linked hospital data study, Scotland UK 1981-2017.
Dougall N, Savinc J, Maxwell M, Karatzias T, O'Connor RC, Williams B, John A, Cheyne H, Fyvie C, Bisson JI, Hibberd C, Abbott-Smith S, Nolan L, Murray J. Dougall N, et al. Among authors: williams b. BJPsych Open. 2024 Jun 3;10(4):e124. doi: 10.1192/bjo.2024.69. BJPsych Open. 2024. PMID: 38826035
Gut microbiome correlates of recurrent urinary tract infection: a longitudinal, multi-center study.
Choi J, Thänert R, Reske KA, Nickel KB, Olsen MA, Hink T, Thänert A, Wallace MA, Wang B, Cass C, Barlet MH, Struttmann EL, Iqbal ZH, Sax SR, Fraser VJ, Baker AW, Foy KR, Williams B, Xu B, Capocci-Tolomeo P, Lautenbach E, Burnham CD, Dubberke ER, Dantas G, Kwon JH; CDC Prevention Epicenters Program. Choi J, et al. Among authors: williams b. EClinicalMedicine. 2024 Apr 26;71:102490. doi: 10.1016/j.eclinm.2024.102490. eCollection 2024 May. EClinicalMedicine. 2024. PMID: 38813445 Free PMC article.
6,653 results