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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR, Venner E, Muzny DM, Metcalf GA, Murugan M, Hadley TD, Chander V, de Vries PS, Jia X, Hussain A, Agha AM, Sabo A, Li S, Meng Q, Hu J, Tian X, Cohen M, Yi V, Kovar CL, Gingras MC, Korchina V, Howard C, Riconda DL, Pereira S, Smith HS, Huda ZA, Buentello A, Marino PR, Leiber L, Balasubramanyam A, Amos CI, Civitello AB, Chelu MG, Maag R, McGuire AL, Boerwinkle E, Wehrens XHT, Ballantyne CM, Gibbs RA. Murdock DR, et al. Among authors: smith hs. Genet Med. 2021 Dec;23(12):2404-2414. doi: 10.1038/s41436-021-01294-8. Epub 2021 Aug 6. Genet Med. 2021. PMID: 34363016 Free PMC article.
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL; BabySeq Project Team. Pereira S, et al. Among authors: smith hs. JAMA Pediatr. 2021 Nov 1;175(11):1132-1141. doi: 10.1001/jamapediatrics.2021.2829. JAMA Pediatr. 2021. PMID: 34424265 Free PMC article. Clinical Trial.
Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study.
Armstrong B, Christensen KD, Genetti CA, Parad RB, Robinson JO, Blout Zawatsky CL, Zettler B, Beggs AH, Holm IA, Green RC, McGuire AL, Smith HS, Pereira S; BabySeq Project Team. Armstrong B, et al. Among authors: smith hs. Front Genet. 2022 Apr 27;13:867371. doi: 10.3389/fgene.2022.867371. eCollection 2022. Front Genet. 2022. PMID: 35571041 Free PMC article.
Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.
Smith HS, Ferket BS, Gelb BD, Hindorff L, Ferar KD, Norton ME, Sahin-Hodoglugil N, Slavotinek A, Lich KH, Berg JS, Russell HV. Smith HS, et al. Pediatrics. 2023 Aug 1;152(2):e2022060318. doi: 10.1542/peds.2022-060318. Pediatrics. 2023. PMID: 37470118
357 results