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The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care.
Clin Transl Sci. 2024 Jan;17(1):e13635. doi: 10.1111/cts.13635. Epub 2023 Dec 8.
Clin Transl Sci. 2024.
PMID: 38064200
Free PMC article.
Review.
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.
Slavotinek A, Prasad H, Outram S, Scollon S, Rego S, Yip T, Hoban H, Foreman KM, Kelley W, Finnila C, Berg J, Murali P, Bonini KE, Martin LJ, Hott A.
Slavotinek A, et al.
Genet Med. 2023 Sep;25(9):100899. doi: 10.1016/j.gim.2023.100899. Epub 2023 May 19.
Genet Med. 2023.
PMID: 37212252
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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME.
Slavotinek A, et al.
NPJ Genom Med. 2023 May 26;8(1):10. doi: 10.1038/s41525-023-00353-0.
NPJ Genom Med. 2023.
PMID: 37236975
Free PMC article.
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Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME.
Slavotinek A, et al.
NPJ Genom Med. 2023 Oct 23;8(1):34. doi: 10.1038/s41525-023-00382-9.
NPJ Genom Med. 2023.
PMID: 37872195
Free PMC article.
No abstract available.
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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M.
Wigby K, et al.
Am J Med Genet A. 2023 Apr;191(4):930-940. doi: 10.1002/ajmg.a.63097. Epub 2023 Jan 18.
Am J Med Genet A. 2023.
PMID: 36651673
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TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Penon-Portmann M, Hodoglugil U, Arun P W, Yip T, Slavotinek A, Tenney JL.
Penon-Portmann M, et al.
Am J Med Genet A. 2023 Apr;191(4):1077-1082. doi: 10.1002/ajmg.a.63100. Epub 2022 Dec 27.
Am J Med Genet A. 2023.
PMID: 36574751
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