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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. Among authors: rego s. 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.
Longitudinal multi-omics of host-microbe dynamics in prediabetes.
Zhou W, Sailani MR, Contrepois K, Zhou Y, Ahadi S, Leopold SR, Zhang MJ, Rao V, Avina M, Mishra T, Johnson J, Lee-McMullen B, Chen S, Metwally AA, Tran TDB, Nguyen H, Zhou X, Albright B, Hong BY, Petersen L, Bautista E, Hanson B, Chen L, Spakowicz D, Bahmani A, Salins D, Leopold B, Ashland M, Dagan-Rosenfeld O, Rego S, Limcaoco P, Colbert E, Allister C, Perelman D, Craig C, Wei E, Chaib H, Hornburg D, Dunn J, Liang L, Rose SMS, Kukurba K, Piening B, Rost H, Tse D, McLaughlin T, Sodergren E, Weinstock GM, Snyder M. Zhou W, et al. Among authors: rego s. Nature. 2019 May;569(7758):663-671. doi: 10.1038/s41586-019-1236-x. Epub 2019 May 29. Nature. 2019. PMID: 31142858 Free PMC article.
Candidate variants in TUB are associated with familial tremor.
Sailani MR, Jahanbani F, Abbott CW, Lee H, Zia A, Rego S, Winkelmann J, Hopfner F, Khan TN, Katsanis N, Müller SH, Berg D, Lyman KM, Mychajliw C, Deuschl G, Bernstein JA, Kuhlenbäumer G, Snyder MP. Sailani MR, et al. Among authors: rego s. PLoS Genet. 2020 Sep 21;16(9):e1009010. doi: 10.1371/journal.pgen.1009010. eCollection 2020 Sep. PLoS Genet. 2020. PMID: 32956375 Free PMC article.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. Mendelsohn BA, et al. Among authors: rego s. Am J Med Genet A. 2020 Mar;182(3):513-520. doi: 10.1002/ajmg.a.61450. Epub 2019 Dec 27. Am J Med Genet A. 2020. PMID: 31880405 Free PMC article.
Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium.
Suckiel SA, O'Daniel JM, Donohue KE, Gallagher KM, Gilmore MJ, Hendon LG, Joseph G, Lianoglou BR, Mathews JM, Norton ME, Odgis JA, Poss AF, Rego S, Scollon S, Yip T, Amendola LM. Suckiel SA, et al. Among authors: rego s. J Pers Med. 2021 Mar 13;11(3):202. doi: 10.3390/jpm11030202. J Pers Med. 2021. PMID: 33805616 Free PMC article.
Preference for secondary findings in prenatal and pediatric exome sequencing.
Swanson K, Sparks TN, Lianoglou BR, Chen F, Downum S, Patel S, Rego S, Yip T, Van Ziffle J, Koenig BA, Slavotinek AM, Norton ME. Swanson K, et al. Among authors: rego s. Prenat Diagn. 2022 May;42(6):753-761. doi: 10.1002/pd.5973. Epub 2021 Jun 7. Prenat Diagn. 2022. PMID: 34057224 Free PMC article.
176 results