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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: van ziffle j. 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.
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. Slavotinek A, et al. Among authors: van ziffle j. Eur J Med Genet. 2017 Oct;60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687524
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: van ziffle j. 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.
Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features.
Afshar AR, Pekmezci M, Bloomer MM, Cadenas NJ, Stevers M, Banerjee A, Roy R, Olshen AB, Van Ziffle J, Onodera C, Devine WP, Grenert JP, Bastian BC, Solomon DA, Damato BE. Afshar AR, et al. Among authors: van ziffle j. Ophthalmology. 2020 Jun;127(6):804-813. doi: 10.1016/j.ophtha.2019.12.005. Epub 2019 Dec 12. Ophthalmology. 2020. PMID: 32139107 Free PMC article.
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine. Sparks TN, et al. Among authors: van ziffle j. N Engl J Med. 2020 Oct 29;383(18):1746-1756. doi: 10.1056/NEJMoa2023643. Epub 2020 Oct 7. N Engl J Med. 2020. PMID: 33027564 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: van ziffle j. 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.
74 results