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Page 1
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.
Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N. Mavura Y, et al. Among authors: devine wp. medRxiv [Preprint]. 2023 May 24:2023.05.19.23290066. doi: 10.1101/2023.05.19.23290066. medRxiv. 2023. PMID: 37293051 Free PMC article. Preprint.
EML4::ALK fusions in complex lymphatic malformations.
Apsel Winger B, Devine WP, Hsiao EC, Zapala M, Van Ziffle J, Gupta N, Frieden IJ, Shimano KA. Apsel Winger B, et al. Among authors: devine wp. Pediatr Blood Cancer. 2023 Jun 28:e30516. doi: 10.1002/pbc.30516. Online ahead of print. Pediatr Blood Cancer. 2023. PMID: 37377128
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: devine wp. 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.
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: devine wp. 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.
Clinical implementation of preemptive pharmacogenomics testing for personalized medicine at an academic medical center.
Tamraz B, Shin J, Khanna R, Van Ziffle J, Knowles S, Stregowski S, Wan E, Kamath R, Collins C, Phunsur C, Tsai B, Kong P, Calanoc C, Pollard A, Sawhney R, Pleiman J, Devine WP, Croci R, Sashikanth A, Kroon L, Cucina R, Rajkovic A. Tamraz B, et al. Among authors: devine wp. J Am Med Inform Assoc. 2024 Dec 12:ocae293. doi: 10.1093/jamia/ocae293. Online ahead of print. J Am Med Inform Assoc. 2024. PMID: 39665424
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA, Ravindranathan A, Gupta R, Stevers NO, Suwala AK, Hong C, Kim S, Yuan JB, Wu J, Barreto J, Lucas CG, Chan E, Pekmezci M, LeBoit PE, Mully T, Perry A, Bollen A, Van Ziffle J, Devine WP, Reddy AT, Gupta N, Basnet KM, Macaulay RJB, Malafronte P, Lee H, Yong WH, Williams KJ, Juratli TA, Mata DA, Huang RSP, Hiemenz MC, Pavlick DC, Frampton GM, Janovitz T, Ross JS, Chang SM, Berger MS, Jacques L, Song JS, Costello JF, Solomon DA. Williams EA, et al. Among authors: devine wp. Neuro Oncol. 2023 Dec 8;25(12):2221-2236. doi: 10.1093/neuonc/noad121. Neuro Oncol. 2023. PMID: 37436963 Free PMC article.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: devine wp. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
39 results