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Genomic and molecular characterization of preterm birth.
Knijnenburg TA, Vockley JG, Chambwe N, Gibbs DL, Humphries C, Huddleston KC, Klein E, Kothiyal P, Tasseff R, Dhankani V, Bodian DL, Wong WSW, Glusman G, Mauldin DE, Miller M, Slagel J, Elasady S, Roach JC, Kramer R, Leinonen K, Linthorst J, Baveja R, Baker R, Solomon BD, Eley G, Iyer RK, Maxwell GL, Bernard B, Shmulevich I, Hood L, Niederhuber JE. Knijnenburg TA, et al. Among authors: vockley jg. Proc Natl Acad Sci U S A. 2019 Mar 19;116(12):5819-5827. doi: 10.1073/pnas.1716314116. Epub 2019 Mar 4. Proc Natl Acad Sci U S A. 2019. PMID: 30833390 Free PMC article.
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Stittrich AB, et al. Among authors: vockley jg. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14. Am J Hum Genet. 2014. PMID: 25132448 Free PMC article.
Identification of copy number variants in whole-genome data using Reference Coverage Profiles.
Glusman G, Severson A, Dhankani V, Robinson M, Farrah T, Mauldin DE, Stittrich AB, Ament SA, Roach JC, Brunkow ME, Bodian DL, Vockley JG, Shmulevich I, Niederhuber JE, Hood L. Glusman G, et al. Among authors: vockley jg. Front Genet. 2015 Feb 17;6:45. doi: 10.3389/fgene.2015.00045. eCollection 2015. Front Genet. 2015. PMID: 25741365 Free PMC article.
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Bodian DL, Klein E, Iyer RK, Wong WS, Kothiyal P, Stauffer D, Huddleston KC, Gaither AD, Remsburg I, Khromykh A, Baker RL, Maxwell GL, Vockley JG, Niederhuber JE, Solomon BD. Bodian DL, et al. Among authors: vockley jg. Genet Med. 2016 Mar;18(3):221-30. doi: 10.1038/gim.2015.111. Epub 2015 Sep 3. Genet Med. 2016. PMID: 26334177 Free article.
New observations on maternal age effect on germline de novo mutations.
Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, Niederhuber JE. Wong WS, et al. Among authors: vockley jg. Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486. Nat Commun. 2016. PMID: 26781218 Free PMC article.
34 results