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Page 1
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: bodian dl. Front Genet. 2015 Feb 17;6:45. doi: 10.3389/fgene.2015.00045. eCollection 2015. Front Genet. 2015. PMID: 25741365 Free PMC article.
Parent-of-origin-specific signatures of de novo mutations.
Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE. Goldmann JM, et al. Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Nat Genet. 2016. PMID: 27322544
Author Correction: Parent-of-origin-specific signatures of de novo mutations.
Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE. Goldmann JM, et al. Nat Genet. 2018 Nov;50(11):1615. doi: 10.1038/s41588-018-0226-5. Nat Genet. 2018. PMID: 30291356
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: bodian dl. 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: bodian dl. 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.
53 results