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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
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: bodian dl. Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486. Nat Commun. 2016. PMID: 26781218 Free PMC article.
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Solomon BD, Bodian DL, Khromykh A, Mora GG, Lanpher BC, Iyer RK, Baveja R, Vockley JG, Niederhuber JE. Solomon BD, et al. Among authors: bodian dl. Am J Med Genet A. 2015 May;167A(5):1111-6. doi: 10.1002/ajmg.a.36883. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712426
53 results