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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: solomon bd. 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.
Analysis of renal anomalies in VACTERL association.
Cunningham BK, Khromykh A, Martinez AF, Carney T, Hadley DW, Solomon BD. Cunningham BK, et al. Among authors: solomon bd. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):801-5. doi: 10.1002/bdra.23302. Epub 2014 Sep 5. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25196458 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: solomon bd. 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.
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program; Gahl WA, Gunay-Aygun M. Malicdan MC, et al. Among authors: solomon bd. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18. J Med Genet. 2015. PMID: 26386044 Free PMC article.
The Benefits of Whole-Genome Sequencing Now and in the Future.
Khromykh A, Solomon BD. Khromykh A, et al. Among authors: solomon bd. Mol Syndromol. 2015 Sep;6(3):108-9. doi: 10.1159/000438732. Epub 2015 Aug 13. Mol Syndromol. 2015. PMID: 26778943 Free PMC article. No abstract available.
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: solomon bd. Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486. Nat Commun. 2016. PMID: 26781218 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. Among authors: solomon bd. Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Nat Genet. 2016. PMID: 27322544
196 results