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Clinical genomic database.
Solomon BD, Nguyen AD, Bear KA, Wolfsberg TG. Solomon BD, et al. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9851-5. doi: 10.1073/pnas.1302575110. Epub 2013 May 21. Proc Natl Acad Sci U S A. 2013. PMID: 23696674 Free PMC article.
Evidence for SHH as a candidate gene for encephalocele.
Bear KA, Solomon BD, Roessler E, Alvarez DEP, Kubendran S, O'Hara M, Muenke M. Bear KA, et al. Among authors: solomon bd. Clin Dysmorphol. 2012 Jul;21(3):148-151. doi: 10.1097/MCD.0b013e3283518eb0. Clin Dysmorphol. 2012. PMID: 22354285 Free PMC article. No abstract available.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Solomon BD, et al. J Med Genet. 2012 Jul;49(7):473-9. doi: 10.1136/jmedgenet-2012-101008. J Med Genet. 2012. PMID: 22791840
Applying Genomic Analysis to Newborn Screening.
Solomon BD, Pineda-Alvarez DE, Bear KA, Mullikin JC, Evans JP; NISC Comparative Sequencing Program. Solomon BD, et al. Mol Syndromol. 2012 Aug;3(2):59-67. doi: 10.1159/000341253. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23112750 Free PMC article.
Clinical geneticists' views of VACTERL/VATER association.
Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Solomon BD, et al. Am J Med Genet A. 2012 Dec;158A(12):3087-100. doi: 10.1002/ajmg.a.35638. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165726 Free PMC article. Review.
An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.
Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N. Solomon BD, et al. J Pediatr. 2014 Mar;164(3):451-7.e1. doi: 10.1016/j.jpeds.2013.10.086. Epub 2013 Dec 12. J Pediatr. 2014. PMID: 24332453 Free PMC article. Review. No abstract available.
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M. Bear KA, et al. Among authors: solomon bd. J Med Genet. 2014 Jun;51(6):413-8. doi: 10.1136/jmedgenet-2013-102249. Epub 2014 Apr 17. J Med Genet. 2014. PMID: 24744436 Free PMC article.
A 2.5-year snapshot of Mendelian discovery.
Solomon BD, Lee T, Nguyen AD, Wolfsberg TG. Solomon BD, et al. Mol Genet Genomic Med. 2016 Apr 3;4(4):392-4. doi: 10.1002/mgg3.221. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27468415 Free PMC article. No abstract available.
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: solomon bd. 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.
197 results