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A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Pineda-Alvarez DE, Solomon BD, Roessler E, Balog JZ, Hadley DW, Zein WM, Hadsall CK, Brooks BP, Muenke M. Pineda-Alvarez DE, et al. Among authors: hadley dw. Am J Med Genet A. 2011 Nov;155A(11):2713-20. doi: 10.1002/ajmg.a.34261. Epub 2011 Oct 4. Am J Med Genet A. 2011. PMID: 21976454 Free PMC article.
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Doherty ES, et al. Among authors: hadley dw. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. doi: 10.1002/ajmg.a.32078. Am J Med Genet A. 2007. PMID: 18000976
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. Lacbawan F, et al. Among authors: hadley d. J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2. J Med Genet. 2009. PMID: 19346217 Free PMC article.
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M. Solomon BD, et al. J Med Genet. 2010 Aug;47(8):513-24. doi: 10.1136/jmg.2009.073049. Epub 2009 Dec 2. J Med Genet. 2010. PMID: 19955556 Free PMC article.
Long-term outcomes of adults with features of VACTERL association.
Raam MS, Pineda-Alvarez DE, Hadley DW, Solomon BD. Raam MS, et al. Among authors: hadley dw. Eur J Med Genet. 2011 Jan-Feb;54(1):34-41. doi: 10.1016/j.ejmg.2010.09.007. Epub 2010 Oct 1. Eur J Med Genet. 2011. PMID: 20888933 Free PMC article.
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.
Solomon BD, Pineda-Alvarez DE, Hadley DW, Keaton AA, Agochukwu NB, Raam MS, Carlson-Donohoe HE, Kamat A, Chandrasekharappa SC. Solomon BD, et al. Among authors: hadley dw. Birth Defects Res A Clin Mol Teratol. 2011 Sep;91(9):862-5. doi: 10.1002/bdra.20821. Epub 2011 May 23. Birth Defects Res A Clin Mol Teratol. 2011. PMID: 21608104 Free PMC article.
Personalized genomic medicine: lessons from the exome.
Solomon BD, Pineda-Alvarez DE, Hadley DW, NISC Comparative Sequencing Program, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Blakesley RW, Lanpher B, Mayfield Gibson S, Sincan M, Chandrasekharappa SC, Mullikin JC. Solomon BD, et al. Among authors: hadley dw. Mol Genet Metab. 2011 Sep-Oct;104(1-2):189-91. doi: 10.1016/j.ymgme.2011.06.022. Epub 2011 Jul 5. Mol Genet Metab. 2011. PMID: 21767969 Free PMC article.
Incidental medical information in whole-exome sequencing.
Solomon BD, Hadley DW, Pineda-Alvarez DE; NISC Comparative Sequencing Program; Kamat A, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Berkman BE, Chandrasekharappa SC, Mullikin JC. Solomon BD, et al. Among authors: hadley dw. Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14. Pediatrics. 2012. PMID: 22585771 Free PMC article.
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