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Page 1
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.
Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M. Keaton AA, et al. Mol Syndromol. 2010;1(5):211-222. doi: 10.1159/000328203. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22125506 Free PMC article.
Analysis of genotype-phenotype correlations in human holoprosencephaly.
Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. Solomon BD, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104608 Free PMC article. Review.
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.
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.
Solomon BD, Pineda-Alvarez DE, Hadley DW, Hansen NF, Kamat A, Donovan FX, Chandrasekharappa SC, Hong SK, Roessler E, Mullikin JC; NISC Comparative Sequencing Program. Solomon BD, et al. Among authors: pineda alvarez de. Mol Syndromol. 2013 Feb;4(1-2):27-31. doi: 10.1159/000345406. Mol Syndromol. 2013. PMID: 23653574 Free PMC article.
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M. Roessler E, et al. Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090. Hum Mutat. 2009. PMID: 19603532 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.
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