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Found 4 results

2011
Roberson EDO, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J.  2011.  Genomic analysis of partial 21q monosomies with variable phenotypes.. European journal of human genetics : EJHG. 19(2):235-8. Abstract
2010
Sobreira NLM, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM et al..  2010.  Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.. PLoS genetics. 6(6):e1000991. Abstract
2009
Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J.  2009.  Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.. American journal of medical genetics. Part A. 149A(4):669-80. Abstract
2008
Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C, Batista DAS, Thomas GH.  2008.  Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.. American journal of medical genetics. Part A. 146A(17):2293-7.

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