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Biblio

Found 12 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
2009
Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM.  2009.  Congenital T cell deficiency in a patient with CHARGE syndrome.. The Journal of pediatrics. 154(1):140-2. Abstract
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.
Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DAS.  2008.  3q29 interstitial microduplication: a new syndrome in a three-generation family.. American journal of medical genetics. Part A. 146A(5):601-9. Abstract
Yonescu R, Hristov AC, Ahmad A, Overby A, Thomas GH, Griffin CA.  2008.  Cytogenetic characterization of natural killer cell leukemia.. Cancer genetics and cytogenetics. 183(2):125-30. Abstract
2007
Ting JC, Roberson EDO, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J.  2007.  Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.. Human mutation. 28(12):1225-35. Abstract
2006
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S et al..  2006.  Aneurysm syndromes caused by mutations in the TGF-beta receptor.. The New England journal of medicine. 355(8):788-98. Abstract
Ting JC, Ye Y, Thomas GH, Ruczinski I, Pevsner J.  2006.  Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.. BMC bioinformatics. 7:25. Abstract
2005
Boyadjiev SA, South ST, Radford CL, Patel A, Zhang G, Hur DJ, Thomas GH, Gearhart JP, Stetten G.  2005.  A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9.. Genomics. 85(5):622-9. Abstract
2002
Goh DLM, Patel A, Thomas GH, Salomons GS, Schor DSM, Jakobs C, Geraghty MT.  2002.  Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).. Molecular genetics and metabolism. 76(3):172-80. Abstract
Cargile CB, Goh DL-M, Goodman BK, Chen X-N, Korenberg JR, Semenza GL, Thomas GH.  2002.  Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.. American journal of medical genetics. 109(2):133-8. Abstract

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