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- A.B., Western Maryland College, 1959
- Ph.D., University of Maryland, 1963
Throughout my 36 years at The Kennedy Krieger Institute (KKI) and The Johns Hopkins University, my main teaching, research and clinical interests have been in the area of medical genetics with particular focus on cytogenetic abnormalities and inborn errors of metabolism associated with developmental abnormalities, subnormal mental capacity and/or degenerative disorders. Much of my work has been directed towards obtaining an understanding of the genetic and/or biochemical alterations associated with (and presumptively responsible for) handicapping conditions in children. In addition to my own interests, the KKI Genetics Laboratory provides a variety of specialized techniques required for genetic studies for the clinical staffs of the Johns Hopkins Hospital and the KKI. Currently, the Genetics Laboratory is utilizing cytogenetic techniques to identify small chromosomal abnormalities (microdeletions, translocations, duplications, etc.) that appear to be associated with specific types of physical and/or mental abnormalities. Once such chromosomal abnormalities are identified, they are analyzed and characterized by FISH analyses. A computer search of various public data bases is then carried out to identify candidate genes that might be disturbed by the chromosomal abnormalities in question. Once such genes are identified, molecular investigations are undertaken to determine if, in fact, there is evidence to support or rule out the involvement of the particular genes of interest.
- Biochemical genetics
- Inborn errors of metabolism
- Clinical cytogenetics
- Molecular cytogenetics
Kennedy Krieger Institute
- Board Certification: American Board of Human Genetics in Clinical Cytogenetics and Clinical Biochemical Genetics American College of Medical Genetics
- Clinical Interests: College of Medical Genetics
KKI Genetics Laboratories
Phone: (410) 502-9333
- Faculty, Johns Hopkins University Medical Genetics Residency and Clinical Genetics Fellowship Programs
- Preceptor, Predoctoral Training Program in Human Genetics
- Preceptor, Medical Genetics Training Program
- Preceptor, Kennedy Krieger Institute Training Program in Developmental Disabilities
Boyadjiev SA, South ST, Radford CL, Patel A, Zhang G, Hur D, Thomas GH, Gearhart JP, Stetten G: A reciprocal translocation 46, XY, t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAPS and presents evidence of a pericentromeric duplication on chromosome 9, Genomics 85: 622-629, 2005.
Ting JC, Thomas GH, Ruczinski I, Pevsner J. Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan. BMC Bioinformatics 7(1) 25, 2006.
Loeys, BL, Schwarze U, Holm BL, Callewaert BL Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts A. Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Braverman AC, Byers PH, De Paepe AM, Dietz, HC. Presentation, natural history and management of aneurysm syndromes caused by mutations in TGFBR1 or TGFBR2 encoding for transforming growth factor –B receptors. N. Engl. J Med 355: 788-798, 2006.
Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill BR, Easterday MC, Staaf J, Oseth L,Czapansky-Beilman D, Avramopoulos D, Thomas GH, Borg A, Valle D, Schimmenti LA, Selleck SB. Recurrent 10q22-q23 deletions on 10q associated with cognitive and behavioral abnormalities. Am. J Hum Genet. 80: 938-947, 2007.
Ting JC, Roberson EDO, Miller N, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Human Mutation 28 1225-1235, 2007.
Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DAS. 3q29 interstitial microduplication: A new syndrome in a three- generation-family. American J. Medical Genetics A 146: 601-609, 2008.
Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C,Batista DAS, Thomas GH. Molecular cytogenetic analysis of a de novo interstitial deletion of chromosomal 10q (q25.3q26.13) in a male child with ambiguous genitalia: evidence for a new critical region for genital development. American J. Medical Genetics A 146: 2293 –2297, 2008.
Yonescu R,Hristov AC,Ahmad A,Overby A, Thomas GH, Griffin CA. Cytogenetic characterization of natural killer cell leukemia. Cancer Genetics and Cytogenetics 183: 125-130, 2008.
Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM. Congenital T cell deficiency in a patient with CHARGE syndrome: J. Pediatrics 154: 140-142, 2009.
Miller ND, Nance MA, Wohler EE, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J: Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes hearing and vestibular function. America J. Medical Genetics A 149: 669-680, 2009.
George H Thomas, Ph.D.
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
Phone: (443) 923-2768
Fax: (443) 923-2775