George H. Thomas, PhD

Professor, Departments of Pediatrics, Pathology Joint Appointment in Medicine Director, Kennedy Krieger Institute Genetics Laboratory
Contact   |     Education   |    Interests   |      Activities   |    Leadership     |      Publications

Education and Training:

• A.B., Western Maryland College, 1959  
  
• Ph.D., University of Maryland, 1963

Main Interests:

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.

Research Interests:

• Biochemical genetics
• Inborn errors of metabolism
• Clinical cytogenetics
• Molecular cytogenetics
• Link:
  Kennedy Krieger Institute

Clinical Activities:

• 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
• Clinic:
  KKI Genetics Laboratories
  Phone:  (410) 502-9333

Educational Activities:

• Faculty, Johns Hopkins University Medical Genetics Residency and Clinical Genetics Fellowship Programs

 Recognition and Leadership Roles:

• Preceptor, Predoctoral Training Program in Human Genetics
• Preceptor, Medical Genetics Training Program
• Preceptor, Kennedy Krieger Institute Training Program in Developmental Disabilities 

Publications:

Praphanphoj V, Goodman BK, Thomas GH, Raymond GV: Crytic subtelomeric translocations in the 22q13 deletion syndrome. J Med Genet 37: 58-61 , 2000. Abstract

Goodman BK, Rutberg J, Li WW, Thomas GH, Geraghty MT: Hyperprolinemia in patients with deletion (22)(q11.2) syndrome. J Inherit Metab Dis 23:847-848, 2000.

Lukong KE, Elsliger M-A, Chang Y, Richard C, Thomas GH, Carey W, Tylki-Szymanski A, Czartoryska B, Buchholz T, Criado G, Palmeri S, Pshezhetskyl AV: Characterization of the molecular defects of lysosomal sialidase in sialidosis patients suggests the structural organizstion of the lysosomal multienzyme complex. Human Mol Genet 12: 1075-1085, 2000. Abstract

Cargile CB, McIntosh I, Clough M, Rutberg J, Yaghmai R, Goodman BK, Chen X-N, Korenberg J R, Thomas GH, Geraghty MT: Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12). Am J Med Genet 92: 328-335 , 2000. Abstract

Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT: Molecular cytyogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epecanthus inversus syndrome (BPES). Genomics 65, 67-69 , 2000. Abstract

Praphanphoj V, Sacksteder KA, Gould SJ, Thomas GH, Geraghty MT: Identification of the a-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. Mol Genet Metab 72:336-342, 2001. Abstract

Li S, Couzi RJ, Thomas GH, Friedman AD, Borowitz MJ: A novel variant three-way translocation of inversion 16 in a case of AML-M4eo following low dose methotrexate therapy. Cancer Genet Cytogenet 125 74-77, 2001. Abstract

Hoover-Fong JE, Geraghty MT, Raymond GC, Thomas GH: Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser. J Inherit Metab Dis 24:415-416, 2001. Abstract

Cargile CB, Goh DL-M, Goodman BK, Chen X-N, Korenberg JR, Semenza GL, Thomas GH: Molecular cytogenetic characterization of subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. Am J Med. Genet In Press, 2002.

Loscalzo ML, Galczynski RL, Hamosh A, Summar M, Chinsky JM and Thomas GH: An interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency). Am J Med Genetics, 128: 311-315, 2004.

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.

Contact Information:

George H Thomas, Ph.D.

Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
Phone: (443) 923-2768
Fax: (443) 923-2775
E-Mail: thomasg@kennedykrieger.org

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