G. Thomas

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Genomic insight into the amino acid relations of the pea aphid, Acyrthosiphon pisum, with its symbiotic bacterium Buchnera aphidicola

S. Colella, A. Wilson, P. Ashton, 2010, Insect molecular biology.

Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1‐21.1

E. Jabs, A. Hamosh, J. Hoover-Fong, 2003, American journal of medical genetics. Part A.

Prenatal diagnosis of xeroderma pigmentosum and cockayne syndrome

W. C. Charles, J. Cleaver, J. Volpe, 1994, Prenatal diagnosis.

Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

V. Praphanphoj, M. Dixon, C. Toomes, 2000, Genomics.

Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.

N. Nowak, T. Shows, C. Junien, 1988, Science.

Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease).

G. Thomas, K. K. Lie, H. A. Taylor, 1973, Clinica chimica acta; international journal of clinical chemistry.

Accumulation of N-acetylneuraminic acid (sialic acid) in human fibroblasts cultured in the presence of N-acetylmannosamine.

G. Thomas, J. Scocca, L. Reynolds, 1985, Biochimica et biophysica acta.

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]

S. Antonarakis, G. Thomas, E. Mules, 1986, Human Genetics.

Overproduction of N-Acetylneuraminic Acid (Sialic Acid) by Sialuria Fibroblasts

G. Thomas, L. Reynolds, C. Miller, 1985, Pediatric Research.

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

S. Selleck, Å. Borg, D. Avramopoulos, 2007, American journal of human genetics.

Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene.

V. Praphanphoj, S. Gould, M. Geraghty, 2001, Molecular genetics and metabolism.

A mutation common in non‐jewish Tay–Sachs disease: Frequency and RNA studies

J. Zieleński, M. Natowicz, J. Clarke, 1992, Human mutation.

Xeroderma pigmentosum variants have a slow recovery of DNA synthesis after irradiation with ultraviolet light.

J. Cleaver, G. Thomas, S. Park, 1979, Biochimica et biophysica acta.

Biological Damage from Intranuclear Tritium: DNA Strand Breaks and Their Repair

J. Cleaver, G. Thomas, H. Burki, 1972, Science.

Clinical syndromes associated with DNA repair deficiency and enhanced sun sensitivity.

J. Cleaver, G. Thomas, 1993, Archives of dermatology.

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

G. Thomas, S. Hayflick, E. Mules, 1992, American journal of human genetics.

Single strand interruptions in DNA and the effects of caffeine in Chinese hamster cells irradiated with ultraviolet light.

J. Cleaver, G. Thomas, J. E. Cleaver, 1969, Biochemical and biophysical research communications.

Cytogenetic characterization of natural killer cell leukemia.

Amy T. Overby, C. Griffin, Aaminah Ahmad, 2008, Cancer genetics and cytogenetics.

Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.

S. Milstien, S. Kaufman, G. Thomas, 1976, The Journal of pediatrics.

Alterations in Cultured Fibroblasts of Sibs with an Infantile Form of a Free (Unbound) Sialic Acid Storage Disorder

G. Thomas, J. Scocca, L. Reynolds, 1983, Pediatric Research.

Therapy of urea cycle enzymopathies: three case studies.

S. Brusilow, M. Painter, M. Batshaw, 1981, The Johns Hopkins medical journal.

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.

H. Kazazian, M. Petersen, G. Thomas, 1991, American journal of human genetics.

"Pseudodeficiencies" of lysosomal hydrolases.

G. Thomas, 1994, American journal of human genetics.

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

D. Valle, A. Hamosh, N. Sobreira, 2011, Genome research.

Restriction enzyme cleavage of ultraviolet-damaged DNA.

J. Cleaver, G. Thomas, L. Samson, 1982, Biochimica et biophysica acta.

Early manifestations of multiple sulfatase deficiency.

H. Moser, A. Moser, R. Burk, 1984, The Journal of pediatrics.

Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma.

D. F. Schwarz, I. Kirsch, G. Bolger, 1985, The New England journal of medicine.

Unusual supernumerary chromosomes: types encountered in a referred population, and high incidence of associated maternal chromosome abnormalities

G. Thomas, J. Stamberg, 1986, Human Genetics.

Complex chromosome rearrangements:Report of a new case and literature review

B. Migeon, G. Thomas, G. Pai, 1980, Clinical genetics.

Quantltatlon of Urinary GAGs and Resolution of Dermatan Sulfate from Urine of a Patient with Hunter Syndrome

H. Moser, R. Burlingame, G. Thomas, 2004 .

Direct quantitation of glycosaminoglycans in 2 mL of urine from patients with mucopolysaccharidoses.

H. Moser, R. Burlingame, G. Thomas, 1981, Clinical chemistry.

Nonuniform Deficiency of Hexosaminidase A in Tissues and Fluids of Two Unrelated Individuals

H. Kazazian, G. Thomas, J. O'brien, 1982, Pediatric Research.

New approaches to the diagnosis and treatment of inborn errors or urea synthesis.

S. Brusilow, M. Batshaw, G. Thomas, 1981, Pediatrics.

Disturbances in DNA precursor metabolism associated with exposure to an inhibitor of poly(ADP-ribose) synthetase.

K. Milam, J. Cleaver, G. Thomas, 1986, Experimental cell research.

A novel variant three-way translocation of inversion 16 in a case of AML-M4eo following low dose methotrexate therapy.

M. Borowitz, G. Thomas, S. Li, 2001, Cancer genetics and cytogenetics.

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

Ankita Patel, M. Geraghty, C. Jakobs, 2002, Molecular Genetics and Metabolism.

Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome.

G. Thomas, P. Benke, G. Pai, 1981, Journal of medical genetics.

Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis.

G. Thomas, 1969, The Journal of laboratory and clinical medicine.

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

George H. Thomas, Julie De Backer, Paul Coucke, 2006 .

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).

X. Chen, J. Korenberg, M. Geraghty, 2000, American journal of medical genetics.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

P. Byers, D. Milewicz, H. Dietz, 2006, The New England journal of medicine.

Arginine-responsive asymptomatic hyperammonemia in the premature infant.

S. Brusilow, M. Batshaw, R. Wachtel, 1984, The Journal of pediatrics.

Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.

G. Capone, G. Thomas, B. Goodman, 1997, American journal of medical genetics.

Treatment of thecbl B form of methylmalonic acidaemia with adenosylcobalamin

M. Batshaw, G. Thomas, M. Mahoney, 1984, Journal of Inherited Metabolic Disease.

Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

S. Brusilow, P. Arn, G. Thomas, 1990, The New England journal of medicine.

Sister chromatid exchange in xeroderma pigmentosum cells that are defective in DNA excision repair or post-replication repair.

S. Wolff, J. Cleaver, G. Thomas, 1975, Genetics.

A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.

W. C. Charles, J. Cleaver, G. Thomas, 1995, Human molecular genetics.

Behavioral and Neurotransmitter Changes in the Urease-Infused Rat: A Model of Congenital Hyperammonemia

J. Coyle, E. Mellits, S. Hyman, 1986, Pediatric Research.

Accumulation of [3H]Sialyl-conjugates in sialidosis (sialidase-deficient) fibroblasts cultured in the presence of [3H]-N-acetylmannosamine

G. Thomas, J. Scocca, L. Reynolds, 1986, Journal of Inherited Metabolic Disease.

Photoreactivation of thymine dimers in UV-irradiated human cells: unique dependence on culture conditions.

K. Mortelmans, E. Friedberg, M. Paterson, 1977, Mutation research.

Excision repair (dimer excision, strand breakage and repair replication) in primary cultures of eukaryotic (bovine) cells.

J. Trosko, J. Lett, J. Cleaver, 1972, Experimental cell research.

Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

J. Hecht, J. Cleaver, G. Thomas, 1992, American journal of human genetics.

Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

G. Thomas, S. Hayflick, R. Gravel, 1992, Human mutation.

Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria.

J. C. Parke, J. Coyle, S. Hyman, 1986, The Journal of pediatrics.

A severe infantile sialidosis: clinical, biochemical, and microscopic features.

A. Aylsworth, G. Thomas, N. Malouf, 1980, The Journal of pediatrics.

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.

G. Thomas, G. Tiller, L. Reynolds, 1976, Biochemical and biophysical research communications.

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease

A. Capute, M. Batshaw, G. Thomas, 1975, Clinical genetics.

Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia

R. Wanders, R. Schutgens, G. Thomas, 1988, Journal of Inherited Metabolic Disease.

Evidence for removal at different rates of O-ethyl pyrimidines and ethylphosphotriesters in two human fibroblast cell lines.

J. Cleaver, W. Bodell, G. Thomas, 1979, Nucleic acids research.

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.

Julie R Korenberg, J. Korenberg, G. Semenza, 2002, American journal of medical genetics.

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

K. Doheny, G. Raymond, H. McDermid, 1997, Journal of medical genetics.

Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins.

G. Semenza, K. Doheny, M. Schwartz, 1997, American journal of medical genetics.

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

E. Jabs, M. Geraghty, J. Rutberg, 1999, American journal of medical genetics.

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

R. Proia, R. Navon, G. Thomas, 1990, American journal of human genetics.

Cryptic subtelomeric translocations in the 22q13 deletion syndrome

G. Raymond, V. Praphanphoj, G. Thomas, 2000, Journal of medical genetics.

3q29 interstitial microduplication: A new syndrome in a three‐generation family

K. Doheny, A. Hamosh, D. Batista, 2008, American journal of medical genetics. Part A.

The marker Xq28 syndrome ("Fragile-X SYndrome") in a retarded man with mitral valve prolapse.

B. Bernhardt, R. Pyeritz, G. Thomas, 1982, The Johns Hopkins medical journal.

Prenatal diagnosis of hemoglobinopathies by restriction endonuclease analysis: pregnancies at risk for sickle cell anemia and S--O Arab disease.

A. F. Scott, H. Kazazian, G. Stetten, 1979, The Johns Hopkins medical journal.

A deletion map of the WAGR region on chromosome 11.

C. Junien, M. Gessler, G. Bruns, 1989, American journal of human genetics.

Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

A. Pulver, M. Geraghty, J. Rutberg, 2000, Journal of Inherited Metabolic Disease.

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

Nathaniel D. Miller, J. Pevsner, J. Hoover-Fong, 2009, American journal of medical genetics. Part A.

Chromosome studies in 10 patients with the Rett syndrome.

G. Thomas, S. Naidu, J. Moore, 1986, American journal of medical genetics. Supplement.

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

J. Hoover-Fong, D. Batista, N. Braverman, 2008, American journal of medical genetics. Part A.

C-group chromosome abnormality (? 10p-). Occurrence in a child with multiple malformations.

G. Thomas, F. Richardson, C. Condron, 1970, American journal of diseases of children.

Developmental Abnormalities Associated with a Ring Chromosome 6

G. Thomas, C. Moore, R. H. Heller, 1973, Journal of medical genetics.

Genomic analysis of partial 21q monosomies with variable phenotypes

Elisha D O Roberson, A. Hamosh, J. Pevsner, 2011, European Journal of Human Genetics.

Defective thymine dimer excision by cell-free extracts of xeroderma pigmentosum cells.

K. Mortelmans, E. Friedberg, J. Cleaver, 1976, Proceedings of the National Academy of Sciences of the United States of America.

Evidence for a defect in thymine dimer excision in extracts of Xeroderma pigmentosum cells

K. Mortelmans, E. Friedberg, J. Cleaver, 1977 .

Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells

G. Thomas, L. Reynolds, C. Miller, 1973, Pediatric Research.

Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.

W. Sly, V. McKusick, M. Bull, 1975, The Johns Hopkins medical journal.

Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells

G. Thomas, D. Siggers, T. Kelly, 1973, Clinical genetics.

Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media

G. Thomas, C. Tuck-Muller, L. Reynolds, 1989, Journal of Inherited Metabolic Disease.

Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

A. Varki, M. Reitman, A. Vannier, 1982, American journal of human genetics.

Characterization of neuraminidase activity of cultured human fibroblasts.

G. Thomas, L. Reynolds, C. Miller, 1979, Biochimica et biophysica acta.

Pseudodeficiency of α-iduronidase

G. Thomas, H. A. Taylor, 1993, Journal of Inherited Metabolic Disease.

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.

S. South, Ankita Patel, G. Stetten, 2005, Genomics.

Impaired Cerebroside Sulfate Hydrolysis in Fibroblasts of Sibs with “Pseudo” Arylsulfatase A Deficiency without Metachromatic Leukodystrophy

H. Moser, A. Fluharty, G. Thomas, 1983, Pediatric Research.

Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings

G. Strecker, G. Thomas, E. Vamos, 1982, European Journal of Pediatrics.

Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria.

R. Stevenson, T. Parmley, R. Howell, 1971, American journal of obstetrics and gynecology.

Hyperp hen y lalaninemia reductase deficiency due to dihydropteridine

S. Milstien, S. Kaufman, G. Thomas, 1976 .

Histidinemia in a Negro child.

R. Howell, M. Kappelman, G. Thomas, 1971, American journal of diseases of children.

Partial trisomy 4q resulting from a familial 4/3 translocation.

R. Haslam, G. Thomas, T. Kelly, 1979, Southern medical journal.

Sensitization of mouse L cells to ultraviolet light by low amounts of bromodeoxyuridine.

J. Cleaver, G. Thomas, M. Maloney, 1982, Radiation research.

Occurrence of a presumptive C-B translocation carrier [46,XY,t (? Cp-; Bp+)] in a family of D-G translocation carriers [45,D-,G-,t (DqGq)+].

G. Thomas, W. Bias, 1969, Journal of medical genetics.

Interstitial deletion of chromosome 2q32‐34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)

A. Hamosh, M. Summar, G. Thomas, 2004, American journal of medical genetics. Part A.

Rapid diagnosis of sensitivity to ultraviolet light in fibroblasts from dermatologic disorders, with particular reference to xeroderma pigmentosum.

J. Cleaver, G. Thomas, Gregory H. Thomas, 1988, The Journal of investigative dermatology.

High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.

G. Thomas, George H. Thomas, 1996, American journal of human genetics.

Neuraminidase deficiency in the original patient with the Goldberg Syndrome

M. Goldberg, G. Thomas, L. Reynolds, 1979, Clinical genetics.

A new R-banding technique in clinical cytogenetics

G. Thomas, G. Pai, 1980, Human Genetics.

The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia

A. Hamosh, V. Praphanphoj, N. Braverman, 2003, Journal of Inherited Metabolic Disease.

Sister chromatid exchanges in cells defective in mismatch, post-replication and excision repair.

J. Cleaver, J. Volpe, G. Thomas, 1995, Mutagenesis.

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

Ingo Ruczinski, Jonathan Pevsner, Elisha D O Roberson, 2007, Human mutation.

Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents.

A. Aylsworth, G. Thomas, C. M. Stuart, 1976, The Journal of pediatrics.

Cancer in relatives of leukemic patients with chromosomal rearrangements at rare (heritable) fragile-site locations in their malignant cells.

B. Cohen, J. Testa, H. Abbey, 1989, American journal of human genetics.

Chromosomal disorders: background and neuroradiology.

A. J. Kumar, A. Reiss, T. Naidich, 1992, AJNR. American journal of neuroradiology.

Mannosidosis: Deficiency of a specific α-mannosidase component in cultured fibroblasts

R. Stevenson, A. Aylsworth, G. Thomas, 1975 .

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.

G. Thomas, N. Wakamatsu, R. Gravel, 1994, Human molecular genetics.

Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

Jason C. Ting, Ying Ye, George H. Thomas, 2006, BMC Bioinformatics.