James M. Gabriel

Biochemistry, Genetics and Molecular Biology · Life Sciences

7h-index743citations12works0.02yr avg
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Research Topics

Genetic Syndromes and Imprinting(9), Epigenetics and DNA Methylation(8), Prenatal Screening and Diagnostics(4), Genomic variations and chromosomal abnormalities(2), Genetics and Neurodevelopmental Disorders(2)

Publications12 total

Erratum: Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center (Proceedings of the National Academy of Sciences of the United States of America (December 7, 1999) 96:25 (14430-14435))
2000· 1 cited
Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center
Proceedings of the National Academy of Sciences·1999· 37 citedOpen Access
A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes
Proceedings of the National Academy of Sciences·1999· 121 cited
Imprinting-Mutation Mechanisms in Prader-Willi Syndrome
The American Journal of Human Genetics·1999· 276 citedOpen Access
Report of the fourth international workshop on human chromosome 15 mapping 1997
Cytogenetic and Genome Research·1999· 61 cited
Fourth International Workshop on Human Chromosome 15 Mapping, Genome Database, Baltimore, MD, October 28 1997
1999· 2 cited
A model system to study genomic imprinting of human genes
Proceedings of the National Academy of Sciences·1998· 56 cited
Structure and function correlations at the imprinted mouse Snrpn locus
Mammalian Genome·1998· 39 cited
Clinical spectrum and molecular diagnosis of Angelman and Prader‐Willi syndrome patients with an imprinting mutation
American Journal of Medical Genetics·1997· 3 cited
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
American Journal of Medical Genetics·1997· 141 cited
Multiple Imprinted Genes Associated with Prader-Willi Syndrome and Location of an Imprinting Control Element
Acta geneticae medicae et gemellologiae twin research·1996Open Access
A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region
Human Molecular Genetics·1994· 6 cited

Frequent Co-authors

Robert D. Nicholls(11), Shinji Saitoh(8), Daniel J. Driscoll(6), Peter K. Rogan(5), Todd A. Gray(4), John M. Greally(4), Tohru Ohta(3), Karin Buiting(3), Bernhard Horsthemke(3), Christopher C. Glenn(3), Suzanne B. Cassidy(2), Jeffrey M. Conroy(2), Gabriele Gillessen‐Kaesbach(2), Louise R. Greenswag(2), Ikuko Kondo(2), Katsuko Kuwajima(2), Norio Niikawa(2), Stuart Schwartz(2), James R. Seip(2), Charles A. Williams(2)