Jinny Szabo

Statistics

Publications

Citations

765

H-Index

Active since

1996

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Johns Hopkins Medicine

Johns Hopkins University

Jinny Szabo is an author at National Human Genome Research Institute specializing in genetics, molecular genetics, and fibroblast growth factor receptor 3 (fgfr3) disorders.

Publications per year

1996–1999

Publications

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Gary A. Bellus, Karin Gaudenz, Elaine H. Zackai et al. · Nature Genetics · 1996 · 320 citations

Medicine, Genetics, Molecular Genetics +14

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

Douglas J. Wilkin, Jinny Szabo, Rhoda Cameron et al. · The American Journal of Human Genetics · 1998 · 227 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

Patricia L. Tavormina, Gary A. Bellus, Melanie K. Webster et al. · The American Journal of Human Genetics · 1999 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein

Nicola C. Ho, Antonello Punturieri, Douglas J. Wilkin et al. · Journal of Bone and Mineral Research · 1999 · 55 citations · Full text

Medicine, Genetics, Molecular Genetics +17

1–4 of 4