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Jules G. Leroy

Publications by Year

Research Areas

Lysosomal Storage Disorders Research, Connective tissue disorders research, Genomic variations and chromosomal abnormalities, Archaeology and Historical Studies, Prenatal Screening and Diagnostics

Most-Cited Works

→ Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux(2004)364 cited
→ Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts(1967)244 cited
→ Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5(2014)214 cited
→ I-Cell Disease: Biochemical Studies(1972)213 cited
→ Mutations in different components of FGF signaling in LADD syndrome(2006)209 cited
→ Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy(2012)188 cited

→ Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum(1998)

184 cited

→ Tay-Sachs Disease: Prenatal Diagnosis(1971)174 cited

→ I-cell disease: A clinical picture(1971)167 cited

→ Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients(2010)150 cited