Jean-Jacques Cassiman

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Genetics D-index 58 Citations 10,035 295 World Ranking 2551 National Ranking 37

Best Publications

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Harry Cuppens;Wei Lin;Martine Jaspers;B Costes.
Journal of Clinical Investigation (1998)

539 Citations

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Gert Matthijs;E Schollen;Els Pardon;M Veiga-Da-Cunha.
Nature Genetics (1997)

383 Citations

Primary amines inhibit recycling of α2M receptors in fibroblasts

Freddy Van Leuven;Jean-Jacques Cassiman;Herman Van den Berghe.
Cell (1980)

281 Citations

Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers

Pascal Borry;Loes Stultiëns;Herman Nys;Jean-Jacques Cassiman.
Clinical Genetics (2006)

259 Citations

Quadriceps and Grip Strength Are Related to Vitamin D Receptor Genotype in Elderly Nonobese Women

Piet Geusens;Caroline Vandevyver;Johan Vanhoof;Jean-Jacques Cassiman.
Journal of Bone and Mineral Research (1997)

245 Citations

Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective.

Béatrice Godard;Béatrice Godard;Jörg Schmidtke;Jean-Jacques Cassiman;Ségolène Aymé.
European Journal of Human Genetics (2003)

221 Citations

Established cell lines used in cystic fibrosis research.

D C Gruenert;D C Gruenert;M Willems;Jean-Jacques Cassiman;R A Frizzell.
Journal of Cystic Fibrosis (2004)

219 Citations

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Gert Matthijs;Els Schollen;Emile Van Schaftingen;Jean-Jacques Cassiman.
American Journal of Human Genetics (1998)

200 Citations

Non-Syndromic Deafness Associated with a Mutation and a Polymorphism in the Mitochondrial 12S Ribosomal RNA Gene in a Large Zairean Pedigree

Gert Matthijs;Stephan Claes;Benjamin Longo-Mbenza;Jean-Jacques Cassiman.
European Journal of Human Genetics (1996)

158 Citations

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

W. Robberecht;T. Aguirre;L. Van Den Bosch;P. Tilkin.
Neurology (1996)

158 Citations

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Jean-Jacques Cassiman

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

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