Jean‐Jacques Cassiman

KU Leuven — Belgium

Medicine · Health Sciences

17h-index990citations23works0.02yr avg
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Research Topics

Cystic Fibrosis Research Advances(10), Neonatal Respiratory Health Research(6), Ion Transport and Channel Regulation(4), Glycosylation and Glycoproteins Research(3), Genomics and Rare Diseases(3)

Publications23 total

Mutation (variation) databases and registries: a rationale for coordination of efforts
Nature Reviews Genetics·2011· 17 citedOpen Access
The medical geneticist as expert in the transgenerational and developmental aspects of diseases
European Journal of Human Genetics·2010· 5 citedOpen Access
Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
Journal of Cystic Fibrosis·2010· 85 citedOpen Access
Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms
CHEST Journal·2008· 31 citedOpen Access
Cystic Fibrosis Is Associated with a Defect in Apical Receptor–Mediated Endocytosis in Mouse and Human Kidney
Journal of the American Society of Nephrology·2007· 101 citedOpen Access
Towards quality assurance and harmonization of genetic testing services in the European Union
Nature Biotechnology·2004· 58 cited
Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression
Biochemical and Biophysical Research Communications·2003· 7 cited
The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions
Journal of Cystic Fibrosis·2002· 180 citedOpen Access
Different activation mechanisms of cystic fibrosis transmembrane conductance regulator expressed in Xenopus laevis oocytes
Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology·2001· 6 cited
Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette
European Journal of Human Genetics·2001· 34 citedOpen Access
Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR
FEBS Letters·2000· 22 cited
Morphological changes in the vas deferens and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in control, ?F508 and knock-outCFTR mice during postnatal life
Molecular Reproduction and Development·2000· 38 cited
Epistatic effects of genes encoding tumor necrosis factor-α, immunoglobulin allotypes, and HLA antigens on susceptibility to non-insulin-dependent (type 2) diabetes mellitus
Immunogenetics·1999· 12 cited
Inhibition of volume‐regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator
The Journal of Physiology·1999· 58 citedOpen Access
Characterization of mutations located in exon 18 of the <i>CFTR</i> gene
FEBS Letters·1998· 39 cited
Prenatal diagnosis in CDG1 families: beware of heterogeneity
European Journal of Human Genetics·1998· 41 citedOpen Access
Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene
Human Mutation·1998· 26 cited
PMM (PMM1), the Human Homologue ofSEC53or Yeast Phosphomannomutase, Is Localized on Chromosome 22q13
Genomics·1997· 67 citedOpen Access
The Sp1 transcription factor gene (SP1) and the 1,25-dihydroxyvitamin D3 receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7
Genomics·1991· 92 cited
Human and rat chromosomal localization of two genes for 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase by analysis of somatic cell hybrids and in situ hybridization
Genomics·1991· 20 cited
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Frequent Co-authors

Harry Cuppens(8), Anne Vankeerberghen(5), Gert Matthijs(3), Martine Jaspers(3), Bob J. Scholte(2), Garry R. Cutting(2), Elisabeth Dequeker(2), Els Schollen(2), Emile Van Schaftingen(2), Bernd Nilius(2), Lin Wei(2), Peter Marynen(2), Herman Van den Berghe(2), Bernd Nilius(2), FrancCOMBINING CEDILLAois Jouret(1), Alfred Bernard(1), Cédric Hermans(1), Geert Dom(1), Sara Terryn(1), Teresinha Leal(1)