Colette Rossier
University of Geneva(CH)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Epigenetics and DNA Methylation, Cystic Fibrosis Research Advances
Most-Cited Works
- → Uncoupling protein‐3: a new member of the mitochondrial carrier family with tissue‐specific expression(1997)1,049 cited
- → GENCODE: producing a reference annotation for ENCODE(2006)648 cited
- → Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia(2002)359 cited
- → Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy(1997)357 cited
- → Cloning of the TMPRSS2 Gene, Which Encodes a Novel Serine Protease with Transmembrane, LDLRA, and SRCR Domains and Maps to 21q22.3(1997)274 cited
- → Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations(2007)238 cited
- → Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness(2001)234 cited
- → Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity(1998)215 cited
- → Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs)(2003)198 cited
- → The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations(1999)185 cited