Colette Rossier

Overview

Best Publications

• Uncoupling protein‐3: a new member of the mitochondrial carrier family with tissue‐specific expression

  Olivier Boss;Sonia Samec;Ariane Paoloni-Giacobino;Colette Rossier

  1343
  Citations

• GENCODE: producing a reference annotation for ENCODE

  Jennifer Harrow;Adam Frankish;Alexandre Reymond;Alexandre Reymond

  737
  Citations

• In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

  Joëlle Michaud;Feng Wu;Motomi Osato;Gregory M. Cottles

  513
  Citations

• Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

  Maria D. Lalioti;Hamish S. Scott;Catherine Buresi;Colette Rossier

  416
  Citations

• Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

  Lucia Bartoloni;Jean-Louis Blouin;Yanzhen Pan;Corinne Gehrig

  396
  Citations

• Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3

  Ariane Paoloni-Giacobino;Haiming Chen;Manuel C. Peitsch;Colette Rossier

  293
  Citations

• Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)

  Emmanouil T. Dermitzakis;Alexandre Reymond;Nathalie Scamuffa;Catherine Ucla

  288
  Citations

• Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

  Hamish S. Scott;Hamish S. Scott;Jun Kudoh;Marie Wattenhofer;Kazunori Shibuya

  278
  Citations

• Primary Ciliary Dyskinesia Associated With Normal Axoneme Ultrastructure Is Caused by DNAH11 Mutations

  Georg C. Schwabe;Katrin Hoffmann;Niki Tomas Loges;Daniel Birker

  267
  Citations

• Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity

  Hamid Mehenni;Corinne Gehrig;Jun-ichi Nezu;Asuka Oku

  266
  Citations

• 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

  Uppala Radhakrishna;Dorothea Bornholdt;Hamish S. Scott;Uday C. Patel

  236
  Citations

• The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

  Michel Guipponi;Grégoire Vuagniaux;Marie Wattenhofer;Kazunori Shibuya

  227
  Citations

• Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2).

  Hamish S. Scott;Stylianos E. Antonarakis;Maria D. Lalioti;Colette Rossier

  225
  Citations

• Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

  M. D. Lalioti;M. Mirotsou;C. Buresi;M. C. Peitsch

  199
  Citations

• Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.

  Hamish S. Scott;Maarit Heino;Pärt Peterson;Lauréane Mittaz

  199
  Citations

• Two Isoforms of a Human Intersectin (ITSN) Protein Are Produced by Brain-Specific Alternative Splicing in a Stop Codon

  Michel Guipponi;Hamish S Scott;Haiming Chen;Alexandra Schebesta

  150
  Citations

• Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.

  H. Chen;Colette Rossier;M. D. Lalioti;A. Lynn

  149
  Citations

• Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

  Marguerite Neerman-Arbez;K. M. Johnson;Michael Andréw Morris;J. H. McVey

  144
  Citations

• Mutations in the fibrinogen Aα gene account for the majority of cases of congenital afibrinogenemia

  Marguerite Neerman-Arbez;Philippe de Moerloose;Claire Bridel;Ariane Honsberger

  137
  Citations

• Mutation analyses of North American APS-1 patients.

  M. Heino;Hamish Steele Scott;Q. Chen;P. Peterson

  129
  Citations