Colette Rossier

Colette Rossier publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Colette Rossier sits on this spectrum.

Colette Rossier D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Colette Rossier sits on this spectrum.

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