D-Index & Metrics Best Publications

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 D-index 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. Citations Publications World Ranking National Ranking
Genetics D-index 41 Citations 8,463 66 World Ranking 3666 National Ranking 58

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • DNA

The scientist’s investigation covers issues in Genetics, Gene, Frameshift mutation, Allele and Kartagener Syndrome. She integrates Genetics and STK11 in her studies. Her Frameshift mutation study incorporates themes from Positional cloning, Autosomal dominant trait, Locus heterogeneity, Kinase activity and Loss of heterozygosity.

The study incorporates disciplines such as Autoimmune regulator, Immunology, PHD finger, Zinc finger and Autoimmune polyendocrinopathy in addition to Allele. Her Nonsense mutation study combines topics in areas such as Genetic heterogeneity, Video microscopy and Exon. Her Human genome research includes elements of Chromosome 21, Non-coding RNA and Pseudogene.

Her most cited work include:

  • Uncoupling protein‐3: a new member of the mitochondrial carrier family with tissue‐specific expression (977 citations)
  • GENCODE: producing a reference annotation for ENCODE (493 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 (311 citations)

What are the main themes of her work throughout her whole career to date?

Colette Rossier mainly investigates Genetics, Gene, Exon, Molecular biology and Chromosome 21. Her work on Genetics deals in particular with Complementary DNA, Gene mapping, Exon trapping, Mutation and Allele. Her Exon research is multidisciplinary, relying on both Chromosomal region, Cosmid and Candidate gene.

The Molecular biology study combines topics in areas such as RNA, Cilium, Endoplasmic reticulum and Transcription. Her Chromosome 21 research includes themes of Chromosome 22, Genome and Sequence analysis. Colette Rossier interconnects ENCODE and Pseudogene in the investigation of issues within Human genome.

She most often published in these fields:

  • Genetics (82.09%)
  • Gene (49.25%)
  • Exon (35.82%)

What were the highlights of her more recent work (between 2001-2015)?

  • Genetics (82.09%)
  • Gene (49.25%)
  • Mutation (13.43%)

In recent papers she was focusing on the following fields of study:

Her main research concerns Genetics, Gene, Mutation, Allele and Missense mutation. Her Genetics study frequently involves adjacent topics like Molecular biology. Her study in the fields of Chromosome 21 and Molecular analysis under the domain of Gene overlaps with other disciplines such as Hemostasis, Factor V and Vascular biology.

Within one scientific family, Colette Rossier focuses on topics pertaining to Genome under Chromosome 21, and may sometimes address concerns connected to Gene mapping. Her Allele study combines topics from a wide range of disciplines, such as Genetic counseling, Tumor suppressor gene, Peutz–Jeghers syndrome and Genotype. Her studies in Missense mutation integrate themes in fields like Cancer research, Non syndromic, Mutation and RUNX1.

Between 2001 and 2015, her most popular works were:

  • GENCODE: producing a reference annotation for ENCODE (493 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 (311 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 (276 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • DNA

Colette Rossier mainly focuses on Genetics, Human genome, Gene, Genome and Chromosome 21. Chromosome 7, RUNX1 and RefSeq are among the areas of Genetics where she concentrates her study. Her Chromosome 7 study incorporates themes from Nonsense mutation, Genetic heterogeneity, Allele and Exon.

She has included themes like Carcinogenesis, Mutation, Point mutation, Frameshift mutation and Haploinsufficiency in her RUNX1 study. Her RefSeq study combines topics in areas such as GENCODE, Computational biology, Pseudogene and Coding region. Her Gene research focuses on Non-coding RNA in particular.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
FEBS Letters (1997)

1322 Citations

GENCODE: producing a reference annotation for ENCODE

Jennifer Harrow;Adam Frankish;Alexandre Reymond;Alexandre Reymond.
Genome Biology (2006)

689 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.
Blood (2002)

488 Citations

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Maria D. Lalioti;Hamish S. Scott;Catherine Buresi;Colette Rossier.
Nature (1997)

395 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.
Proceedings of the National Academy of Sciences of the United States of America (2002)

377 Citations

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

Emmanouil T. Dermitzakis;Alexandre Reymond;Nathalie Scamuffa;Catherine Ucla.
Science (2003)

288 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.
Genomics (1997)

262 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.
Nature Genetics (2001)

259 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.
American Journal of Human Genetics (1998)

246 Citations

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

Georg C. Schwabe;Katrin Hoffmann;Niki Tomas Loges;Daniel Birker.
Human Mutation (2008)

244 Citations

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