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 and Molecular Biology D-index 61 Citations 12,804 167 World Ranking 2276 National Ranking 92

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Michel Vekemans focuses on Genetics, Internal medicine, Endocrinology, Ciliopathies and Mutation. Microcephaly, Joubert syndrome, Mutant, Gene and Neural crest are the subjects of his Genetics studies. Michel Vekemans works mostly in the field of Internal medicine, limiting it down to topics relating to Proband and, in certain cases, Subtelomere, Gene rearrangement, Genotyping, Cytogenetics and Tetralogy of Fallot.

His Circadian rhythm and Melatonin study, which is part of a larger body of work in Endocrinology, is frequently linked to Sleep onset and Sleep disorder, bridging the gap between disciplines. His Ciliopathies research is multidisciplinary, incorporating perspectives in Cilium and Ciliopathy. His biological study spans a wide range of topics, including Transport protein, Neural tube and Protein subcellular localization prediction.

His most cited work include:

  • Isolation by Size of Epithelial Tumor Cells : A New Method for the Immunomorphological and Molecular Characterization of Circulating Tumor Cells (864 citations)
  • Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (649 citations)
  • Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. (575 citations)

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

His primary areas of investigation include Genetics, Pathology, Fetus, Karyotype and Prenatal diagnosis. His study in Gene, Locus, Chromosome, Gene duplication and Phenotype falls under the purview of Genetics. His Locus study which covers Molecular biology that intersects with Fluorescence in situ hybridization.

His studies deal with areas such as Trisomy and Internal medicine as well as Pathology. His studies in Fetus integrate themes in fields like Gestation and Anatomy. The concepts of his Karyotype study are interwoven with issues in Aneuploidy, Chromosomal translocation, Endocrinology and Cytogenetics.

He most often published in these fields:

  • Genetics (57.88%)
  • Pathology (18.65%)
  • Fetus (19.29%)

What were the highlights of his more recent work (between 2012-2019)?

  • Genetics (57.88%)
  • Fetus (19.29%)
  • Pregnancy (14.79%)

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

His main research concerns Genetics, Fetus, Pregnancy, Prenatal diagnosis and Phenotype. His work is connected to Ciliopathies, Gene, Exome sequencing, Intellectual disability and Comparative genomic hybridization, as a part of Genetics. His Ciliopathies research is multidisciplinary, incorporating perspectives in Polydactyly, Cilium, Joubert syndrome and Short rib – polydactyly syndrome.

His Fetus research incorporates elements of Overgrowth syndrome and Corpus callosum, Anatomy. The various areas that Michel Vekemans examines in his Pregnancy study include Agenesis of the corpus callosum, Autopsy, Pathology, Ciliopathy and Obstetrics. His work in Phenotype addresses issues such as Bioinformatics, which are connected to fields such as Genetic counseling, Pontocerebellar hypoplasia, Arthrogryposis, Mutation and Failure to thrive.

Between 2012 and 2019, his most popular works were:

  • A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium (82 citations)
  • A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium (82 citations)
  • The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation (78 citations)

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

  • Gene
  • Mutation
  • Genetics

The scientist’s investigation covers issues in Genetics, Cilium, Ciliopathies, Microcephaly and GLI3. In his papers, Michel Vekemans integrates diverse fields, such as Genetics, Acrocephalosyndactylia and Greig cephalopolysyndactyly syndrome. His Cilium study combines topics from a wide range of disciplines, such as Internal medicine, Retina and Genotype.

His Ciliopathies study combines topics in areas such as Polydactyly and Joubert syndrome. His Joubert syndrome study integrates concerns from other disciplines, such as Exome sequencing, Mutant and INPP5E. His Microcephaly research incorporates themes from Procentriole, Atresia and Centriole elongation.

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

Isolation by Size of Epithelial Tumor Cells : A New Method for the Immunomorphological and Molecular Characterization of Circulating Tumor Cells

Giovanna Vona;Abdelmajid Sabile;Malek Louha;Veronique Sitruk.
American Journal of Pathology (2000)

1185 Citations

Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3.

Douglas J. Epstein;Michel Vekemans;Philippe Gros.
Cell (1991)

801 Citations

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Jeanne Amiel;Béatrice Laudier;Tania Attié-Bitach;Ha Trang.
Nature Genetics (2003)

742 Citations

Array‐based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

M-L Jacquemont;D Sanlaville;R Redon;O Raoul.
Journal of Medical Genetics (2006)

380 Citations

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.

Marc Abitbol;Christian Menini;Anne-Lise Delezoide;Thomas Rhyner.
Nature Genetics (1993)

369 Citations

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Sabina Benko;Judy A. Fantes;Jeanne Amiel;Dirk Jan Kleinjan.
Nature Genetics (2009)

351 Citations

Germline deletion of the miR-17 ∼ 92 cluster causes skeletal and growth defects in humans

Loïc de Pontual;Loïc de Pontual;Evelyn Yao;Patrick Callier;Laurence Faivre.
Nature Genetics (2011)

272 Citations

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

Florence Molinari;Marlène Rio;Virginia Meskenaite;Férechté Encha-Razavi.
Science (2002)

259 Citations

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala;Stéphane Romano;Rana Khaddour;Sophie Saunier.
American Journal of Human Genetics (2007)

251 Citations

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Damien Sanlaville;Heather C Etchevers;Marie Gonzales;Jelena Martinovic.
Journal of Medical Genetics (2005)

236 Citations

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