Laurence Colleaux

Laurence Colleaux 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 Laurence Colleaux sits on this spectrum.

Laurence Colleaux 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 Laurence Colleaux sits on this spectrum.

Overview

Best Publications

• Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

  C Shaw-Smith;R Redon;L Rickman;M Rio

  733
  Citations

• De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

  Giulia Barcia;Matthew R Fleming;Aline Deligniere;Valeswara-Rao Gazula

  547
  Citations

• Complete Dna-Sequence Of Yeast Chromosome-Xi

  B. Dujon;D. Alexandraki;B. André;W. Ansorge

  449
  Citations

• Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

  Sarah Boissel;Orit Reish;Karine Proulx;Hiroko Kawagoe-Takaki

  438
  Citations

• Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

  Jeanne Amiel;Marlène Rio;Loïc de Pontual;Richard Redon

  397
  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

  394
  Citations

• An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript.

  Claire Rougeulle;Carlos Cardoso;Michel Fontés;Laurence Colleaux

  372
  Citations

• Recognition and cleavage site of the intron-encoded omega transposase.

  L Colleaux;L D'Auriol;F Galibert;B Dujon

  359
  Citations

• Universal code equivalent of a yeast mitochondrial intron reading frame is expressed into E. coli as a specific double strand endonuclease

  L. Colleaux;L. d'Auriol;M. Betermier;G. Cottarel

  344
  Citations

• Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

  Robert Lyle;Robert Lyle;Frédérique Béna;Frédérique Béna;Sarantis Gagos;Sarantis Gagos;Corinne Gehrig;Corinne Gehrig

  344
  Citations

• Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

  Rami Abou Jamra;Orianne Philippe;Annick Raas-Rothschild;Sebastian H. Eck

  256
  Citations

• Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

  Florence Molinari;Marlène Rio;Virginia Meskenaite;Férechté Encha-Razavi

  256
  Citations

• Purification and characterization of the in vitro activity of I-Sce I, a novel and highly specific endonuclease encoded by a group I intron

  Claude Monteilhet;Arnaud Perrin;Agnès Thierry;Laurence Colleaux

  246
  Citations

• NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

  Xavier Lahaye;Matteo Gentili;Aymeric Silvin;Cécile Conrad

  220
  Citations

• Developmental Changes of the 26 S Proteasome in Abdominal Intersegmental Muscles of Manduca sexta during Programmed Cell Death

  S P Dawson;J E Arnold;N J Mayer;S E Reynolds

  213
  Citations

• Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.

  Frédéric Laumonnier;Sébastien Roger;Pascaline Guérin;Florence Molinari

  204
  Citations

• Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

  Elizabeth K. Ruzzo;José-Mario Capo-Chichi;Bruria Ben-Zeev;Bruria Ben-Zeev;David Chitayat

  195
  Citations

• Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

  Valérie Malan;Diana Rajan;Sophie Thomas;Adam C. Shaw

  193
  Citations

• Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

  Florence Molinari;François Foulquier;François Foulquier;Patrick S. Tarpey;Willy Morelle

  179
  Citations

• Spectrum of NSD1 mutations in Sotos and Weaver syndromes

  M Rio;L Clech;J Amiel;L Faivre

  178
  Citations