Laurence Colleaux

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