Laurent Villard

Laurent Villard 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 Laurent Villard sits on this spectrum.

Laurent Villard 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 Laurent Villard sits on this spectrum.

Overview

Best Publications

• Mutations in a Putative Global Transcriptional Regulator Cause X-linked Mental Retardation With Alpha-Thalassemia (ATR-X Syndrome)

  Richard J Gibbons;David J Picketts;Laurent Villard;Douglas R Higgs

  685
  Citations

• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

  Sabine Endele;Georg Rosenberger;Kirsten Geider;Bernt Popp

  572
  Citations

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

  Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  570
  Citations

• MECP2 mutations account for most cases of typical forms of Rett syndrome

  Thierry Bienvenu;Alain Carrié;Nicolas de Roux;Marie-Claude Vinet

  359
  Citations

• Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.

  Jean-Charles Viemari;Jean-Christophe Roux;Andrew K Tryba;Véronique Saywell

  336
  Citations

• Two affected boys in a Rett syndrome family: Clinical and molecular findings

  L. Villard;A. Kpebe;C. Cardoso;J. Chelly

  253
  Citations

• MECP2 mutations in males

  Laurent Villard

  213
  Citations

• Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome

  Jean-Christophe Roux;Emmanuelle Dura;Emmanuelle Dura;Anne Moncla;Anne Moncla;Josette Mancini

  196
  Citations

• Specific Interaction between the XNP ATR-X Gene Product and the SET Domain of the Human EZH2 Protein

  Carlos Cardoso;Serge Timsit;Laurent Villard;Michel Khrestchatisky

  177
  Citations

• Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

  Mathieu Milh;Nathalie Villeneuve;Mondher Chouchane;Anna Kaminska

  165
  Citations

• Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

  Julien Thevenon;Mathieu Milh;François Feillet;Judith St-Onge

  145
  Citations

• Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

  Carlos Cardoso;Amber Boys;Ellena Parrini;Cecile Mignon-Ravix

  143
  Citations

• GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

  Nadia Bahi-Buisson;Karine Poirier;Nathalie Boddaert;Catherine Fallet-Bianco

  140
  Citations

• Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

  N Bahi-Buisson;K Poirier;N Boddaert;Y Saillour

  136
  Citations

• Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

  N. Philip;B. Chabrol;A. M. Lossi;C. Cardoso

  134
  Citations

• Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

  M A Mencarelli;A Spanhol-Rosseto;R Artuso;D Rondinella

  131
  Citations

• XNP mutation in a large family with Juberg-Marsidi syndrome.

  Laurent Villard;Josef Gecz;Jean François Mattéi;Michel Fontés

  131
  Citations

• A locus for bilateral perisylvian polymicrogyria maps to Xq28.

  Laurent Villard;Karine Nguyen;Carlos Cardoso;Carlos Cardoso;Christa Lese Martin

  129
  Citations

• Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

  Claire Braybrook;Steven Lisgo;Kit Doudney;Deborah Henderson

  126
  Citations

• Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy

  Mathieu Milh;Antonio Falace;Nathalie Villeneuve;Nicola Vanni

  119
  Citations