Julien Thevenon

Overview

Best Publications

• Pericentric heterochromatin reprogramming by new histone variants during mouse spermiogenesis.

  Jérôme Govin;Emmanuelle Escoffier;Emmanuelle Escoffier;Sophie Rousseaux;Sophie Rousseaux;Lauriane Kuhn;Lauriane Kuhn;Lauriane Kuhn

  330
  Citations

• Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

  Claire Redin;Bénédicte Gérard;Julia Lauer;Yvan Herenger

  281
  Citations

• Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

  J. Thevenon;Y. Duffourd;A. Masurel-Paulet;M. Lefebvre

  257
  Citations

• The landscape of epilepsy-related GATOR1 variants

  Sara Baldassari;Fabienne Picard;Nienke E. Verbeek;Marjan van Kempen

  225
  Citations

• Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

  Ashley L. Lennox;Mariah L. Hoye;Ruiji Jiang;Bethany L. Johnson-Kerner

  206
  Citations

• PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

  Christel Thauvin-Robinet;Martine Auclair;Laurence Duplomb;Martine Caron-Debarle

  194
  Citations

• Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

  Holly A.F. Stessman;Marjolein H. Willemsen;Michaela Fenckova;Osnat Penn

  172
  Citations

• Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

  Sophie Nambot;Julien Thevenon;Paul Kuentz;Yannis Duffourd

  168
  Citations

• Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

  Hsiang Chih Lu;Hsiang Chih Lu;Qiumin Tan;Maxime W.C. Rousseaux;Wei Wang

  157
  Citations

• BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

  Cristina Dias;Sara B. Estruch;Sarah A. Graham;Jeremy McRae

  156
  Citations

• Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

  Raphael Carapito;Martina Konantz;Catherine Paillard;Zhichao Miao

  156
  Citations

• The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

  Christel Thauvin-Robinet;Jaclyn S Lee;Estelle Lopez;Vicente Herranz-Pérez

  152
  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

• The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

  Jean-Benoît Courcet;Laurence Faivre;Perrine Malzac;Alice Masurel-Paulet

  137
  Citations

• In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

  Virginie Carmignac;Julien Thevenon;Lesley Adès;Lesley Adès;Bert Callewaert

  127
  Citations

• Epigenetic reprogramming of the male genome during gametogenesis and in the zygote.

  S Rousseaux;N Reynoird;E Escoffier;J Thevenon

  125
  Citations

• Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

  Paul Kuentz;Judith St-Onge;Judith St-Onge;Yannis Duffourd;Jean-Benoît Courcet

  112
  Citations

• WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

  Janson J. White;Juliana F. Mazzeu;Zeynep Coban-Akdemir;Yavuz Bayram

  112
  Citations

• Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

  Ange Line Bruel;Brunella Franco;Yannis Duffourd;Julien Thevenon

  108
  Citations

• Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

  Florian Villegas;Florian Villegas;Daphné Lehalle;Daniela Mayer;Daniela Mayer;Melanie Rittirsch

  107
  Citations