Christèle Dubourg

Overview

Best Publications

• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

  Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  557
  Citations

• Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

  Audrey Guilmatre;Christèle Dubourg;Anne-Laure Mosca;Solenn Legallic

  518
  Citations

• Holoprosencephaly. Orphanet J Rare Dis 2:8

  Dubourg C;Bendavid C;Pasquier L;Henry C

  374
  Citations

• A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

  Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  348
  Citations

• MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

  Nathalie Le Meur;Muriel Holder-Espinasse;Sylvie Jaillard;Alice Goldenberg

  289
  Citations

• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  225
  Citations

• Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.

  Yongsu Jeong;Federico Coluccio Leskow;Kenia El-Jaick;Erich Roessler

  217
  Citations

• Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

  Lúcia Y. Brown;Sylvie Odent;Véronique David;Martine Blayau

  212
  Citations

• Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

  Christèle Dubourg;Leïla Lazaro;Laurent Pasquier;Claude Bendavid

  192
  Citations

• De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

  Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  190
  Citations

• Analysis of genotype-phenotype correlations in human holoprosencephaly.

  Benjamin D. Solomon;Sandra Mercier;Jorge I. Vélez;Daniel E. Pineda-Alvarez

  151
  Citations

• Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

  Caroline Schluth-Bolard;Bruno Delobel;Damien Sanlaville;Odile Boute

  132
  Citations

• Delineation of 15q13.3 microdeletions.

  A Masurel-Paulet;J Andrieux;P Callier;JM Cuisset

  129
  Citations

• Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly

  Elisabeth Traiffort;Christèle Dubourg;Hélène Faure;Didier Rognan

  118
  Citations

• New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

  Sandra Mercier;Christèle Dubourg;Nicolas Garcelon;Boris Campillo-Gimenez

  117
  Citations

• Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma.

  Jean-Jacques Patard;Nathalie Rioux-Leclercq;Damien Masson;Damien Masson;Salim Zerrouki

  114
  Citations

• Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

  Chloé Quélin;Claude Bendavid;Christèle Dubourg;Céline de la Rochebrochard

  111
  Citations

• HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

  Carla Marini;Alessandro Porro;Agnès Rastetter;Carine Dalle

  105
  Citations

• Phenotypic and molecular variability of the holoprosencephalic spectrum.

  Leila Lazaro;Christéle Dubourg;Laurent Pasquier;Franck Le Duff

  95
  Citations

• Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  22
  Citations