Delphine Héron

Overview

Best Publications

• Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

  Christelle M Durand;Catalina Betancur;Tobias M Boeckers;Juergen Bockmann

  1937
  Citations

• Characterization of a Germ-Line Deletion, Including the Entire INK4/ARF Locus, in a Melanoma-Neural System Tumor Family: Identification of ANRIL, an Antisense Noncoding RNA Whose Expression Coclusters with ARF

  Eric Pasmant;Ingrid Laurendeau;Delphine Héron;Michel Vidaud

  876
  Citations

• Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

  Claire S. Leblond;Caroline Nava;Anne Polge;Julie Gauthier

  704
  Citations

• Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

  Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  671
  Citations

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

  Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  557
  Citations

• Specific genetic disorders and autism: clinical contribution towards their identification.

  David Cohen;Nadège Pichard;Sylvie Tordjman;Clarisse Baumann

  513
  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

• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

  Tobias B. Haack;Penelope Hogarth;Michael C. Kruer;Allison Gregory

  380
  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

• Key clinical features to identify girls with CDKL5 mutations

  Nadia Bahi-Buisson;Juliette Nectoux;Juliette Nectoux;Haydeé Rosas-Vargas;Haydeé Rosas-Vargas;Mathieu Milh

  346
  Citations

• Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

  Caroline Nava;Nadine Hanna;Caroline Michot;Sabrina Pereira

  295
  Citations

• Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

  Susan J. Hayflick;Michael C. Kruer;Allison Gregory;Tobias B. Haack

  262
  Citations

• Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

  V. Laugel;C. Dalloz;M. Durand;F. Sauvanaud

  245
  Citations

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Vincenzo Salpietro;Vincenzo Salpietro;Vincenzo Salpietro;Christine L Dixon;Hui Guo;Hui Guo;Oscar D Bello

  244
  Citations

• The three stages of epilepsy in patients with CDKL5 mutations.

  Nadia Bahi-Buisson;Nadia Bahi-Buisson;Anna Kaminska;Anna Kaminska;Nathalie Boddaert;Nathalie Boddaert;Marlène Rio

  220
  Citations

• Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

  Cyril Mignot;Celina von Stülpnagel;Caroline Nava;Dorothée Ville

  213
  Citations

• Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

  Johannes R. Lemke;Kirsten Geider;Katherine L. Helbig;Henrike O. Heyne

  204
  Citations

• PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

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

  194
  Citations

• Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

  C Thauvin-Robinet;M Cossée;V Cormier-Daire;L Van Maldergem

  181
  Citations

• Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

  Grégory Raux;Emilie Bumsel;Bernadette Hecketsweiler;Therese van Amelsvoort

  180
  Citations