Damien Sanlaville

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

• 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

• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

  R. G. Walters;S. Jacquemont;A. Valsesia;A. Valsesia;A. Valsesia;A. J. de Smith

  623
  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

• GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

  Gaetan Lesca;Gabrielle Rudolf;Nadine Bruneau;Natalia Lozovaya

  487
  Citations

• Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity

  Cheng Lung Ku;Horst Von Bernuth;Horst Von Bernuth;Capucine Picard;Shen Ying Zhang

  470
  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

• 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

• Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

  Damien Sanlaville;Heather C Etchevers;Marie Gonzales;Jelena Martinovic

  267
  Citations

• Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

  Weining Lu;Weining Lu;Albertien M. Van Eerde;Xueping Fan;Fabiola Quintero-Rivera

  257
  Citations

• Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

  Patrick Edery;Charles Marcaillou;Mourad Sahbatou;Audrey Labalme

  236
  Citations

• GRIN2A-related disorders : genotype and functional consequence predict phenotype

  Vincent Strehlow;Henrike O Heyne;Henrike O Heyne;Henrike O Heyne;Danique R M Vlaskamp;Katie F M Marwick

  233
  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

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

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

  213
  Citations

• Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.

  Gaetan Lesca;Gabrielle Rudolf;Audrey Labalme;Edouard Hirsch

  203
  Citations

• Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

  Sabina Benko;Christopher T Gordon;Delphine Mallet;Rajini Sreenivasan

  202
  Citations

• Guidelines for molecular karyotyping in constitutional genetic diagnosis.

  Joris Robert Vermeesch;Heike Fiegler;Nicole de Leeuw;Karoly Szuhai

  198
  Citations

• Reinforcement of STAT3 activity reprogrammes human embryonic stem cells to naive-like pluripotency.

  Hongwei Chen;Irène Aksoy;Fabrice Gonnot;Pierre Osteil

  174
  Citations

• Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

  Nina Bögershausen;Vincent Gatinois;Vincent Gatinois;Vera Riehmer;Hülya Kayserili

  168
  Citations

• Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation | NOVA. The University of Newcastle's Digital Repository

  Guy Froyen;Mark Corbett;Jamel Chelly;Damien Sanlaville

  0
  Citations