Benoit Arveiler

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

• 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

• 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

• Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

  B. Kerr;M. A. Delrue;S. Sigaudy;R. Perveen

  250
  Citations

• Increasing the complexity: new genes and new types of albinism

  Lluís Montoliu;Karen Grønskov;Karen Grønskov;Ai-Hua Wei;Mónica Martínez-García

  242
  Citations

• Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia.

  J K Millar;S Christie;S Anderson;D Lawson

  230
  Citations

• Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

  Eric Bieth;Sanaa Eddiry;Véronique Gaston;Françoise Lorenzini

  204
  Citations

• Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

  Paquita Nurden;Najet Debili;Isabelle Coupry;Marijke Bryckaert

  199
  Citations

• COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

  Igor Sibon;Isabelle Coupry;Patrice Menegon;Jean-Pierre Bouchet

  167
  Citations

• Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

  Coupry I;Roudaut C;Stef M;Delrue Ma

  158
  Citations

• Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

  Claudia Braida;Rhoda K.A. Stefanatos;Berit Adam;Navdeep Mahajan

  137
  Citations

• Molecular characterization of a series of 990 index patients with albinism.

  Eulalie Lasseaux;Claudio Plaisant;Vincent Michaud;Perrine Pennamen

  135
  Citations

• Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations

  Patricia Fergelot;Martine Van Belzen;Julien Van Gils;Alexandra Afenjar

  123
  Citations

• A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

  Delphine Simon;Benoit Laloo;Malika Barillot;Thomas Barnetche

  123
  Citations

• STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

  Cyril Mignot;Marie-Laure Moutard;Oriane Trouillard;Isabelle Gourfinkel-An

  123
  Citations

• Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects

  Caroline Rooryck;Fanny Morice-Picard;Nursel H. Elçioglu;Didier Lacombe

  118
  Citations

• Profiling candidate genes involved in wax biosynthesis in Arabidopsis thaliana by microarray analysis

  Patricia Costaglioli;Jérôme Joubès;Christel Garcia;Marianne Stef

  113
  Citations

• Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

  Cyril Goizet;Elsa Excoffier;Laurence Taine;Emmanuelle Taupiac

  95
  Citations

• Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

  Caroline Rooryck;Christel Roudaut;Eulalie Robine;Jörg Müsebeck

  94
  Citations

• Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

  Caroline Rooryck;Noui Souakri;Dorothée Cailley;Julie Bouron

  86
  Citations