Benoit Arveiler

Benoit Arveiler publication distribution in Molecular Biology in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Molecular Biology in 2026. The highlighted bar marks where Benoit Arveiler sits on this spectrum.

Benoit Arveiler D-index placement in Molecular Biology in 2026

The chart shows the D-index (discipline H-index) distribution of Molecular Biology scientists ranked by Research.com in 2026. The highlighted bar marks where Benoit Arveiler sits on this spectrum.

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