Alain Verloes

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award
• 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Best Publications

• The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

  Crisponi L;Deiana M;Loi A;Chiappe F

  1105
  Citations

• Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

  Jocelyne Magré;Marc Delépine;Eliane Khallouf;Tobias Gedde-Dahl

  829
  Citations

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

  Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  671
  Citations

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

  David Cohen;Nadège Pichard;Sylvie Tordjman;Clarisse Baumann

  513
  Citations

• High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

  Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  466
  Citations

• p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

  Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  429
  Citations

• Updated diagnostic criteria for CHARGE syndrome: a proposal.

  Alain Verloes

  428
  Citations

• Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

  Claire L. Navarro;Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Irène Boccaccio

  424
  Citations

• Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

  I Nishino;A Spinazzola;A Papadimitriou;S Hammans

  397
  Citations

• CHARGE syndrome: an update

  Damien Sanlaville;Alain Verloes

  359
  Citations

• WDR62 is associated with the spindle pole and is mutated in human microcephaly

  Adeline K. Nicholas;Maryam Khurshid;Julie Désir;Ofélia P. Carvalho

  343
  Citations

• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

  Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller

  340
  Citations

• MECP2 is highly mutated in X-linked mental retardation

  P Couvert;T Bienvenu;C Aquaviva;K Poirier

  330
  Citations

• Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

  Elfride De Baere;Michael J. Dixon;Kent W. Small;Ethylin W. Jabs

  326
  Citations

• Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

  L. Van Maldergem;J. Magre;T. E. Khallouf;T. Gedde-Dahl

  306
  Citations

• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

  Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh

  304
  Citations

• Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

  Joseph D. Buxbaum;Guiqing Cai;Pauline Chaste;Gudrun Nygren

  303
  Citations

• Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

  Shih-hsin Kan;Navaratnam Elanko;David Johnson;Laura Cornejo-Roldan

  301
  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

• Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.

  A. Verloes;N. Sakalihasan;L. Koulischer;R. Limet

  293
  Citations