Michel Vekemans

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

• Isolation by Size of Epithelial Tumor Cells : A New Method for the Immunomorphological and Molecular Characterization of Circulating Tumor Cells

  Giovanna Vona;Abdelmajid Sabile;Malek Louha;Veronique Sitruk

  1333
  Citations

• Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

  Jeanne Amiel;Béatrice Laudier;Tania Attié-Bitach;Ha Trang

  919
  Citations

• Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3.

  Douglas J. Epstein;Michel Vekemans;Philippe Gros

  813
  Citations

• The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

  Marion Delous;Lekbir Baala;Rémi Salomon;Christine Laclef;Christine Laclef

  564
  Citations

• Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

  Sabina Benko;Judy A. Fantes;Jeanne Amiel;Dirk Jan Kleinjan

  473
  Citations

• Human neural tube defects: Developmental biology, epidemiology, and genetics

  Eric R. Detrait;Timothy M. George;Heather C. Etchevers;John R. Gilbert

  473
  Citations

• SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

  V Belin;V Cusin;G Viot;D Girlich

  467
  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

• Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

  Marc Abitbol;Christian Menini;Anne-Lise Delezoide;Thomas Rhyner

  388
  Citations

• Germline deletion of the miR-17 ∼ 92 cluster causes skeletal and growth defects in humans

  Loïc de Pontual;Loïc de Pontual;Evelyn Yao;Patrick Callier;Laurence Faivre

  365
  Citations

• Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

  Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  334
  Citations

• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  332
  Citations

• PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

  Sylvia Sura Trueba;Joëlle Augé;Géraldine Mattei;Heather Etchevers

  291
  Citations

• The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

  Lekbir Baala;Stéphane Romano;Rana Khaddour;Sophie Saunier

  272
  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

• KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

  Audrey Putoux;Sophie Thomas;Karlien L.M. Coene;Erica E. Davis

  260
  Citations

• Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

  Florence Molinari;Marlène Rio;Virginia Meskenaite;Férechté Encha-Razavi

  256
  Citations

• Down syndrome congenital heart disease: a narrowed region and a candidate gene.

  Gillian M. Barlow;Xiao Ning Chen;Zheng Y. Shi;Gary E. Lyons

  243
  Citations

• A tumor profile in Down syndrome

  Daniel Satgé;Danièle Sommelet;Aimé Geneix;Motoi Nishi

  238
  Citations

• Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

  Hélène De Leersnyder;Marie-Christine de Blois;Bruno Claustrat;Serge Romana

  237
  Citations