Michel Goossens

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

• SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

  Véronique Pingault;Nadège Bondurand;Kirsten Kuhlbrodt;Derk E. Goerich

  947
  Citations

• Review and update of mutations causing Waardenburg syndrome.

  Véronique Pingault;Dorothée Ente;Florence Dastot-Le Moal;Michel Goossens

  719
  Citations

• Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

  Nadege Bondurand;Veronique Pingault;Derk E. Goerich;Nicole Lemort

  573
  Citations

• Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

  Harry Cuppens;Wei Lin;Martine Jaspers;B Costes

  555
  Citations

• Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

  Gaëlle Pennarun;Estelle Escudier;Catherine Chapelin;Anne-Marie Bridoux

  510
  Citations

• Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

  S. E. Antonarakis;J. P. Rossiter;M. Young;J. Horst

  455
  Citations

• Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

  Beate Herbarth;Veronique Pingault;Nadege Bondurand;Kirsten Kuhlbrodt

  453
  Citations

• Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

  Irène Netchine;Marie Laure Sobrier;Heiko Krude;Dirk Schnabel

  433
  Citations

• Hepatosplenic T-cell lymphoma: sinusal/sinusoidal localization of malignant cells expressing the T-cell receptor gamma delta

  JP Farcet;P Gaulard;JP Marolleau;JP Le Couedic

  408
  Citations

• Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene

  Serge Amselem;Philippe Duquesnoy;Olivier Attree;Giuseppe Novelli

  403
  Citations

• Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression

  Stany Chretien;Anne Dubart;Denise Beaupain;Natacha Raich

  388
  Citations

• Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

  Pascale Fanen;Nada Ghanem;Michel Vidaud;Claude Besmond

  382
  Citations

• MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications

  Cécile Cazeneuve;Tamara Sarkisian;Christophe Pêcheux;Michel Dervichian

  348
  Citations

• Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

  Nadege Bondurand;Nadege Bondurand;Florence Dastot-Le Moal;Laure Stanchina;Laure Stanchina;Nathalie Collot

  320
  Citations

• Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.

  Jacques Pantel;Kalotina Machinis;Marie-Laure Sobrier;Philippe Duquesnoy

  315
  Citations

• Triplicated alpha-globin loci in humans.

  Michel Goossens;Andree M. Dozy;Stephen H. Embury;Zach Zachariades

  298
  Citations

• Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot–Marie–Tooth disease, is directly regulated by the transcription factor SOX10

  Nadége Bondurand;Mathilde Girard;Véronique Pingault;Nicole Lemort

  277
  Citations

• Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

  Valère Cacheux;Florence Dastot-Le Moal;Helena Kääriäinen;Nadège Bondurand

  266
  Citations

• Mowat-Wilson syndrome

  D R Mowat;M J Wilson;M Goossens

  259
  Citations

• Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin.

  Stephen A. Liebhaber;Michel Goossens;Yuet Wai Kan

  232
  Citations