Martine Le Merrer

Overview

Best Publications

• Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

  Christine Gicquel;Sylvie Rossignol;Sylvie Cabrol;Muriel Houang

  586
  Citations

• Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

  Ludovic de Beaucoudrey;Ludovic de Beaucoudrey;Anne Puel;Anne Puel;Orchidée Filipe-Santos;Orchidée Filipe-Santos;Aurélie Cobat;Aurélie Cobat

  496
  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

• Fibrodysplasia ossificans progressiva

  Frederick S. Kaplan;Martine Le Merrer;David L. Glaser;Robert J. Pignolo

  386
  Citations

• Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

  Céline Cluzeau;Smail Hadj-Rabia;Marguerite Jambou;Sourour Mansour

  339
  Citations

• Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

  Yvonne Nitschke;Geneviève Baujat;Ulrike Botschen;Tanja Wittkampf

  335
  Citations

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

  Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  334
  Citations

• Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

  J R Hurvitz;W M Suwairi;W Van Hul;H El-Shanti

  333
  Citations

• Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

  David Attias;Chantal Stheneur;Carine Roy;Gwenaëlle Collod-Béroud

  297
  Citations

• Genetic study of scaphocephaly

  Elizabeth Lajeunie;Martine Le Merrer;Catherine Bonaïti-Pellie;Daniel Marchac

  293
  Citations

• Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

  Sonia Abdelhak;Vasiliki Kalatzis;Roland Heilig;Sylvie Compain

  281
  Citations

• Ellis-van Creveld syndrome.

  Geneviève Baujat;Martine Le Merrer

  266
  Citations

• DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

  Nathalie Dagoneau;Marie Goulet;David Geneviève;Yves Sznajer

  262
  Citations

• ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

  Carine Le Goff;Fanny Morice-Picard;Nathalie Dagoneau;Lauren W Wang

  241
  Citations

• Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

  Carine Le Goff;Clémentine Mahaut;Lauren W Wang;Slimane Allali

  229
  Citations

• Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

  Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  217
  Citations

• Identification of mutations in CUL7 in 3-M syndrome

  Céline Huber;Dora Dias-Santagata;Anna Glaser;James O'Sullivan

  206
  Citations

• Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

  Bertrand Isidor;Pierre Lindenbaum;Pierre Lindenbaum;Olivier Pichon;Stéphane Bézieau

  202
  Citations

• Cantú Syndrome Is Caused by Mutations in ABCC9

  Bregje W.M. van Bon;Christian Gilissen;Dorothy K. Grange;Raoul C.M. Hennekam

  196
  Citations

• PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

  Christel Thauvin-Robinet;Martine Auclair;Laurence Duplomb;Martine Caron-Debarle

  194
  Citations