lionel van maldergem

Overview

Best Publications

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

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

  829
  Citations

• Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

  Max A. Tischfield;Hagit N. Baris;Chen Wu;Guenther Rudolph

  769
  Citations

• GJB2 mutations and degree of hearing loss: a multicenter study.

  Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin

  701
  Citations

• Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.

  Anne Philippe;Anne Philippe;Maria Martinez;Michel Guilloud-Bataille;Christopher Gillberg

  694
  Citations

• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

  Sabine Endele;Georg Rosenberger;Kirsten Geider;Bernt Popp

  572
  Citations

• Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

  E. Nelis;C. van Broeckhoven;E.C.M. Mariman;A.A.W.M. Gabreëls-Festen

  515
  Citations

• Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

  P B Munroe;R O Olgunturk;Jean-Pierre Fryns;L Van Maldergem

  514
  Citations

• Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

  Christian Windpassinger;Michaela Auer-Grumbach;Joy Irobi;Heema Patel

  445
  Citations

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

  Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk

  420
  Citations

• Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

  Katja Grohmann;Markus Schuelke;Alexander Diers;Katrin Hoffmann

  395
  Citations

• Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

  Bart Loeys;Lionel Van Maldergem;Geert Mortier;Paul Coucke

  377
  Citations

• Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

  Katrina Tatton-Brown;Sheila Seal;Elise Ruark;Jenny Harmer

  354
  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

• Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up.

  Etienne M. Sokal;Françoise Smets;Annick Bourgois;Lionel Van Maldergem

  320
  Citations

• RAD21 Mutations Cause a Human Cohesinopathy

  Matthew A. Deardorff;Matthew A. Deardorff;Jonathan J. Wilde;Melanie Albrecht;Emma Dickinson

  318
  Citations

• Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)

  Darryl Y. Nishimura;Charles C. Searby;Rivka Carmi;Khalil Elbedour

  304
  Citations

• X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

  H. Hu;S. A. Haas;J. Chelly;J. Chelly;H. Van Esch

  297
  Citations

• Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.

  K. Janssens;R. Gershoni-Baruch;N. Guanabens;N. Migone

  293
  Citations

• GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

  William A. Paznekas;Barbara Karczeski;Sascha Vermeer;R. Brian Lowry

  288
  Citations

• FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

  Elfride De Baere;Diane Beysen;Christine Oley;Birgit Lorenz

  288
  Citations