lionel van maldergem

lionel van maldergem publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where lionel van maldergem sits on this spectrum.

lionel van maldergem D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where lionel van maldergem sits on this spectrum.

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