Ben C. J. Hamel

Overview

Best Publications

• Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

  Lisenka E L M Vissers;Conny M A van Ravenswaaij;Ronald Admiraal;Jane A Hurst

  1344
  Citations

• Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

  Yanick J Crow;Yanick J Crow;Bruce E Hayward;Rekha Parmar;Peter Robins

  982
  Citations

• X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

  Frédéric Laumonnier;Frédérique Bonnet-Brilhault;Marie Gomot;Romuald Blanc

  905
  Citations

• Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

  Jacopo Celli;Pascal Duijf;Ben C.J Hamel;Michael Bamshad

  868
  Citations

• Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

  Gillian I Rice;Jacquelyn Bond;Aruna Asipu;Rebecca L Brunette

  818
  Citations

• X-linked mental retardation

  Hans-Hilger Ropers;Ben C. J. Hamel

  709
  Citations

• Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

  P Billuart;T Bienvenu;N Ronce;des Portes

  609
  Citations

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  499
  Citations

• Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

  John A. McGrath;Pascal H.G. Duijf;Volker Doetsch;Alan D. Irvine

  461
  Citations

• p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

  Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  429
  Citations

• Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

  Lars Riff Jensen;Marion Amende;Ulf Gurok;Bettina Moser

  422
  Citations

• Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

  Tjitske Kleefstra;Han G. Brunner;Jeanne Amiel;Astrid R. Oudakker

  421
  Citations

• Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

  M R Nelen;H Kremer;I B Konings;F Schoute

  363
  Citations

• Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

  Elen Griffith;Sarah Walker;Carol-Anne Martin;Paola Vagnarelli

  362
  Citations

• Clinical and molecular studies in a large Dutch family with Noonan syndrome

  I. Van Der Burgt;E. Berends;E. Lommen;S. Van Beersum

  360
  Citations

• The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

  Jan Loeffen;Jan Smeitink;Ralf Triepels;Roel Smeets

  359
  Citations

• Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

  Frederic Laumonnier;Nathalie Ronce;Ben C.J. Hamel;Paul Thomas

  336
  Citations

• Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

  Martin Zenker;Julia Mayerle;Markus M Lerch;Andreas Tagariello

  286
  Citations

• A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

  Y. Muragaki;E.C.M. Mariman;S.E.C. van Beersum;M. Perala

  286
  Citations

• Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

  Cecilie Bredrup;Sophie Saunier;Sophie Saunier;MacHteld M. Oud;Torunn Fiskerstrand;Torunn Fiskerstrand

  265
  Citations