Ben C. J. Hamel

Ben C. J. Hamel 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 Ben C. J. Hamel sits on this spectrum.

Ben C. J. Hamel 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 Ben C. J. Hamel sits on this spectrum.

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