Ben C.J. Hamel - Concepedia

Author

Ben C.J. Hamel

Also Known As

Annemarie Ferwerda, B C Hamel, B C J HAMEL, B C J Hamel, B Hamel, B. C. Hamel, B. C. J. Hamel, B. Hamel, B.C. Hamel, B.C.J. Hamel

277

Publications

20.4K

Citations

H-Index

163

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center Max Planck Institute for Molecular Genetics Inserm Centre Hospitalier Universitaire de Tours

About

Ben C.J. Hamel is an author at Radboud University Nijmegen specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	58	97	14.6K
2	Public Health	11	11	1.1K
3	Health Sciences	5	5	287
4	Natural Sciences	4	4	633
5	Education	1	1	30

Ben C.J. Hamel

151

Publications

18.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal, Nature Genetics ChromatinGenetic DisorderGeneticsCharge SyndromeMolecular Biology	2004	1.3K
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus Yanick J. Crow, Bruce E. Hayward, Rekha Parmar, Nature Genetics Ags1 LocusMendelian DisorderGenetic DisorderMedicineGenetics	2006	876
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, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyMendelian DisorderSyndromic AutismGenetic Disorder	2004	756
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel, Cell Eec SyndromeMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	1999	709
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response Gillian Rice, Jacquelyn Bond, Aruna Asipu, Nature Genetics AllergyAutoimmune DiseasePathogenesisImmunologyInnate Immune Response	2009	680
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation Pierre Billuart, T Bienvenu, Nathalie Ronce, Nature Developmental BiologyMolecular NeuroscienceSignal TransductionPsychiatryGenetics	1998	551
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, The American Journal of Human Genetics Histone ModificationsChromatinGene Deletion DataChromatin StructureSubtelomeric Deletion Syndrome	2006	395
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, The American Journal of Human Genetics Eec SyndromeDevelopmental BiologyGenetic DisorderGeneticsPathology	2001	376
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation Kerstin Kutsche, Helger G. Yntema, Alexander Brandt, Nature Genetics Exchange FactorMendelian DisorderRho GtpasesGenetic DisorderGenetics	2000	370

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