Hamel, Ben C.J.

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 768

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

Zenker, M., Mayerle, J., Lerch, M. M., Tagariello, A., Zerres, K., Durie, P. R., Beier, M., Hülskamp, G., Guzman, C., Rehder, H., et al. (2005) · Nature Genetics

Ubiquitin and proteasome pathwaysGenomics and Rare Diseases

Cited by 266

Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome

Zweers, M. C., Bristow, J., Steijlen, P. M., Dean, W. B., Hamel, B. C., Otero, M., Kucharekova, M., Boezeman, J. B., & Schalkwijk, J. (2003) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 242

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Willemsen, M. H., Vallès, A., Kirkels, L. A. M. H., Mastebroek, M., Olde Loohuis, N., Kos, A., Wissink-Lindhout, W. M., de Brouwer, A. P. M., Nillesen, W. M., Pfundt, R., et al. (2011) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 202

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

P63 gene mutations and human developmental syndromes

Brunner, H. G., Hamel, B. C. J., & Bokhoven, H. V. (2002) · American Journal of Medical Genetics

dental development and anomaliesCongenital limb and hand anomalies

Cited by 127

Auditory and visual cortical activity during selective attention in fragile X syndrome: a cascade of processing deficiencies.

Van der Molen, M. J. W., Van der Molen, M. W., Ridderinkhof, K. R., Hamel, B. C. J., Curfs, L. M. G., & Ramakers, G. J. A. (2012) · Clinical Neurophysiology

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 88

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B. G., Hamel, B., Schalkwijk, J., Loeys, B., et al. (2017) · Clinical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 60

Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous CHST14 mutation

Voermans, N. C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M. C., Bönnemann, C., van Engelen, B. G., & Hamel, B. C. (2012) · American Journal of Medical Genetics Part A

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 36

Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients

Voermans, N. C., Altenburg, T. M., Hamel, B. C., de Haan, A., & van Engelen, B. G. (2007) · Neuromuscular Disorders

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 36