Ben C.J. Hamel

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

73h-index20.4kcitations277works0.02yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(86), Connective tissue disorders research(45), Genomic variations and chromosomal abnormalities(34), RNA modifications and cancer(27), Congenital heart defects research(24)

Publications276 total

Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania
European Journal of Medical Genetics·2024Open Access
Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father
Endocrinology Diabetes and Metabolism Case Reports·2023· 1 citedOpen Access
Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1
European Journal of Medical Genetics·2022· 3 cited
Holt-Oram Syndrome; A Case report
Tanzania journal of health research/Tanzania Journal of Health Research·2022Open Access
Carpenter syndrome in a patient from Tanzania
American Journal of Medical Genetics Part A·2020· 9 citedOpen Access
Inauguration of the Tanzania Society of Human Genetics: Biomedical Research in Tanzania with Emphasis on Human Genetics and Genomics
American Journal of Tropical Medicine and Hygiene·2020· 6 citedOpen Access
Two cases of Prune Belly Syndrome from Kagera Region Tanzania
East African Health Research Journal·2020Open Access
PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa
Parkinsonism & Related Disorders·2020· 7 cited
Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa
Tremor and Other Hyperkinetic Movements·2020· 1 citedOpen Access
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
The Journal of Experimental Medicine·2020· 61 citedOpen Access
Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa
PubMed·2019· 1 citedOpen Access
Classification, nosology and diagnostics of Ehlers-Danlos syndrome
Journal of Biomedicine and Translational Research·2019· 2 citedOpen Access
Ellis‐van Creveld syndrome in a patient from Tanzania
American Journal of Medical Genetics Part A·2019· 4 cited
First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features,
Neuromuscular Disorders·2019· 9 cited
A Tanzanian Boy with Molecularly Confirmed X‐Linked Adrenoleukodystrophy
Case Reports in Genetics·2019· 7 citedOpen Access
Camurati–Engelmann disease: a case report from sub-Saharan Africa
Oxford Medical Case Reports·2018· 4 citedOpen Access
Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
Case Reports in Genetics·2017· 4 citedOpen Access
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania
Case Reports in Genetics·2017· 1 citedOpen Access
Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients
Clinical Genetics·2016· 58 citedOpen Access
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation
Pan African Medical Journal·2015· 2 citedOpen Access
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Frequent Co-authors

Hans van Bokhoven(18), Hans‐Hilger Ropers(9), Claude Moraine(9), Han G. Brunner(8), Jamel Chelly(7), Jean‐Pierre Fryns(7), Helger G. Yntema(7), Suzanna G.M. Frints(5), Tjitske Kleefstra(5), Sylvia E. C. van Beersum(5), Edwin C.M. Mariman(5), Martine Raynaud(4), Nathalie Ronce(4), Raoul C. M. Hennekam(4), Hilde Van Esch(4), Vera M. Kalscheuer(4), Jozef Gécz(4), Bert B.A. de Vries(3), Han G. Brunner(3), Joris A. Veltman(3)