Klaas J. Wierenga

Activating mutations in <i>STIM1</i> and <i>ORAI1</i> cause overlapping syndromes of tubular myopathy and congenital miosis

Vasyl Nesin, Graham B. Wiley, Maria Kousi et al. · Proceedings of the National Academy of Sciences · 2014 · 242 citations · Full text

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 212 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study

Klaas J. Wierenga, Ian Hambleton, Norma Lewis · The Lancet · 2001 · 211 citations

Clinical Epidemiology, Hematology, Homozygous Sickle-cell Disease +5

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

David Dimmock, Q. Zhang, Carlo Dionisi‐Vici et al. · Human Mutation · 2008 · 167 citations · Full text

Deoxyguanosine Kinase, Dna Damage, Genetics +18

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slavé Petrovski, Sébastien Küry, Candace T. Myers et al. · The American Journal of Human Genetics · 2016 · 116 citations · Full text

Mendelian Disorder, Brain Development, Genetic Disorder +7