Klaas J. Wierenga
University of Florida(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology
Most-Cited Works
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis(2014)243 cited
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study(2001)212 cited
- → Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase(2008)167 cited
- → Galactose toxicity in animals(2009)127 cited
- → Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures(2016)116 cited
- → Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome(2014)106 cited
- → POGZ truncating alleles cause syndromic intellectual disability(2016)106 cited
- → Cerebrovascular complications and parvovirus infection in homozygous sickle cell disease(2001)99 cited