Associate Professor

Medical Genetics

Dr. Klaas J. Wierenga, MD

Doctor Klaas J. Wierenga, MD works in the field of Medical Genetics. Klaas J. Wierenga, MD is also published. He has 25 publications published. The lastest publication: "Is there an energy deficiency in homozygous sickle cell disease?'

Publications

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.
High-throughput screening for human galactokinase inhibitors.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
"Minimal intervention management" for gastroschisis: a preliminary report.
Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.
Delayed adolescent growth in homozygous sickle cell disease.
Innovative therapy for Classic Galactosemia - tale of two HTS.
Identifying homozygous sickle cell disease when neonatal screening is not available: a clinic-based observational study.
Cerebrovascular complications and parvovirus infection in homozygous sickle cell disease.
Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study.
Significance of fever in Jamaican patients with homozygous sickle cell disease.
[Heterozygote detection for hemoglobinopathies: situation in the Netherlands as compared to the British].
Is there an energy deficiency in homozygous sickle cell disease?
[Neonatal screening for sickle-cell disease].
Penicillin-resistant Streptococcus pneumoniae in a Jamaican patient with homozygous sickle-cell disease.
Comment on: Loureiro & Rozenfeld "Epidemiology of sickle cell disease hospital admissions in Brazil".
Glomerulonephritis after human parvovirus infection in homozygous sickle-cell disease.
Galactose toxicity in animals.

Doctors Specialties

Clinical Genetics
Medical Biochemical Genetics
Medical Genetics

Accepted Insurances

Education

Jackson Memorial Hospital - Jackson Health System
University of Groningen Faculty of Medical Science

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