Thatjana Gardeitchik
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Connective tissue disorders research, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders
Most-Cited Works
- → Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness(2012)206 cited
- → International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up(2019)143 cited
- → Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa(2017)113 cited
- → Germline AGO2 mutations impair RNA interference and human neurological development(2020)98 cited
- → HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients(2017)98 cited
- → Further characterization of ATP6V0A2-related autosomal recessive cutis laxa(2012)93 cited
- → Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging(2020)86 cited
- → Metabolic cutis laxa syndromes(2011)83 cited
- → Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior(2021)83 cited
- → Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies(2018)83 cited