Saadet Mercimek‐Mahmutoglu
University of Toronto(CA)Hospital for Sick Children(CA)SickKids Foundation(CA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Muscle metabolism and nutrition, Amino Acid Enzymes and Metabolism, Diet and metabolism studies, Genomics and Rare Diseases
Most-Cited Works
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → Pyridoxine dependent epilepsy and antiquitin deficiency(2011)300 cited
- → Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force(2016)280 cited
- → Diagnostic yield of genetic testing in epileptic encephalopathy in childhood(2015)247 cited
- → Phenotype and genotype in 101 males with X-linked creatine transporter deficiency(2013)162 cited
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