Britt I. Drögemöller
CancerCare Manitoba(CA)Children's Hospital Research Institute of Manitoba(CA)Children's Hospital of Winnipeg(CA)University of Manitoba(CA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Pharmacogenetics and Drug Metabolism, Genetic Associations and Epidemiology, Hearing, Cochlea, Tinnitus, Genetics, Metabolism and Genetic Disorders
Most-Cited Works
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease(2019)204 cited
- → Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS(2019)105 cited
- → Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability(2018)92 cited
- → PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights(2018)87 cited
- → Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy(2019)82 cited