Maja Tarailo‐Graovac
University of Calgary(CA)Alberta Children's Hospital(CA)BC Children's Hospital(CA)Hotchkiss Brain Institute(CA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, Genetics, Aging, and Longevity in Model Organisms, CRISPR and Genetic Engineering
Most-Cited Works
- → Using RepeatMasker to Identify Repetitive Elements in Genomic Sequences(2009)3,543 cited
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → FLAGS, frequently mutated genes in public exomes(2014)171 cited
- → Genetic Modifiers and Rare Mendelian Disease(2020)171 cited
- → NANS-mediated synthesis of sialic acid is required for brain and skeletal development(2016)164 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