Scott Demarest
Children's Hospital Colorado(US)University of Colorado Denver(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Autism Spectrum Disorder Research
Most-Cited Works
- → Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review(2019)230 cited
- → CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development(2019)159 cited
- → CDKL5 deficiency disorder: clinical features, diagnosis, and management(2022)138 cited
- → Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress(2022)132 cited
- → Assessing the landscape of STXBP1-related disorders in 534 individuals(2021)116 cited
- → Treatment of Mitochondrial Disorders(2014)105 cited
- → Current knowledge of SLC6A1-related neurodevelopmental disorders(2020)97 cited
- → PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights(2018)87 cited
- → The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium(2017)84 cited
- → Severity Assessment in CDKL5 Deficiency Disorder(2019)78 cited