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Scott Demarest | Researchclopedia

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Scott Demarest

Children's Hospital Colorado ORCID

93

Works

2,252

Citations

26

h-index

45

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Epilepsy research and treatment Genomic variations and chromosomal abnormalities

Affiliations

University of Colorado Hospital2015–2022

Children's National2013–2014

Colorado School of Public Health2019–2019

Outcomes Research Consortium2019–2022

George Washington University2014–2014

Top Works

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Heather E. Olson,Scott Demarest,et al.

2019230 citations

Genomics and Rare Diseases

Autism Spectrum Disorder Research

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Scott Demarest,Heather E. Olson,et al.

2019159 citations

CDKL5 deficiency disorder: clinical features, diagnosis, and management

Helen Leonard,Jenny Downs,et al.

2022139 citations

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

Juliet K. Knowles,Ingo Helbig,et al.

2022134 citations

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian,Shridhar Parthasarathy,et al.

2021116 citations

Treatment of Mitochondrial Disorders

Sreenivas Avula,Sumit Parikh,et al.

2014105 citations

Current knowledge of SLC6A1-related neurodevelopmental disorders

Kimberly Goodspeed,Eduardo Pérez‐Palma,et al.

202097 citations

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Devon L. Johnstone,Hilal H. Al-Shekaili,et al.

201887 citations

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium

Scott Demarest,Renée A. Shellhaas,et al.

201784 citations