Kyle Retterer
Geisinger Medical Center(US)Geisinger Neuroscience Institute(US)Geisinger Health System(US)University of Pennsylvania(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease(2020)1,093 cited
- → Clinical application of whole-exome sequencing across clinical indications(2015)1,051 cited
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders(2018)306 cited
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited