Lance H. Rodan
Boston Children's Hospital(US)Harvard University(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology
Most-Cited Works
- → Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care(2017)1,011 cited
- → Mutations disrupting neuritogenesis genes confer risk for cerebral palsy(2020)172 cited
- → De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias(2018)148 cited
- → Defining the phenotypic spectrum of SLC6A1 mutations(2018)147 cited
- → Recessive mutations in VPS13D cause childhood onset movement disorders(2018)128 cited
- → CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language(2018)118 cited
- → A Citywide Prehospital Protocol Increases Access to Stroke Thrombolysis in Toronto(2009)114 cited
- → De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome(2024)100 cited
- → Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy(2019)98 cited
- → Stroke recurrence in children with congenital heart disease(2012)97 cited