Ashley P.L. Marsh
Publications by Year
Research Areas
Fetal and Pediatric Neurological Disorders, Genetic factors in colorectal cancer, Genomics and Rare Diseases, Neonatal and fetal brain pathology, RNA modifications and cancer
Most-Cited Works
- → Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology(2014)270 cited
- → The energetic brain – A review from students to students(2019)196 cited
- → Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development(2023)103 cited
- → Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance(2017)96 cited
- → Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR(2015)77 cited
- → DCCmutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome(2017)58 cited
- → Successful treatment of pill-swallowing difficulties with head posture practice(2010)41 cited
- → Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss(2021)40 cited
- → Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss(2015)37 cited
- → DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans(2018)23 cited