Ashley P.L. Marsh

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 268 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +8

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Changuk Chung, Xiaoxu Yang, Taejeong Bae et al. · Nature Genetics · 2023 · 98 citations · Full text

Developmental Anomaly, Developmental Biology, Somatic Mutations +10

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P.L. Marsh, Delphine Héron, Timothy J. Edwards et al. · Nature Genetics · 2017 · 95 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in <i>MTOR</i>

Richard J. Leventer, Thomas Scerri, Ashley P.L. Marsh et al. · Neurology · 2015 · 77 citations · Full text

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Élodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

Allelic Variant, Translational Biology, Genetic Disorder +10