Nathan P. Achilly

机构：Baylor College of Medicine, Neurological Research Institute, Texas Children's Hospital · ORCID：0000-0002-0307-2662

发表论文 12 篇 · 总被引 615 次 · h-index 7

代表论文

• Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases (2012 · PLoS ONE · 被引 310)
• An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 (2013 · The American Journal of Human Genetics · 被引 134)
• Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome (2021 · Nature · 被引 67)
• Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice (2021 · eLife · 被引 34)
• The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology (2020 · Human Molecular Genetics · 被引 31)
• A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans (2013 · The Laryngoscope · 被引 19)