Alistair T. Pagnamenta

机构：Centre for Human Genetics, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, University of Oxford, NIHR Oxford Biomedical Research Centre, Royal Devon University Healthcare NHS Foundation Trust · ORCID：0000-0001-7334-0602

发表论文 179 篇 · 总被引 11558 次 · h-index 52

代表论文

• Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases (2023 · Genome Medicine · 被引 80)
• Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications (2024 · Nature Communications · 被引 44)
• The impact of inversions across 33,924 families with rare disease from a national genome sequencing project (2024 · The American Journal of Human Genetics · 被引 32)
• Rare disease gene association discovery in the 100,000 Genomes Project (2025 · Nature · 被引 24)
• AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model (2023 · Acta Neuropathologica · 被引 23)
• CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology (2023 · European Journal of Human Genetics · 被引 20)