Andrew Mumford

机构：North Bristol NHS Trust, University of Bristol

发表论文 295 篇 · 总被引 17663 次 · h-index 61

代表论文

• Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy (2025 · Nature Genetics · 被引 47)
• Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder (2025 · medRxiv · 被引 10)
• Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism (2025 · Brain · 被引 7)
• Genome-wide association analysis of neutrophil granularity identifies CDK6 as a regulator of primary granules (2025 · iScience · 被引 2)
• Author response: Purified zymogens reveal mechanisms of snake venom metalloproteinase auto-activation (2026 · 被引 1)
• Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder (2026 · Nature Genetics · 被引 1)