Martin Bobrow

机构：University of Cambridge

发表论文 306 篇 · 总被引 19541 次 · h-index 71

代表论文

• International network of cancer genome projects (2010 · Nature · 被引 2444)
• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (2009 · Nature Genetics · 被引 621)
• Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015 · Nature Communications · 被引 387)
• Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (2007 · Nature Genetics · 被引 301)
• Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (2016 · Nature Communications · 被引 260)
• Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor (2007 · The American Journal of Human Genetics · 被引 231)