Edward M. Blair

机构：Nuffield Orthopaedic Centre, University of Oxford, Oxford BioMedica (United Kingdom)

发表论文 122 篇 · 总被引 10654 次 · h-index 51

代表论文

• Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples (2016 · Genetics in Medicine · 被引 772)
• Evidence for 28 genetic disorders discovered by combining healthcare and research data (2020 · Nature · 被引 699)
• High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies (2017 · The American Journal of Human Genetics · 被引 466)
• Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants (2018 · Genetics in Medicine · 被引 232)
• Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (2016 · Nature Genetics · 被引 151)
• Not all SCN1A epileptic encephalopathies are Dravet syndrome (2017 · Neurology · 被引 131)