Jacinta M. McMahon

机构：St Vincent's Hospital Melbourne · ORCID：0000-0001-8891-0049

发表论文 78 篇 · 总被引 6745 次 · h-index 41

代表论文

• Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 (2013 · Nature Genetics · 被引 707)
• Mortality in Dravet syndrome (2016 · Epilepsy Research · 被引 318)
• The phenotypic spectrum of SCN8A encephalopathy (2015 · Neurology · 被引 290)
• GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome (2014 · Neurology · 被引 264)
• SCN2A encephalopathy (2015 · Neurology · 被引 254)
• Rare copy number variants are an important cause of epileptic encephalopathies (2011 · Annals of Neurology · 被引 250)