Sinéad B. Heavin

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 694 citations · Full text

Life Sciences, Genetics, Neuroscience +14

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 423 citations · Full text

Life Sciences, Genetics, Neurology +9

Early and effective treatment of <i> <scp>KCNQ</scp> 2 </i> encephalopathy

Tiziana Pisano, Adam L. Numis, Sinéad B. Heavin et al. · Epilepsia · 2015 · 294 citations · Full text

Medicine, Neurology, Pharmacotherapy +17

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

H. Christian Martin, Grace Kim, A. T. Pagnamenta et al. · Human Molecular Genetics · 2014 · 258 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Extending the <i>KCNQ2</i> encephalopathy spectrum

Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx et al. · Neurology · 2013 · 220 citations · Full text

Life Sciences, Genetics, Neurology +16