Bridget H. Maher

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch et al. · Nature Genetics · 2015 · 275 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Costin Leu, Simona Balestrini, Bridget H. Maher et al. · EBioMedicine · 2015 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo mutations of <i>KIAA2022</i> in females cause intellectual disability and intractable epilepsy

Iris Lange, Katherine L. Helbig, Sarah Weckhuysen et al. · Journal of Medical Genetics · 2016 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An X Chromosome Association Scan of the Norfolk Island Genetic Isolate Provides Evidence for a Novel Migraine Susceptibility Locus at Xq12

Bridget H. Maher, Rod A. Lea, Miles C. Benton et al. · PLoS ONE · 2012 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17