Marta A. Bayly

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 441 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +11

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 311 citations · Full text

Genetics, Neuroscience, Central Nervous System +3

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Leanne M. Dibbens, Saul A. Mullen, Heather C. Mefford et al. · Human Molecular Genetics · 2009 · 263 citations · Full text

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

Samuel F. Berkovic, Leanne M. Dibbens, Alicia Oshlack et al. · The American Journal of Human Genetics · 2008 · 255 citations · Full text

Rare Diseases, Systems Biology, Three Unrelated Subjects +10

Mutations in the mammalian target of rapamycin pathway regulators <i>NPRL2</i> and <i>NPRL3</i> cause focal epilepsy

Michael G. Ricos, Bree Hodgson, Tommaso Pippucci et al. · Annals of Neurology · 2015 · 229 citations · Full text