Marta A. Bayly
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Glycogen Storage Diseases and Myoclonus, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Neurological disorders and treatments
Most-Cited Works
- → X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment(2008)444 cited
- → A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy(2014)313 cited
- → Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance(2009)263 cited
- → Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis(2008)255 cited
- → Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy(2015)232 cited
- → Epilepsy and mental retardation limited to females: an under-recognized disorder(2008)193 cited
- → Copy number variants are frequent in genetic generalized epilepsy with intellectual disability(2013)186 cited
- → Mutations in KCNT1 cause a spectrum of focal epilepsies(2015)149 cited
- → A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia(2011)123 cited
- → SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure(2009)95 cited