Elena Repnikova

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2011 · 246 citations · Full text

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana et al. · European Journal of Human Genetics · 2013 · 86 citations · Full text

Neurodevelopmental Disorders, Reciprocal Deletion, Psychiatry +9

Sialyltransferase Regulates Nervous System Function in Drosophila

Elena Repnikova, Kate Koles, Michiko Nakamura et al. · Journal of Neuroscience · 2010 · 74 citations · Full text

The <i>twisted</i> Gene Encodes Drosophila Protein <i>O-</i>Mannosyltransferase 2 and Genetically Interacts With the <i>rotated abdomen</i> Gene Encoding Drosophila Protein <i>O-</i>Mannosyltransferase 1

Dmitry Lyalin, Kate Koles, Sigrid D. Roosendaal et al. · Genetics · 2005 · 49 citations · Full text

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés et al. · Genetics in Medicine · 2021 · 48 citations · Full text

Molecular Neuroscience, Corticobasal Degeneration, Neurological Disorder +8