Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Simone Berkel, Christian R. Marshall, Jennifer Howe, +11

Nature Genetics

Neurodevelopmental DisordersSynaptic PlasticityMolecular NeuroscienceSyndromic AutismGenetic Disorder +12

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Simone Berkel, Wannan Tang, Mario Treviño, +7

Human Molecular Genetics

Brain DevelopmentGeneticsSynaptic TransmissionDevelopmental NeuroscienceSocial Sciences +20

Identification and functional characterization of rare SHANK2 variants in schizophrenia

Slavil Peykov, Simone Berkel, Michael Schoen, +9

Molecular Psychiatry

Sex Hormones Regulate SHANK Expression

Simone Berkel, Ahmed Eltokhi, Henning Fröhlich, +4

Frontiers in Molecular Neuroscience

Investigation of <i>SHANK3</i> in schizophrenia

Ana de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, +11

American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

Ahmed Eltokhi, Miguel A. Gonzalez‐Lozano, Lars‐Lennart Oettl, +10

Molecular Psychiatry

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders

Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, +2

Journal of Neurodevelopmental Disorders

Homozygous missense mutation in the <i>LMAN2L</i> gene segregates with intellectual disability in a large consanguineous Pakistani family

Rafiullah Rafiullah, Muhammad Aslamkhan, Nagarajan Paramasivam, +7

Journal of Medical Genetics

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

Christine Unsicker, Flavia-Bianca Cristian, Manja von Hahn, +3

Scientific Reports

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

Rafiullah Rafiullah, Alyssa B. Long, Anna Ivanova, +12

European Journal of Human Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic Disease +7