Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
2010 · Nature Genetics · 571 citations
https://doi.org/10.1038/ng.589
S
Simone Berkel
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Simone Berkel is an academic researcher from Heidelberg University. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities & Autism Spectrum Disorder Research. The author has an h-index of 13, co-authored 17 publications.
ORCID: 0000-0002-5134-2217Papers by this author
worksIdentification and functional characterization of rare SHANK2 variants in schizophrenia
2015 · Molecular Psychiatry · 106 citations
https://doi.org/10.1038/mp.2014.172
A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders
2018 · Journal of Neurodevelopmental Disorders · 23 citations
https://doi.org/10.1186/s11689-018-9233-1
Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent
2020 · Stem Cell Research · 4 citations
https://doi.org/10.1016/j.scr.2020.102004
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