Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
2020 · Cell · 2,318 citations
https://doi.org/10.1016/j.cell.2019.12.036
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Alexander Kolevzon
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Alexander Kolevzon is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Autism Spectrum Disorder Research & Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 51, co-authored 191 publications.
ORCID: 0000-0001-8129-2671Papers by this author
worksProspective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
2013 · Molecular Autism · 342 citations
https://doi.org/10.1186/2040-2392-4-18
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
2014 · Journal of Neurodevelopmental Disorders · 159 citations
https://doi.org/10.1186/1866-1955-6-39
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome
2014 · Molecular Autism · 136 citations
https://doi.org/10.1186/2040-2392-5-54
Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID
2015 · Molecular Autism · 95 citations
https://doi.org/10.1186/s13229-015-0020-5
Prospective investigation of FOXP1 syndrome
2017 · Molecular Autism · 90 citations
https://doi.org/10.1186/s13229-017-0172-6
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