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Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
Mol Autism. 2024 Sep 30;15(1):40. doi: 10.1186/s13229-024-00619-z.
Mol Autism. 2024.
PMID: 39350236
Free PMC article.
Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.
Kothari C, Wack M, Hassen-Khodja C, Finan S, Savova G, O'Boyle M, Bliss G, Cornell A, Horn EJ, Davis R, Jacobs J, Kohane I, Avillach P.
Kothari C, et al.
Am J Med Genet B Neuropsychiatr Genet. 2018 Oct;177(7):613-624. doi: 10.1002/ajmg.b.32579. Epub 2017 Sep 1.
Am J Med Genet B Neuropsychiatr Genet. 2018.
PMID: 28862395
Free PMC article.
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