Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.

doi:10.1002/ajmg.b.32579

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Article

Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Oct 2018

Kothari Cartik, Wack Maxime, Hassen-Khodja Claire, Finan Sean, Savova Guergana, O'Boyle Megan, Bliss Geraldine, Cornell Andria, Horn Elizabeth J, Davis Rebecca, Jacobs Jacquelyn, Kohane Isaac, Avillach Paul

Abstract excerpt

The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome...

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Identifiers

PMID: 28862395
DOI: 10.1002/ajmg.b.32579
PMCID: PMC5832521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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