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Article

Development and Validation of a Cross-Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome.

Journal of intellectual disability research : JIDR - 1 Jul 2026

Pollak R M, Sefik E, Klaiman C, Harner M K, Bishop D V, Purcell J R, Irving T, Saulnier C A, Pulver S, Cubells J F, Walker E F, Murphy M M, Mulle J G

Abstract excerpt

BACKGROUND: Advances in genomics have resulted in a rapid expansion of the number of known rare genetic disorders (RGDs). However, the low frequency of RGDs presents a challenge for accurately describing the phenotypic spectrum of a given disorder. Remote phenotyping strategies are uniquely poised to address this knowledge gap. Here, we have piloted remote evaluation of cognitive ability and psychosis spectrum...

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Identifiers

PMID: 42090187
DOI: 10.1111/jir.70116
PMCID: PMC13238388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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