Article

Evaluation of remote phenotyping in individuals with 3q29 deletion syndrome and development of a transdiagnostic screening protocol that can be deployed remotely

2025-10-02

Abstract excerpt

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 symptoms in 21...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e1a3a538-358f-502a-8e83-d5bb84e4fa79
DOI: 10.1101/2025.10.01.25336891

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evaluation of remote phenotyping in individuals with 3q29 deletion syndrome and development of a transdiagnostic screening protocol that can be deployed remotelyDOI 10.1101/2025.10.01.25336891Read

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

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.Semantic proximity Read

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.Semantic proximity Read

Comprehensive phenotyping of 3q29 deletion syndrome: recommendations for clinical careSemantic proximity Read

Beyond IQ: Executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndromeSemantic proximity Read

Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.Semantic proximity Read

Neuropsychiatric Phenotypes and a Distinct Constellation of ASD Features in 3q29 Deletion Syndrome: Results from the 3q29 RegistrySemantic proximity Read

Adaptive behavior deficits in individuals with 3q29 deletion syndromeSemantic proximity Read

Implementation of a Comprehensive Telehealth Assessment Battery for Complex Neurogenetic Disease: An Observational Study of Rapid-Onset Dystonia-ParkinsonismSemantic proximity Read

Functional Assessment and Impact of Seizures on Cognitive Outcome in a Cohort of Individuals with KBG SyndromeSemantic proximity Read

Shared and distinct genetic influences between cognitive domains and psychiatric disorder risk based on genome-wide dataSemantic proximity Read

Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severitySemantic proximity Read