Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic.

doi:10.1016/j.gim.2024.101252

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Article

Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025

Wong Nicole R, Klomhaus Alexandra, Adams David J, Schneider Benjamin N, Mehta Sunil, DiStefano Charlotte, Wilson Rujuta B, Martinez-Agosto Julian A, Jeste Shafali S, Besterman Aaron D

Abstract excerpt

PURPOSE: This study aimed to identify phenotypic factors associated with genetic diagnoses in patients with neurodevelopmental disorders and generate a decision tree to assist clinicians in identifying patients most likely to receive a positive result on genetic testing. METHODS: We retrospectively reviewed the charts of 316 patients evaluated in a neurodevelopmental clinic between 2014 and 2019. Patients were...

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Topics

Humans
Female
Male
Genetic Testing
Child
Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Neurodevelopmental Disorders

Retrospective Studies

Infant

Phenotype

Tertiary Care Centers

Muscle Hypotonia

Adolescent

Decision Trees

Source

Open in PubMed Open full text

Identifiers

PMID: 39395029
DOI: 10.1016/j.gim.2024.101252
PMCID: PMC11717587

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