P369: Clinical genome sequencing in the neurodevelopmental clinic: A single center experience

A growing number of genes are associated with neurodevelopmental disorders and highlight the overlapping genetic architecture of autism spectrum disorder (ASD) and intellectual disability (ID). Children with ASD are often identified first by psychologists or neurologists and the extent of genetic testing or genetics referral is variable. Applying clinical genome sequencing (cGS) has the potential to circumvent the diagnostic odyssey through timely molecular diagnosis. Here we report the findings of a prospective study of the diagnostic efficacy and utility of cGS in a clinical ASD cohort.

Authors

Institutions

Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102334
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

P369: Clinical genome sequencing in the neurodevelopmental clinic: A single center experience

Themba Carr, Atul Jindal, Edwin F. Juarez, Kristen M. Wigby et al.
1 links
Genetics in Medicine Open
Genomics and Rare Diseases
article

P369: Clinical genome sequencing in the neurodevelopmental clinic: A single center experience

Themba Carr, Atul Jindal, Edwin F. Juarez, Kristen M. Wigby, Viridiana Murillo, Matthew Bainbridge, Jennifer Friedman, Jerica Lenberg, Lauren Gist
article en

Abstract

A growing number of genes are associated with neurodevelopmental disorders and highlight the overlapping genetic architecture of autism spectrum disorder (ASD) and intellectual disability (ID). Children with ASD are often identified first by psychologists or neurologists and the extent of genetic testing or genetics referral is variable. Applying clinical genome sequencing (cGS) has the potential to circumvent the diagnostic odyssey through timely molecular diagnosis. Here we report the findings of a prospective study of the diagnostic efficacy and utility of cGS in a clinical ASD cohort.

Genetics in Medicine OpenVol. 3
Children’s Institute (US), Rady Children's Hospital-San Diego (US), Universidad Católica Santo Domingo (DO)
Zero hunger
Openalex Percentile: Top 94%
Genomics and Rare Diseases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

P369: Clinical genome sequencing in the neurodevelopmental clinic: A single center experience — Themba Carr, Atul Jindal, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS