P258: Phenotypic predictors of dual genetic diagnosis in people with autism

A major goal of SPARK (Simons Foundation Powering Autism Research for Knowledge), a cohort with sequencing data on 58,247 individuals with autism, is to return new genetic diagnoses related to autism. Previous analyses have shown that SPARK identified at least one likely pathogenic/pathogenic (LP/P) variant in 8.6% of autistic individuals, but the phenotypic presentations of people with more than one LP/P variant has not been investigated. The objective of this study was to characterize the phenotype of 102 individuals with two LP/P variants related to autism to identify phenotypic features that distinguish individuals with dual diagnoses.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102223
Primary Topic
Autism Spectrum Disorder Research
Type
article
Field-Weighted Citation Impact
0.00
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article

P258: Phenotypic predictors of dual genetic diagnosis in people with autism

Pamela Feliciano, Alexandra Goler, Jacob B. Hall, Jessica Wright et al.
1 links
Genetics in Medicine Open
Autism Spectrum Disorder Research
article

P258: Phenotypic predictors of dual genetic diagnosis in people with autism

Pamela Feliciano, Alexandra Goler, Jacob B. Hall, Jessica Wright, Wendy Chung
article en

Abstract

A major goal of SPARK (Simons Foundation Powering Autism Research for Knowledge), a cohort with sequencing data on 58,247 individuals with autism, is to return new genetic diagnoses related to autism. Previous analyses have shown that SPARK identified at least one likely pathogenic/pathogenic (LP/P) variant in 8.6% of autistic individuals, but the phenotypic presentations of people with more than one LP/P variant has not been investigated. The objective of this study was to characterize the phenotype of 102 individuals with two LP/P variants related to autism to identify phenotypic features that distinguish individuals with dual diagnoses.

Genetics in Medicine OpenVol. 3
Boston Children's Hospital (US), Simons Foundation (US)
Openalex Percentile: Top 95%
Autism Spectrum Disorder Research
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P258: Phenotypic predictors of dual genetic diagnosis in people with autism — Pamela Feliciano, Alexandra Goler, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS