Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism

Familial DNV analysis provides accurate effect estimates, a reliable basis for predicting clinical outcomes, and precise support while minimizing confounding from family background. This approach improves the identification of ASD-associated genes with true phenotypic effects by reducing variability, as well as genes with genuine phenotypic heterogeneity across families driven by mutation site. These findings enhance our understanding of ASD phenotype variability and inform potential targets for intervention.

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Publication Details

Journal
Genome Medicine
Published
2025-08-20
DOI
https://doi.org/10.1186/s13073-025-01532-7
Citations
1
Primary Topic
Autism Spectrum Disorder Research
Type
article
Field-Weighted Citation Impact
1.43

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article

Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism

Yoojeong Lee, Eunjoon Kim, Soo-Whee Kim, Donna M. Werling et al.
1 citations
Genome Medicine
Autism Spectrum Disorder Research
1.43
article

Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism

Yoojeong Lee, Eunjoon Kim, Soo-Whee Kim, Donna M. Werling, Ji Son, Ye Rim Kim, Joon‐Yong An, Stephan Sanders, Gang‐Hee Lee, Hyeji Lee, Jae Hyun Han, Jeewon Lee, So Hyun Kim, Hee Jung Byun, Hee Jeong Yoo, Da Yea Song
article en
1 citations

Abstract

Familial DNV analysis provides accurate effect estimates, a reliable basis for predicting clinical outcomes, and precise support while minimizing confounding from family background. This approach improves the identification of ASD-associated genes with true phenotypic effects by reducing variability, as well as genes with genuine phenotypic heterogeneity across families driven by mutation site. These findings enhance our understanding of ASD phenotype variability and inform potential targets for intervention.

Genome MedicineVol. 17(1)
University of Wisconsin–Madison (US), Seoul National University (KR), Korea Advanced Institute of Science and Technology (KR), University of California, San Francisco (US), Korea University (KR), Soonchunhyang University (KR), Seoul National University Bundang Hospital (KR), Institute for Basic Science (KR), Seoul National University Children's Hospital (KR), Regenerative Medicine Institute (MX)
Simons Foundation Autism Research Initiative, Korea University, National Research Foundation of Korea, Institute for Basic Science
Openalex Percentile: Top 16%
Autism Spectrum Disorder Research
1.43
DOIOpen Access PDFOpenAlex
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