ArticleAmerican journal of medical genetics. Part A2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Article in American journal of medical genetics. Part A, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Decoding Genetic Disease Through the Skin: Lessons From the UDN.International journal of dermatology · 2026Article
- Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.Biomolecules · 2026Review
- Evaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.Public health genomics · 2026Article
- Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.JIMD reports · 2026Article
- The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.American journal of ophthalmology · 2025Article
- First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.Neurogenetics · 2025Article
- Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.American journal of human genetics · 2025Article
- Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.American journal of medical genetics. Part A · 2025Article
- Article
- The Clinical Spectrum of Mosaic Genetic Disease.Genes · 2024Review
- Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.American journal of medical genetics. Part A · 2024Article
- Data from electronic healthcare records expand our understanding of X-linked genetic diseases.American journal of medical genetics. Part A · 2024Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
The contribution of mosaicism to diagnosed genetic disease and presumed de novo variants (DNV) is under investigated. We determined the contribution of mosaic genetic disease (MGD) and diagnosed parental mosaicism (PM) in parents of offspring with reported DNV (in the same variant) in the (1) Undiagnosed Diseases Network (UDN) (N = 1946) and (2) in 12,472 individuals electronic health records (EHR) who underwent genetic testing at an academic medical center. In the UDN, we found 4.51% of diagnosed probands had MGD, and 2.86% of parents of those with DNV exhibited PM. In the EHR, we found 6.03% and 2.99% and (of diagnosed probands) had MGD detected on chromosomal microarray and exome/genome sequencing, respectively. We found 2.34% (of those with a presumed pathogenic DNV) had a parent with PM for the variant. We detected mosaicism (regardless of pathogenicity) in 4.49% of genetic tests performed. We found a broad phenotypic spectrum of MGD with previously unknown phenotypic phenomena. MGD is highly heterogeneous and provides a significant contribution to genetic diseases. Further work is required to improve the diagnosis of MGD and investigate how PM contributes to DNV risk.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.