Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The contribution of mosaicism to genetic diseases and de novo pathogenic variants.

American journal of medical genetics. Part A - 1 Oct 2023

Tinker Rory J, Bastarache Lisa, Ezell Kimberly, Kobren Shilpa Nadimpalli, Esteves Cecilia, Rosenfeld Jill A, Macnamara Ellen F, Hamid Rizwan, Cogan Joy D, Rinker David, Mukharjee Souhrid, Glass Ian, Dipple Katrina, Phillips John A

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exome
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Mosaicism

Share to Parents

Source

Open in PubMed Open full text

Identifiers

PMID: 37246601
DOI: 10.1002/ajmg.a.63309
PMCID: PMC11167532

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The contribution of mosaicism to genetic diseases and de novo pathogenic variants.PMID 37246601Read ↗

Parental mosaicism in de novo neurodevelopmental diseases.Semantic proximity Read ↗

Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.Semantic proximity Read ↗

The Clinical Spectrum of Mosaic Genetic Disease.Semantic proximity Read ↗

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Semantic proximity Read ↗

Mosaicism in Human Health and Disease.Semantic proximity Read ↗

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.Semantic proximity Read ↗

A six-attribute classification of genetic mosaicism.Semantic proximity Read ↗

Detecting somatic mosaicism: considerations and clinical implications.Semantic proximity Read ↗

Unrevealed mosaicism in the next-generation sequencing era.Semantic proximity Read ↗

MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Diseases and Asymptomatic Human IndividualsSemantic proximity Read ↗

Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.Semantic proximity Read ↗

Somatic mosaicism: implications for disease and transmission genetics.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.