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

Parental mosaicism in de novo neurodevelopmental diseases.

American journal of medical genetics. Part A - 1 Jul 2021

Shu Li, Zhang Qianjun, Tian Qi, Yang Sai, Peng Xingwang, Mao Xiao, Yang Liming, Du Juan, Wang Hua

Abstract excerpt

Neurodevelopmental diseases are increasingly recognized to be caused by "de novo" variants with the expanding use of next-generation sequencing. The apparent de novo variants may actually be low-level hereditary parental mosaic variants, which could increase the recurrence risk of disease by >50% and is thought to be an underappreciated cause of neurodevelopmental diseases. Our study aimed to investigate the...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Counseling
Share to KCNQ2 Potassium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mosaicism

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to Neurodevelopmental Disorders

Share to Potassium Channels, Sodium-Activated

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 33851778
DOI: 10.1002/ajmg.a.62174

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

Parental mosaicism in de novo neurodevelopmental diseases.PMID 33851778Read ↗

The contribution of mosaicism to genetic diseases and de novo pathogenic variants.Semantic proximity Read ↗

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

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Semantic proximity Read ↗

The frontiers of sequencing in undiagnosed neurodevelopmental diseases.Semantic proximity Read ↗

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.Semantic proximity Read ↗

Prevalence and architecture of de novo mutations in developmental disorders.Semantic proximity Read ↗

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.Semantic proximity Read ↗

Human genetics and clinical aspects of neurodevelopmental disordersSemantic proximity Read ↗

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disordersSemantic proximity Read ↗

The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).Semantic proximity Read ↗

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disordersSemantic proximity Read ↗

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.Semantic proximity Read ↗

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