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

Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.

Clinical genetics - 1 Feb 2022

Terkelsen Thorkild, Brasch-Andersen Charlotte, Illum Niels, Busa Tiffany, Missirian Chantal, Chandler Kate, Holden Simon T, Jensen Uffe Birk, Fagerberg Christina R

Abstract excerpt

The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m6 A) modification of eukaryotic mRNA, which plays an essential role in regulating mRNA stability and is necessary to achieve normal development of the central nervous system in animal models. YTHDF3 has not previously been implicated in Mendelian disease despite a high probability of loss of function intolerance and...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 8

Share to Genetic Association Studies

Share to Loss of Heterozygosity

Share to Neurodevelopmental Disorders

Share to RNA-Binding Proteins

Share to Young Adult

Source

Identifiers

PMID: 34708403
DOI: 10.1111/cge.14083

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

Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.PMID 34708403Read ↗

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.Semantic proximity Read ↗

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.Semantic proximity Read ↗

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationshipsSemantic proximity Read ↗

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.Semantic proximity Read ↗

Clinical spectrum of individuals with de novo EBF3 variants or deletions.Semantic proximity Read ↗

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Semantic proximity Read ↗

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.Semantic proximity Read ↗

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.Semantic proximity Read ↗

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.Semantic proximity Read ↗

Variant-specific pathophysiological mechanisms of<i>AFF3</i>differently influence transcriptome profilesSemantic proximity Read ↗

DDX3X syndrome: From clinical phenotypes to biological insights.Semantic proximity Read ↗

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.Semantic proximity Read ↗

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