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 X-linked coding variation to severe developmental disorders.

Nature communications - 27 Jan 2021

Martin Hilary C, Gardner Eugene J, Samocha Kaitlin E, Kaplanis Joanna, Akawi Nadia, Sifrim Alejandro, Eberhardt Ruth Y, Tavares Ana Lisa Taylor, Neville Matthew D C, Niemi Mari E K, Gallone Giuseppe, McRae Jeremy, Wright Caroline F, FitzPatrick David R, Firth Helen V, Hurles Matthew E

Abstract excerpt

Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genes, X-Linked

Share to Genetic Diseases, X-Linked

Share to Inheritance Patterns

Share to Multifactorial Inheritance

Share to Sex Characteristics

Source

Open in PubMed Open full text

Identifiers

PMID: 33504798
DOI: 10.1038/s41467-020-20852-3
PMCID: PMC7840967

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The contribution of X-linked coding variation to severe developmental disorders.PMID 33504798Read ↗

The contribution of X-linked coding variation to severe developmental disordersSemantic proximity Read ↗

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

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populationsSemantic proximity Read ↗

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.Semantic proximity Read ↗

Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders StudySemantic proximity Read ↗

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

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

Large Genetic Study Uncovers 14 New Genes Responsible for Developmental Disorders in Children.Semantic proximity Read ↗

Non-coding variants upstream of<i>MEF2C</i>cause severe developmental disorder through three distinct loss-of-function mechanismsSemantic proximity Read ↗

Quantifying the contribution of recessive coding variation to developmental disordersSemantic proximity Read ↗

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.Semantic proximity Read ↗

Non-coding variants are a rare cause of recessive developmental disorders<i>in trans</i>with coding variantsSemantic proximity Read ↗

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