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

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.

American journal of medical genetics. Part A - 1 Jul 2018

Alsahli Saud, Arold Stefan T, Alfares Ahmed, Alhaddad Bader, Al Balwi Mohammed, Kamsteeg Erik-Jan, Al-Twaijri Waleed, Alfadhel Majid

Abstract excerpt

Intellectual disability (ID) and global developmental delay are closely related; the latter is reserved for children under the age of 5 years as it is challenging to reliably assess clinical severity in this population. ID is a common condition, with up to 1%-3% of the population being affected and leading to a huge social and economic impact. ID is attributed to genetic abnormalities most of the time; however,...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genes, Recessive

Share to Intellectual Disability

Share to Kinesins

Share to Protein Conformation

Share to Syndrome

Source

Identifiers

PMID: 29736960
DOI: 10.1002/ajmg.a.38723

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

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.PMID 29736960Read ↗

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.Semantic proximity Read ↗

Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.Semantic proximity Read ↗

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Semantic proximity Read ↗

Expanding the genetic heterogeneity of intellectual disability.Semantic proximity Read ↗

Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.Semantic proximity Read ↗

A Novel Missense ZBTB18 Mutation Identified in an Intellectual Disability Family by Whole Genome SequencingSemantic proximity Read ↗

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophySemantic proximity Read ↗

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.Semantic proximity Read ↗

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability and structural brain abnormalitiesSemantic proximity Read ↗

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.Semantic proximity Read ↗

Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.Semantic proximity Read ↗

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.Semantic proximity Read ↗

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