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

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Frontiers of medicine - 1 Feb 2024

Sun Liwei, Yang Xueting, Khan Amjad, Yu Xue, Zhang Han, Han Shirui, Habulieti Xiaerbati, Sun Yang, Wang Rongrong, Zhang Xue

Abstract excerpt

Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine. Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation. Here, a Pakistani family with parental consanguinity was presented, characterized with severe intellectual disability (ID), spastic paraplegia, and deafness....

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Membrane Proteins

Share to Neurodevelopmental Disorders

Share to Pedigree

Share to Phospholipases

Source

Identifiers

PMID: 37837560
DOI: 10.1007/s11684-023-1006-x

Genes

TMEM141
DDHD2
LHFPL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.PMID 37837560Read ↗

Genetic heterogeneity in Pakistani microcephaly families revisited.Semantic proximity Read ↗

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneitySemantic proximity Read ↗

The genetic architecture of monogenic neurodevelopmental disorders in Pakistan: a systematic review, 2006–2024Semantic proximity Read ↗

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.Semantic proximity Read ↗

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.Semantic proximity Read ↗

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.Semantic proximity Read ↗

NeuroSCORE: A Genome-wide Omics-Based Model to Identify Candidate Disease Genes of the Central Nervous SystemSemantic proximity Read ↗

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.Semantic proximity Read ↗

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.Semantic proximity Read ↗

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.Semantic proximity Read ↗

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.Semantic proximity Read ↗

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.Semantic proximity Read ↗

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