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

Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.

BMC medical genomics - 17 Nov 2021

Wang Ching-Yuan, Tang Yen-An, Lee I-Wen, Chang Fong-Ming, Chien Chun-Wei, Pan Hsien-An, Sun H Sunny

Abstract excerpt

BACKGROUND: Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in both non-lethal and lethal SD. The traditional prenatal diagnosis of SD using ultrasonography suffers from lower accuracy and performed at latter gestational stage. Therefore, it remains in...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Testing
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Reproducibility of Results

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 34789231
DOI: 10.1186/s12920-021-01063-1
PMCID: PMC8600686

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.PMID 34789231Read ↗

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome SequencingSemantic proximity Read ↗

Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.Semantic proximity Read ↗

Diagnostic Utility of Next-Generation Sequencing-Based Panel Testing in 543 Patients with Suspected Skeletal DysplasiaSemantic proximity Read ↗

Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 CasesSemantic proximity Read ↗

Diagnostic yield of exome sequencing in fetuses with skeletal dysplasia: systematic review and meta-analysisSemantic proximity Read ↗

Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.Semantic proximity Read ↗

Diagnostic Yield of Rare Skeletal Dysplasia Conditions in the Radiogenomics Era – A UK ExperienceSemantic proximity Read ↗

Whole Exome Sequencing Aids The Diagnosis of Fetal Skeletal DysplasiaSemantic proximity Read ↗

Genetic analysis of 55 cases with fetal skeletal dysplasiaSemantic proximity Read ↗

Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort studySemantic proximity Read ↗

Application of whole-exome sequencing technology in clarifying 269 cases of fetal skeletal system disordersSemantic proximity Read ↗

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.Semantic proximity Read ↗

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