Molecular diagnostic yield of exome sequencing and chromosomal microarray in short stature: a systematic review and meta-analysis

Q Li, Z Chen, J Wang, K Xu, X Fan, C Gong, Z Wu… - JAMA pediatrics - jamanetwork.com
Importance Currently, the diagnostic yield of exome sequencing (ES) and chromosomal
microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies …

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.

Q Li, Z Chen, J Wang, K Xu, X Fan, C Gong, Z Wu… - JAMA …, 2023 - europepmc.org
Results Twenty studies were included, comprising 1350 patients with short stature who
underwent ES and 1070 patients who completed CMA. The overall diagnostic yield of ES …

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis

Q Li, Z Chen, J Wang, K Xu, X Fan, C Gong… - JAMA … - pubmed.ncbi.nlm.nih.gov
Importance Currently, the diagnostic yield of exome sequencing (ES) and chromosomal
microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies …

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.

Q Li, Z Chen, J Wang, K Xu, X Fan, C Gong… - JAMA …, 2023 - search.ebscohost.com
Abstract Key Points: Question: What is the diagnostic yield of exome sequencing (ES) and
chromosomal microarray analysis (CMA) in cases of short stature? Findings: In this study …