Molecular diagnostic yield of exome sequencing and chromosomal microarray in cerebral palsy: a systematic review and meta-analysis
S Srivastava, SA Lewis, JS Cohen, B Zhang… - JAMA …, 2022 - jamanetwork.com
… analysis quantifying overall diagnostic yield while accounting for clinical factors which may
mediate this yield… to perform meta-analysis quantifying overall diagnostic yield of CMA for CP …
mediate this yield… to perform meta-analysis quantifying overall diagnostic yield of CMA for CP …
[HTML][HTML] Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic …
… -genome sequencing (WGS) and whole-exome sequencing (… and causally related to a
molecular diagnosis into an overall “… interpretation and diagnostic yield: the diagnostic utility was …
molecular diagnosis into an overall “… interpretation and diagnostic yield: the diagnostic utility was …
[HTML][HTML] … disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
AJC Leite, IP Pinto, N Leijsten… - PLoS …, 2022 - journals.plos.org
… thereby increasing the genetic diagnostic yield of ID. NGS … sequencing provides a molecular
diagnostic yield of nearly 25% and has been progressively applied for molecular diagnosis …
diagnostic yield of nearly 25% and has been progressively applied for molecular diagnosis …
[HTML][HTML] Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
… chromosomal microarray analysis and targeted gene … Genome-wide analysis by clinical
whole-exome sequencing (… Patients without a molecular genetic diagnosis were eligible …
whole-exome sequencing (… Patients without a molecular genetic diagnosis were eligible …
[HTML][HTML] … disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
AJ da Cunha Leite, IP Pinto, N Leijsten… - PLoS One, 2022 - ncbi.nlm.nih.gov
… thereby increasing the genetic diagnostic yield of ID. NGS … sequencing provides a molecular
diagnostic yield of nearly 25% and has been progressively applied for molecular diagnosis …
diagnostic yield of nearly 25% and has been progressively applied for molecular diagnosis …
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
M Yechieli, S Gulsuner, H Ben-Pazi, A Fattal… - Journal of Medical …, 2022 - jmg.bmj.com
… the diagnostic yields of CMA and WES for cryptogenic CP and to identify differences in yield
based on … We hope these observations will assist clinicians in planning molecular diagnostic …
based on … We hope these observations will assist clinicians in planning molecular diagnostic …
[HTML][HTML] The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
J Wang, Y Wang, L Wang, WY Chen, M Sheng - BMC medical genomics, 2020 - Springer
… Chromosome microarray (CMA) is recommended as the first-… rate (~ 10%) of whole exome
sequencing for ID patients as … ID have still not received a molecular diagnosis in our study (Fig…
sequencing for ID patients as … ID have still not received a molecular diagnosis in our study (Fig…
[HTML][HTML] Molecular diagnostic experience of whole-exome sequencing in adult patients
… the diagnostic yield and … chromosomal microarray or repeat expansion analysis may not
have been performed prior to WES. The greater clinical availability of molecular diagnostic tools …
have been performed prior to WES. The greater clinical availability of molecular diagnostic tools …
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
KEM Diderich, K Romijn, M Joosten… - Acta Obstetricia et …, 2021 - Wiley Online Library
… chromosomal microarray, routine prenatal whole exome sequencing (WES) will improve
prenatal diagnostic yield… for additional molecular testing, so we were especially interested in the …
prenatal diagnostic yield… for additional molecular testing, so we were especially interested in the …
Incremental yield of whole‐genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and …
N Shreeve, C Sproule, KW Choy… - … in Obstetrics & …, 2024 - Wiley Online Library
… to selecting fetal anomaly cases with optimal diagnostic yield for prenatal ES. Inclusion criteria
… Whole-genome sequencing is more powerful than whole-exome sequencing for detecting …
… Whole-genome sequencing is more powerful than whole-exome sequencing for detecting …