Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S Anazi, S Maddirevula, E Faqeih, H Alsedairy… - Molecular …, 2017 - nature.com
… Despite the established diagnostic yield of genomic … Studies that evaluate the clinical
diagnostic yield of genomic … knowledge about the clinical diagnostic yield of genomic sequencing, …
diagnostic yield of genomic … knowledge about the clinical diagnostic yield of genomic sequencing, …
Diagnostic yield of intellectual disability gene panels
H Pekeles, A Accogli, N Boudrahem-Addour… - Pediatric …, 2019 - Elsevier
… diagnostic yield in clinical practice has not yet been investigated. In this study, our primary
objective was to determine the diagnostic yield of … associated with a greater diagnostic yield. …
objective was to determine the diagnostic yield of … associated with a greater diagnostic yield. …
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
F Martínez, A Caro-Llopis, M Roselló, S Oltra… - Journal of medical …, 2017 - jmg.bmj.com
… ) heterogeneity of ID and to assess the diagnostic yield of this new technology on a clinical
setting, we developed a panel of 1256 genes for diagnosis of syndromic ID. Here, we present …
setting, we developed a panel of 1256 genes for diagnosis of syndromic ID. Here, we present …
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis
A Stefanski, Y Calle‐López, C Leu, E Pérez‐Palma… - …, 2021 - Wiley Online Library
… review evaluated the diagnostic yield of next-… , our diagnostic yield for ES was lower than
the yield reported in the same study (27.2% vs 45%). Although the observed diagnostic yield of …
the yield reported in the same study (27.2% vs 45%). Although the observed diagnostic yield of …
[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
… There were differences in the diagnostic yields of different variation types among the three
… first-tier diagnostic test for ID with MCA subgroup and MES as the first-tier diagnostic test for …
… first-tier diagnostic test for ID with MCA subgroup and MES as the first-tier diagnostic test for …
[HTML][HTML] Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype …
AJC Leite, IP Pinto, N Leijsten… - PLoS …, 2022 - journals.plos.org
Intellectual Disability (ID) is a neurodevelopmental disorder … as a tool to increase the diagnostic
yield of patients with ID/GDD… karyotype results resulting in a diagnostic yield of 21.7% (18/…
yield of patients with ID/GDD… karyotype results resulting in a diagnostic yield of 21.7% (18/…
Establishing genetic diagnosis of intellectual disability in children: diagnostic yield of various genetic approaches
I Kalibataitė, V Rutkauskas, E Preikšaitienė… - Acta medica …, 2012 - zurnalai.vu.lt
… We have also evaluated the diagnostic yielding of different genetic methods to determine
the aetiology of ID / DD, with a focus on the following types of genetic tests: karyotype, FISH, …
the aetiology of ID / DD, with a focus on the following types of genetic tests: karyotype, FISH, …
Diagnostic value of a multidisciplinary clinic for intellectual disability
C van Karnebeek, T Murphy, W Giannasi… - Canadian Journal of …, 2014 - cambridge.org
… The diagnostic yield of the CDC was higher than expected with confirmed and working
diagnoses in 11 (46%) and 9 (38%) children respectively. Cost-savings included fewer trips to …
diagnoses in 11 (46%) and 9 (38%) children respectively. Cost-savings included fewer trips to …
Genetic approach to diagnosis of intellectual disability
RD Puri, M Tuteja, IC Verma - The Indian Journal of Pediatrics, 2016 - Springer
… Advances in technology, especially next generation sequencing and microarrays, have
greatly increased the diagnostic yield of evaluation in cases of ID. This paper describes the …
greatly increased the diagnostic yield of evaluation in cases of ID. This paper describes the …
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
… The diagnostic yield of GS in CMA only cases was high (64.3%, 9/14), while in ES only
families and CMA + ES families (9.7%, 6/62 and 25.0%, 6/24, respectively) the diagnostic yield of …
families and CMA + ES families (9.7%, 6/62 and 25.0%, 6/24, respectively) the diagnostic yield of …
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