Publications by authors named "L Matyakhina"
Rare copy-number variants (rCNVs) include deletions and duplications that occur infrequently in the global human population and can confer substantial risk for disease. In this study, we aimed to quantify the properties of haploinsufficiency (i.e.
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- The original article had a typo in the Results section where Subject 17 was mistakenly referred to as Subject 1.
- This Correction article provides the accurate statement regarding the subjects.
- The original article has since been updated to reflect this correction.
Article Synopsis
- Neurodevelopmental disorders are diverse and can involve developmental delay, intellectual disability, and autism spectrum disorders, with a few mutations linked to the TCF20 gene potentially causing these issues.
- Using exome sequencing and microarray analysis, researchers identified numerous damaging variants in the TCF20 gene within affected individuals and families.
- The study found 25 unique pathogenic variants in TCF20 across 32 patients, with common symptoms like developmental delay, intellectual disability, and hypotonia, suggesting a new syndrome similar to Smith-Magenis syndrome.
Objective: We sought to determine the positive predictive value (PPV) of noninvasive prenatal screening (NIPS) for various aneuploidies based on cases referred for follow-up cytogenetic testing. Secondarily, we wanted to determine the false-negative (FN) rate for those cases with a negative NIPS result.
Study Design: We compared the cytogenetic findings (primarily from chromosome analysis) from 216 cases referred to our laboratories with either a positive or negative NIPS result, and classified NIPS results as true positive, false positive, true negative, or FN.
Purpose: Detection of copy-number variation (CNV) is important for investigating many genetic disorders. Testing a large clinical cohort by array comparative genomic hybridization provides a deep perspective on the spectrum of pathogenic CNV. In this context, we describe a bioinformatics approach to extract CNV information from whole-exome sequencing and demonstrate its utility in clinical testing.
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