Publications by authors named "Gerardo Fabian-Morales"
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach.
Mol Genet Genomic Med
October 2024
Article Synopsis
- Retinal dystrophies (RDs) are a leading cause of inherited blindness, linked to genetic defects in around 300 genes, and targeted next-generation sequencing (NGS) struggles to detect copy number variations (CNVs) vital for accurate diagnosis.
- * In a study of 30 unrelated Mexican RD patients with inconclusive results from exome sequencing (ES), CNV detection was performed using ExomeDepth software and verified through quantitative PCR assays.
- * Pathogenic CNVs were identified in 20% of cases, leading to definitive molecular diagnoses in 5 patients, emphasizing the importance of integrating bioinformatic CNV detection in RD diagnostics after ES.*
Osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by bone fragility and frequent fractures. While most cases are attributed to variations in collagen-coding genes and , other genes such as have also been associated with the disease, accounting for up to 5 % of cases. Here, we report a case of a 3-month-old female with a femur fracture and limb deformity.
View Article and Find Full Text PDFBackground: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.
View Article and Find Full Text PDFAtrioventricular septal defects (AVSDs) have been identified as intriguingly infrequent among Hispanics with Down syndrome (DS) born in the United States. The aim of this study was to evaluate the effect of possible maternal risk factors in the presence of congenital heart defects (CHDs) in Mexican infants with DS. A total of 231 live birth infants born with DS during 2009-2018 at the "Dr.
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