Publications by authors named "H Vahidnezhad"
Ataxia with Vitamin E Deficiency (AVED) is a rare autosomal recessive genetic disorder, that caused by pathogenic variants in the TTPA gene, which encodes the alpha-tocopherol transfer protein. This study investigates eight patients from three consanguineous Iranian families, using exome sequencing (ES) and Sanger sequencing to identify novel pathogenic variants in the TTPA gene. Two variants were identified: c.
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- The study investigates the role of the DIAPH1 gene in a young Iranian boy with developmental issues and aims to understand the genetic and clinical features associated with DIAPH1-related disease.
- Researchers performed exome sequencing that identified a novel pathogenic genetic variant (c.1285C>T) linked to the patient's symptoms, which include developmental delay, microcephaly, and seizures.
- The findings suggest that the identified variant likely contributes to the patient's clinical condition and highlight a genotype-phenotype correlation by reviewing additional cases from the literature.
Article Synopsis
- The study analyzes how different familial structures influence the heritability and prediction accuracy of Type 2 Diabetes (T2D) using data from 11,818 individuals, including genetic information and family pedigrees.
- It identifies three familial structure scenarios to determine their impact on estimating heritability, highlighting that including families with various disease statuses leads to more accurate results.
- The research reveals that while familial structures enhance heritability estimations, omitting certain families can improve disease risk prediction and strengthen correlations with Polygenic Risk Scores.
Article Synopsis
- This study investigates secondary findings (SFs) from clinical next-generation sequencing in a large pediatric group, including many African-American participants, focusing on their types and frequencies.
- It uses specific criteria to identify pathogenic and likely pathogenic variants in established genes, assessing their potential health impacts on participants.
- The results reveal a total of 1464 pathogenic variants identified in over 16,700 participants, with notable frequencies in both ACMG and non-ACMG genes, such as TTR and CHEK2.