Publications by authors named "L Youssefian"
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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- 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.
Article Synopsis
- * A new whole-transcriptome sequencing pipeline has been developed to analyze the virome and host genetics from a single skin biopsy, allowing for the identification of multiple viruses present in patients.
- * In a study involving six Iranian patients with viral skin lesions related to immune deficiencies, multiple viral infections were identified, highlighting the effectiveness of this sequencing method in diagnosing complex viral conditions.
FMS-related tyrosine kinase 3 ligand (FLT3L), encoded by FLT3LG, is a hematopoietic factor essential for the development of natural killer (NK) cells, B cells, and dendritic cells (DCs) in mice. We describe three humans homozygous for a loss-of-function FLT3LG variant with a history of various recurrent infections, including severe cutaneous warts. The patients' bone marrow (BM) was hypoplastic, with low levels of hematopoietic progenitors, particularly myeloid and B cell precursors.
View Article and Find Full Text PDFInherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17 Iranian families with heritable photosensitivity syndromes was evaluated to identify their genetic defect. The patients' DNA was analyzed with either whole-exome sequencing or RNA sequencing (RNA-Seq).
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