Publications by authors named "G Rechavi"
Somatic variants in DNA damage response genes such as ATM are widespread in hematologic malignancies. ATM protein is essential for double-strand DNA break repair. Germline ATM deficiencies underlie ataxia-telangiectasia (A-T), a disease manifested by radiosensitivity, immunodeficiency, and predisposition to lymphoid malignancies.
View Article and Find Full Text PDFBackground: Ameloblastoma is a rare odontogenic neoplasm frequently located in the mandible. Standard treatment involves radical bone resection and immediate reconstruction, causing functional, aesthetic, and psychological impairments. The BRAF V600E mutation is present in approximately 80% of mandible ameloblastomas, and BRAF inhibitors have demonstrated sustained responses in unresectable cases.
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- This study focused on identifying genetic factors contributing to end-stage kidney disease (ESKD) in a minority group (Druze) in Israel, where existing data on genetic causes of chronic kidney disease are limited, particularly for minority populations.
- Researchers conducted whole-exome sequencing on 94 Druze patients undergoing dialysis, discovering genetic etiologies in about 18% of participants, including a novel WDR19 variant and other known genes associated with kidney disease.
- The findings highlight the importance of genetic testing in minority groups with high rates of chronic kidney disease, suggesting that certain genetic markers may go undiagnosed without comprehensive analysis, given that clinical diagnoses often did not match the final genetic results.
Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric subspecialties, it is not yet routinely used by general pediatric hospitalists. We aim to investigate the impact of exome sequencing in sequencing-naive children suspected of having monogenic disorders while receiving inpatient care.
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