Publications by authors named "Racheli Goldfarb-Yaacobi"
Article Synopsis
- Rapid trio genome sequencing (rtGS) is being implemented in Israeli neonatal intensive care units (NICUs) to provide advanced care for critically ill newborns suspected of having genetic issues.
- A study conducted from October 2021 to December 2022 involved 130 neonates, leading to a diagnostic rate of 50% for disease-causing genetic variants and 11% for variants of unknown significance (VUS).
- Results showed a mean turnaround time for rapid reports of 7 days, with high engagement from medical staff regarding the clinical utility of the results (82% response rate to questionnaires).
CHD3 heterozygous variants are associated with Snijders Blok-Campeau syndrome (SBCS) which consists of intellectual disability (ID), macrocephaly, and dysmorphic facies. Most reported variants are missense or loss of function clustered within the ATPase/helicase domain of the protein. We report a severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings, each inherited from a mildly affected parent.
View Article and Find Full Text PDFObjective: Large deletions and duplications account for 65%-80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD was initiated in Israel in 2020. We assessed the carrier rate and spectrum of variants detected in a cohort of women screened for DMD carrier status and analyzed screening efficacy and challenges related to DMD population screening.
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