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Genetic causation for the majority of non‐obstructive azoospermia (NOA) remains unclear. Mutations in synaptonemal complex (SC)‐associated genes could cause meiotic arrest and NOA. Previous studies showed that heterozygous truncating variants in SYCP2 encoding a protein essential for SC formation, are associated with non‐obstructive azoospermia and severe oligozoospermia. Herein, we showed a homozygous...
Emerging evidence demonstrates the clinical utility of genomic applications in newborn intensive care unit (NICU) patients with strong indications of Mendelian etiology. However, such applications' diagnostic yield and utility remain unclear for NICU cohorts with minimal phenotype selection. In this study, focused medical exome sequencing was used as a first‐tier, singleton‐focused diagnostic tool...