Open access
Jan 2026
Diagnostic Yield of Genome Sequencing in an Iranian Exome‐Negative Autosomal‐Recessive Intellectual Disability Cohort
In a challenging, ES‐negative ARID cohort, GS provided an additional ~5.3% diagnostic yield by uncovering a noncoding splice alteration and a large intragenic deletion and highlight significant interpretation challenges in noncoding regions.
Ebrahim Shokouhian, Masoumeh Moslemi, Masoumeh Goleyjani Moghadam et al.
· Human Mutation · 0 citations