An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis. - Bolte A; Velmans C; Netzer C; Thimm E; Tuncel AT; Bürger F; Hiersche M; Betz C; Bolz HJ (Human genomics, 2026)