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ID diagnostic yield. Rate of ID diagnosis in different studies, indicated by the name of the first author and the year of publication. Coloured rectangles correspond to the methodology used in each study [2, 5, 21, 24, 26–28, 67, 76, 77, 85–87, 91, 92, 186–192]. FISH - fluorescent in situ hybridization; CMA - chromosomal microarray; TNGS - Targeted-NGS; ES - exome sequencing; GS - genome sequencing
