Genomic study demonstrates high diagnostic yield of multimodal genomewide analysis in pediatric developmental disorders, highlighting the utility of comprehensive testing after prior inconclusive...
Among probands with severe, probably monogenic, difficult-to-diagnose developmental disorders, multimodal analysis of genomewide data had good diagnostic power, even after previous attempts at diagnosis. (Funded by the Health Innovation Challenge Fund and Wellcome Sanger Institute.).
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Wright et al. (2023) studied this question.
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