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High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Lecoquierre F, Quenez O, Fourneaux S, Coutant S, Vezain M, Rolain M, Drouot N, Boland A, Olaso R, Meyer V, Deleuze JF, Dabbagh D, Gilles I, Gayet C, Saugier-Veber P, Goldenberg A, Guerrot AM, Nicolas G. Lecoquierre F, et al. Among authors: gilles i. Hum Genet. 2023 Jun;142(6):773-783. doi: 10.1007/s00439-023-02553-1. Epub 2023 Apr 19. Hum Genet. 2023. PMID: 37076692
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