NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
NGS和基于表型本体的方法提高了综合征性视网膜疾病的诊断率
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-021-02343-7.
I Perea-Romero ,F Blanco-Kelly ,I Sanchez-Navarro ,I Lorda-Sanchez ,S Tahsin-Swafiri ,A Avila-Fernandez ,I Martin-Merida ,M J Trujillo-Tiebas ,R Lopez-Rodriguez ,M Rodriguez de Alba ,I F Iancu ,R Romero ,M Quinodoz ,H Hakonarson ,Blanca Garcia-Sandova ,P Minguez ,M Corton ,C Rivolta ,C Ayuso
