Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Ilaria CatusiMaria Paola RecalcatiIlaria BestettiMaria GarzoChiara ValtortaMelissa AlfonsiAlberta AlghisiStefania CappellaniRosario CasaloneRossella CaselliCaterina CeccariniCarlo CegliaAnna Maria CiaschiniDomenico CovielloFrancesca CrostiAnnamaria D'AprileAntonella FabrettoRita GenesioMarzia GiagnacovoPaola GranataIlaria LongoMichela MalacarneGiuseppina MarsegliaAnnamaria MontaldiAnna Maria NardoneChiara PalkaVanna PecileChiara PessinaDiana PostorivoSerena RedaelliAlessandra RenieriChiara RigonFabiola TiberiMariella TonelliNicoletta VillaAnna ZilioDaniela ZuccarelloAntonio NovelliLidia LarizzaDaniela GiardinoPublished in: Molecular genetics & genomic medicine (2019)
Our retrospective study resulted in confirming the high detection rate of CMA and indicated new clinical markers useful to optimize their inclusion in the diagnostic and rehabilitative path of patients with developmental phenotypes.