Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Mubeen KhanStéphanie S CornelisMarta Del Pozo-ValeroLaura WhelanEsmee H RunhartKetan MishraFemke BultsYahya AlSwaitiAlaa AlTalbishiElfride De BaereSandro BanfiEyal BaninMiriam BauwensTamar Ben-YosefCamiel J F BoonL Ingeborgh van den BornSabine DefoortAurore DevosAdrian DockeryLubica DudakovaAna FakinG Jane FarrarJuliana Maria Ferraz SallumKaoru FujinamiChristian GilissenDamjan GlavačMichael B GorinJacquie GreenbergTakaaki HayashiYmkje M HettingaAlexander HoischenCarel B HoyngKarsten HufendiekHerbert JägleSmaragda KamakariMarianthi KaraliUlrich KellnerCaroline C W KlaverBohdan KousalTina M LameyIan M MacDonaldAnna MatyniaTerri L McLarenMarcela D MenaIsabelle MeunierRianne MillerHadas NewmanBuhle NtoziniMonika OldakMarc PieterseOsvaldo L PodhajcerBernard PuechRaj RamesarKlaus RütherManar SalamehMariana Vallim SallesDror SharonFrancesca SimonelliGeorg SpitalMarloes SteehouwerJacek P SzaflikJennifer A ThompsonCaroline ThuillierAnna M TracewskaMartine van ZweedenAndrea L VincentXavier ZanlonghiPetra LiskovaHeidi StöhrJohn N De RoachCarmen AyusoLisa RobertsBernhard H F WeberClaire-Marie DhaenensFrans P M CremersPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Deep sequencing of ABCA4 and midigene-based splice assays allowed the identification of SVs and causal deep-intronic variants in 25% of biallelic STGD1 cases, which represents a model study that can be applied to other inherited diseases.