Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Marjolein J A WeertsKristina LankoFrancisco J Guzmán-VegaAdam JacksonReshmi RamakrishnanKelly J Cardona-LondoñoKarla A Peña-GuerraYolande van BeverBarbara W van PaassenAnneke KievitMarjon van SlegtenhorstNicholas M AllenCaroline M KehoeHannah K RobinsonLewis PangSelina H BanuMashaya ZamanStephanie EfthymiouHenry HouldenIrma JärveläLeena LauronenTuomo MäättäIsabelle SchrauwenSuzanne M LealClaudia A L RuivenkampDaniela Q C M Barge-SchaapveldCacha M P C D Peeters-ScholteHamid GalehdariNeda MazaheriSanjay M SisodiyaVictoria HarrisonAngela SunJenny ThiesLuis Alberto PedrozaYana Lara-TaranchenkoIvan K ChinnJames R LupskiAlexandra Garza-FloresJeffery McGlothlinLin YangShaoping HuangXiaodong WangTamison JewettGretchen RossoXi LinShehla MohammedJ Lawrence MerrittGhayda M MirzaaAndrew E TimmsJoshua ScheckMariet W EltingAbeltje M PolstraLauren SchenckMaura R Z RuzhnikovAnnalisa VetroMartino MontomoliRenzo GuerriniDaniel C KoboldtTheresa Mihalic MosherMatthew T PastoreKim L McBrideJing PengZou PanMarjolein WillemsenSusanne KoningPeter D TurnpennyBert B A de VriesChristian GilissenRolph PfundtMelissa LeesStephen R BraddockKara C KlempFleur VansenneMarielle E van GijnCatherine QuindipanMatthew A DeardorffJ Austin HammAbbey M PutnamRebecca BaudLaurence WalshSally A LynchJulia BaptistaRichard E PersonKristin G MonaghanAmy CrunkJennifer Keller-RameyAdi ReichHouda Zghal ElloumiMarielle AldersJennifer KerkhofHaley McConkeySadegheh Haghshenasnull nullReza MaroofianBekim SadikovicSiddharth BankaStefan T AroldTahsin Stefan BarakatPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Insights from this extensive cohort will facilitate the counseling regarding the molecular and phenotypic landscape of newly diagnosed patients with the SETD1B-related syndrome.
Keyphrases