Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Laura Castilla-VallmanyaKaja K SelmerClémantine DimartinoRaquel RabionetBernardo Blanco-SánchezSandra YangMargot R F ReijndersAntonie J van EssenMyriam OufademMagnus D VigelandBarbro StadheimGunnar HougeHelen CoxHelen KingstonJill Clayton-SmithJeffrey W InnisMaria IasconeAnna CeredaSara GabbiadiniWendy K ChungVictoria SandersJoel CharrowEmily BryantJohn MillichapAntonio VitobelloChristel ThauvinFrederic Tran Mau-ThemLaurence FaivreGaetan LescaAudrey LabalmeChristelle RougeotNicolas ChatronDamien SanlavilleKatherine M ChristensenAmelia KirbyRaymond LewandowskiRachel GannawayMaha AlyAnna LehmanLorne ClarkeLuitgard Graul-NeumannChristiane ZweierDavor LesselBernarda LozicIngvild AukrustRyan PeretzRobert StrattonThomas SmolAnne Dieux-CoëslierJoanna MeiraElizabeth WohlerNara SobreiraErin M BeaverJennifer HeeleyLauren C BriereFrances A HighDavid A SweetserMelissa A WalkerCatherine E KeeganParul JayakarMarwan ShinawiWilhelmina S Kerstjens-FrederikseDawn L EarlVictoria M SiuEmma ReesorTony YaoRobert A HegeleOlena M VaskeShannon Regonull nullKevin A ShapiroBrian WongMichael J GambelloMarie McDonaldDanielle KarlowiczRoberto ColomboAlessandro SerrettiLynn PaisAnne O'Donnell-LuriaAlison WraySimon SadedinBelinda ChongTiong Y TanJohn ChristodoulouSusan M WhiteAnne SlavotinekDeborah BarbouthDayna Morel SwolsMélanie ParisotChristine Bole-FeysotPatrick NitschkéVéronique PingaultArnold MunnichMegan T ChoValérie Cormier-DaireSusanna BalcellsStanislas LyonnetDaniel GrinbergJeanne AmielRoser UrreiztiChristopher T GordonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies.