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- [3] De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (05) : 962 - 973Chilton, IlanaOkur, VolkanVitiello, GiuseppinaSelicorni, AngeloMariani, MilenaGoldenberg, AliceHusson, ThomasCampion, DominiqueLichtenbelt, Klaske D.van Gassen, KoenSteinraths, MichelleRice, JenniferRoeder, Elizabeth R.Littlejohn, Rebecca O.Srour, MyriamSebire, GuillaumeAccogli, AndreaHeron, DelphineHeide, SolveigNava, CarolineDepienne, ChristelLarson, AustinNiyazov, DmitriyAzage, MeronHoganson, GeorgeBurton, JenniferRush, Eric T.Jenkins, Janda L.Saunders, Carol J.Thiffault, IsabelleAlaimo, Joseph T.Fleischer, JulieGroepper, DanielGripp, Karen W.Chung, Wendy K.
- [4] Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderGENETICS IN MEDICINE, 2022, 24 (08) : 1774 - 1780Cuinat, SilvestreNizon, MathildeIsidor, BertrandStegmann, Alexandervan Jaarsveld, Richard H.van Gassen, Koen L.van der Smagt, Jasper J.Volker-Touw, Catharina M. L.Holwerda, Sjoerd J. B.Terhal, Paulien A.Schuhmann, SarahVasileiou, GeorgiaKhalifa, MohamedNugud, Alaa A.Yasaei, HemadOusager, Lilian BommeBrasch-Andersen, CharlotteDeb, WallidBesnard, ThomasSimon, Marleen E. H.Huijsdens-van Amsterdam, KarinVerbeek, Nienke E.Matalon, DenaDykzeul, NatalieWhite, ShanaSpiteri, ElizabethDevriendt, KoenBoogaerts, AnneleenWillemsen, MarjoleinBrunner, Han G.Sinnema, MargjeDe Vries, Bert B. A.Gerkes, Erica H.Pfundt, RolphIzumi, KosukeKrantz, Ian D.Xu, Zhou L.Murrell, Jill R.Valenzuela, IreneCusco, IvonRovira-Moreno, EulaliaYang, YapingBizaoui, VaroonaPatat, OlivierFaivre, LaurenceTran-Mau-Them, FredericVitobello, AntonioDenomme-Pichon, Anne-SophiePhilippe, ChristopheBezieau, Stephane
- [5] Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderANNALS OF NEUROLOGY, 2024,Blackburn, Patrick R.Ebstein, FredericHsieh, Tzung-ChienMotta, MarialetiziaRadio, Francesca ClementinaHerkert, Johanna C.Rinne, TuulaThiffault, IsabelleRapp, MicheleAlders, MarielMaas, SaskiaGerard, BenedicteSmol, ThomasVincent-Delorme, CatherineCogne, BenjaminIsidor, BertrandVincent, MarieBachmann-Gagescu, RuxandraRauch, AnitaJoset, PascalFerrero, Giovanni BattistaCiolfi, AndreaHusson, ThomasGuerrot, Anne-MarieBacino, CarlosMacmurdo, ColleenThompson, Stephanie S.Rosenfeld, Jill A.Faivre, LaurenceMau-Them, Frederic TranDeb, WallidVignard, VirginieAgrawal, Pankaj B.Madden, Jill A.Goldenberg, AliceLecoquierre, FrancoisZech, MichaelProkisch, HolgerNecpal, JanJech, RobertWinkelmann, JulianeKoprusakova, Monika TurcanovaKonstantopoulou, VassilikiYounce, John R.Shinawi, MarwanMighton, ChloeFung, CharlotteMorel, Chantal F.Lerner-Ellis, JordanDitroia, Stephanie
- [6] LOSS-OF-FUNCTION VARIANTS IN CUL3 CAUSE A SYNDROMIC NEURODEVELOPMENTAL DISORDEREUROPEAN NEUROPSYCHOPHARMACOLOGY, 2024, 87 : 235 - 235Wang, TianyunBlackburn, PatrickEbstein, FredericHsieh, Tzung-ChienMotta, MarialetiziaRadio, Francesca ClementinaHerkert, JohannaRinne, TuulaKrueger, ElkeBezieau, StephaneKlinkhammer, HannahKrawitz, Peter MichaelEichler, EvanTartaglia, MarcoKuery, Sebastien
- [7] ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variantsneurogenetics, 2021, 22 : 263 - 269Katja KlothBernarda LozicJulia TagoeMariëtte J. V. HofferAmelie Van der VenHolger ThieleJanine AltmüllerChristian KubischPing Yee Billie AuJonas DeneckeEmilia K. BijlsmaDavor Lessel
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- [9] Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndromeGENETICS IN MEDICINE, 2022, 24 (11) : 2399 - 2407Oh, Rachel YoujinDeshwar, Ashish R.Marwaha, AshishSabha, NesrinTropak, MichaelHou, HuayunYuki, Kyoko E.Wilson, Michael D.Rump, PatrickLunsing, RoelinekeElserafy, NohaChung, Clara W. T.Hewson, StacyKlein-Rodewald, TanjaCalzada-Wack, JuliaSanz-Moreno, AdrianKraiger, MarkusMarschall, SusanFuchs, HelmutGailus-Durner, Valeriede Angelis, Martin HrabeDowling, JamesSchulze, Andreas
- [10] Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotypeEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 355 - 356Zanoni, P.Steindl, K.Sengupta, D.Sticht, H.Joset, P.Baar, A.van Ravenswaaij-Arts, C. M. A.Shinawi, M.Maystadt, I.Belnap, N.Benoit, V.de Vries, B. B. A.Lacombe, D.Larson, A.Pfundt, R.Ramsey, K.Blok, L. SnijdersWheeler, P. G.Wevers, M. R.Gozani, O.Rauch, A.