Found: 14

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  • Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
    By:
    • Sim, Joe C. H.;
    • White, Susan M.;
    • Fitzpatrick, Elizabeth;
    • Wilson, Gabrielle R.;
    • Gillies, Greta;
    • Pope, Kate;
    • Mountford, Hayley S.;
    • Torring, Pernille M.;
    • McKee, Shane;
    • Vulto-van Silfhout, Anneke T.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Leventer, Richard J.;
    • Delatycki, Martin B.;
    • Amor, David J.;
    • Lockhart, Paul J.
    Publication type:
    Article

  • Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

    Published in:
    2014
    By:
    • Sim, Joe C H;
    • White, Susan M;
    • Fitzpatrick, Elizabeth;
    • Wilson, Gabrielle R;
    • Gillies, Greta;
    • Pope, Kate;
    • Mountford, Hayley S;
    • Torring, Pernille M;
    • McKee, Shane;
    • Vulto-van Silfhout, Anneke T;
    • Jhangiani, Shalini N;
    • Muzny, Donna M;
    • Leventer, Richard J;
    • Delatycki, Martin B;
    • Amor, David J;
    • Lockhart, Paul J
    Publication type:
    journal article

  • Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 4, p. 1468, doi. 10.1172/JCI70372
    By:
    • Tucci, Valter;
    • Kleefstra, Tjitske;
    • Hardy, Andrea;
    • Heise, Ines;
    • Maggi, Silvia;
    • Willemsen, Marjolein H.;
    • Hilton, Helen;
    • Esapa, Chris;
    • Simon, Michelle;
    • Buenavista, Maria-Teresa;
    • McGuffin, Liam J.;
    • Vizor, Lucie;
    • Dodero, Luca;
    • Tsaftaris, Sotirios;
    • Romero, Rosario;
    • Nillesen, Willy N.;
    • Vissers, Lisenka E. L. M.;
    • Kempers, Marlies J.;
    • Vulto-van Silfhout, Anneke T.;
    • Iqbal, Zafar
    Publication type:
    Article

  • The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 315, doi. 10.1002/ajmg.c.31413
    By:
    • Vandeweyer, Geert;
    • Helsmoortel, Céline;
    • Van Dijck, Anke;
    • Vulto‐van Silfhout, Anneke T.;
    • Coe, Bradley P.;
    • Bernier, Raphael;
    • Gerdts, Jennifer;
    • Rooms, Liesbeth;
    • van den Ende, Jenneke;
    • Bakshi, Madhura;
    • Wilson, Meredith;
    • Nordgren, Ann;
    • Hendon, Laura G.;
    • Abdulrahman, Omar A.;
    • Romano, Corrado;
    • de Vries, Bert B.A.;
    • Kleefstra, Tjitske;
    • Eichler, Evan E.;
    • Van der Aa, Nathalie;
    • Kooy, R. Frank
    Publication type:
    Article

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay.

    Published in:
    Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
    By:
    • Coe, Bradley P;
    • Witherspoon, Kali;
    • Baker, Carl;
    • Krumm, Nik;
    • Shendure, Jay;
    • Lockhart, Paul J;
    • Scheffer, Ingrid E;
    • Tervo, Raymond;
    • Peeters, Hilde;
    • Thompson, Elizabeth;
    • Haan, Eric;
    • O'Roak, Brian J;
    • Fichera, Marco;
    • Gécz, Jozef;
    • Eichler, Evan E;
    • Rosenfeld, Jill A;
    • Torchia, Beth S;
    • van Bon, Bregje W M;
    • Vulto-van Silfhout, Anneke T;
    • Vissers, Lisenka E L M
    Publication type:
    Article

  • A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
    By:
    • Helsmoortel, Céline;
    • Vulto-van Silfhout, Anneke T;
    • Coe, Bradley P;
    • Vandeweyer, Geert;
    • Rooms, Liesbeth;
    • van den Ende, Jenneke;
    • Schuurs-Hoeijmakers, Janneke H M;
    • Marcelis, Carlo L;
    • Willemsen, Marjolein H;
    • Vissers, Lisenka E L M;
    • Yntema, Helger G;
    • Bakshi, Madhura;
    • Wilson, Meredith;
    • Witherspoon, Kali T;
    • Malmgren, Helena;
    • Nordgren, Ann;
    • Annerén, Göran;
    • Fichera, Marco;
    • Bosco, Paolo;
    • Romano, Corrado
    Publication type:
    Article

  • Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 4, p. 413, doi. 10.1111/cge.14563
    By:
    • Rad, Aboulfazl;
    • Bartsch, Oliver;
    • Bakhtiari, Somayeh;
    • Zhu, Changlian;
    • Xu, Yiran;
    • Monteiro, Fabíola P.;
    • Kok, Fernando;
    • Vulto‐van Silfhout, Anneke T.;
    • Kruer, Michael C.;
    • Bowl, Michael R.;
    • Vona, Barbara
    Publication type:
    Article

  • Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 10, p. 1960, doi. 10.1093/hmg/ddt043
    By:
    • Iqbal, Zafar;
    • Vandeweyer, Geert;
    • van der Voet, Monique;
    • Waryah, Ali Muhammad;
    • Zahoor, Muhammad Yasir;
    • Besseling, Judith A.;
    • Roca, Laura Tomas;
    • Vulto-van Silfhout, Anneke T.;
    • Nijhof, Bonnie;
    • Kramer, Jamie M.;
    • Van der Aa, Nathalie;
    • Ansar, Muhammad;
    • Peeters, Hilde;
    • Helsmoortel, Céline;
    • Gilissen, Christian;
    • Vissers, Lisenka E. L. M.;
    • Veltman, Joris A.;
    • de Brouwer, Arjan P. M.;
    • Kooy, R. Frank;
    • Riazuddin, Sheikh
    Publication type:
    Article

  • Pierpont syndrome: A collaborative study.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2203, doi. 10.1002/ajmg.a.34147
    By:
    • Wright, Emma M.M. Burkitt;
    • Suri, Mohnish;
    • White, Susan M.;
    • de Leeuw, Nicole;
    • Silfhout, Anneke T. Vulto-van;
    • Stewart, Fiona;
    • McKee, Shane;
    • Mansour, Sahar;
    • Connell, Fiona C;
    • Chopra, Maya;
    • Kirk, Edwin P.;
    • Devriendt, Koen;
    • Reardon, Willie;
    • Brunner, Han;
    • Donnai, Dian
    Publication type:
    Article

  • Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

    Published in:
    Human Mutation, 2020, v. 41, n. 8, p. 1407, doi. 10.1002/humu.24034
    By:
    • Thai, Monica H. N.;
    • Gardner, Alison;
    • Redpath, Laura;
    • Mattiske, Tessa;
    • Dearsley, Oliver;
    • Shaw, Marie;
    • Vulto‐van Silfhout, Anneke T.;
    • Pfundt, Rolph;
    • Dixon, Joanne;
    • McGaughran, Julie;
    • Pérez‐Jurado, Luis A.;
    • Gécz, Jozef;
    • Shoubridge, Cheryl
    Publication type:
    Article

  • Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

    Published in:
    Human Mutation, 2017, v. 38, n. 5, p. 594, doi. 10.1002/humu.23176
    By:
    • Vulto‐van Silfhout, Anneke T.;
    • Gilissen, Christian;
    • Goeman, Jelle J.;
    • Jansen, Sandra;
    • Amen‐Hellebrekers, Claudia J.M.;
    • Bon, Bregje W.M.;
    • Koolen, David A.;
    • Sistermans, Erik A.;
    • Brunner, Han G.;
    • Brouwer, Arjan P.M.;
    • Vries, Bert B.A.
    Publication type:
    Article

  • Variants in CUL4B are Associated with Cerebral Malformations.

    Published in:
    Human Mutation, 2015, v. 36, n. 1, p. 106, doi. 10.1002/humu.22718
    By:
    • Vulto‐van Silfhout, Anneke T.;
    • Nakagawa, Tadashi;
    • Bahi‐Buisson, Nadia;
    • Haas, Stefan A.;
    • Hu, Hao;
    • Bienek, Melanie;
    • Vissers, Lisenka E.L.M.;
    • Gilissen, Christian;
    • Tzschach, Andreas;
    • Busche, Andreas;
    • Müsebeck, Jörg;
    • Rump, Patrick;
    • Mathijssen, Inge B.;
    • Avela, Kristiina;
    • Somer, Mirja;
    • Doagu, Fatma;
    • Philips, Anju K.;
    • Rauch, Anita;
    • Baumer, Alessandra;
    • Voesenek, Krysta
    Publication type:
    Article

  • Coffin- Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients.

    Published in:
    Human Mutation, 2013, v. 34, n. 11, p. 1519, doi. 10.1002/humu.22394
    By:
    • Santen, Gijs W.E.;
    • Aten, Emmelien;
    • Vulto-van Silfhout, Anneke T.;
    • Pottinger, Caroline;
    • Bon, Bregje W.M.;
    • Minderhout, Ivonne J.H.M.;
    • Snowdowne, Ronelle;
    • Lans, Christian A.C.;
    • Boogaard, Merel;
    • Linssen, Margot M.L.;
    • Vijfhuizen, Linda;
    • Wielen, Michiel J.R.;
    • Vollebregt, M.J. (Ellen);
    • Breuning, Martijn H.;
    • Kriek, Marjolein;
    • Haeringen, Arie;
    • den Dunnen, Johan T.;
    • Hoischen, Alexander;
    • Clayton-Smith, Jill;
    • Vries, Bert B.A.
    Publication type:
    Article

  • Clinical Significance of De Novo and Inherited Copy-Number Variation.

    Published in:
    Human Mutation, 2013, v. 34, n. 12, p. 1679, doi. 10.1002/humu.22442
    By:
    • Vulto‐van Silfhout, Anneke T.;
    • Hehir‐Kwa, Jayne Y.;
    • Bon, Bregje W.M.;
    • Schuurs‐Hoeijmakers, Janneke H.M.;
    • Meader, Stephen;
    • Hellebrekers, Claudia J.M.;
    • Thoonen, Ilse J.M.;
    • Brouwer, Arjan P.M.;
    • Brunner, Han G.;
    • Webber, Caleb;
    • Pfundt, Rolph;
    • Leeuw, Nicole;
    • Vries, Bert B.A.
    Publication type:
    Article