Found: 19

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  • Meier-Gorlin syndrome.

    Published in:
    2015
    By:
    • de Munnik, Sonja A.;
    • Hoefsloot, Elisabeth H.;
    • Roukema, Jolt;
    • Schoots, Jeroen;
    • Knoers, Nine V. A. M.;
    • Brunner, Han G.;
    • Jackson, Andrew P.;
    • Bongers, Ernie M. H. F.;
    • Knoers, Nine Vam;
    • Bongers, Ernie Mhf
    Publication type:
    journal article

  • The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
    By:
    • Nikkel, Sarah M.;
    • Dauber, Andrew;
    • De Munnik, Sonja;
    • Connolly, Meghan;
    • Hood, Rebecca L.;
    • Caluseriu, Oana;
    • Hurst, Jane;
    • Kini, Usha;
    • Nowaczyk, Malgorzata J. M.;
    • Afenjar, Alexandra;
    • Albrecht, Beate;
    • Allanson, Judith E.;
    • Balestri, Paolo;
    • Ben-Omran, Tawfeg;
    • Brancati, Francesco;
    • Cordeiro, Isabel;
    • Santos da Cunha, Bruna;
    • Delaney, Louisa A.;
    • Destrée, Anne;
    • Fitzpatrick, David
    Publication type:
    Article

  • The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Published in:
    2013
    By:
    • Nikkel, Sarah M;
    • Dauber, Andrew;
    • de Munnik, Sonja;
    • Connolly, Meghan;
    • Hood, Rebecca L;
    • Caluseriu, Oana;
    • Hurst, Jane;
    • Kini, Usha;
    • Nowaczyk, Malgorzata J M;
    • Afenjar, Alexandra;
    • Albrecht, Beate;
    • Allanson, Judith E;
    • Balestri, Paolo;
    • Ben-Omran, Tawfeg;
    • Brancati, Francesco;
    • Cordeiro, Isabel;
    • da Cunha, Bruna Santos;
    • Delaney, Louisa A;
    • Destrée, Anne;
    • Fitzpatrick, David
    Publication type:
    journal article

  • Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 539, doi. 10.1210/clinem/dgaa795
    By:
    • van Geest, Ferdy S.;
    • Meima, Marcel E.;
    • Stuurman, Kyra E.;
    • Wolf, Nicole I.;
    • van der Knaap, Marjo S.;
    • Lorea, Cláudia F.;
    • Poswar, Fabiano O.;
    • Vairo, Filippo;
    • Brunetti-Pierri, Nicola;
    • Cappuccio, Gerarda;
    • Bakhtiani, Priyanka;
    • de Munnik, Sonja A.;
    • Peeters, Robin P.;
    • Edward Visser, W.;
    • Groeneweg, Stefan
    Publication type:
    Article

  • Central 22q11.2 deletions.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711
    By:
    • Rump, Patrick;
    • de Leeuw, Nicole;
    • van Essen, Anthonie J.;
    • Verschuuren‐Bemelmans, Corien C.;
    • Veenstra‐Knol, Hermine E.;
    • Swinkels, Mariëlle E.M.;
    • Oostdijk, Wilma;
    • Ruivenkamp, Claudia;
    • Reardon, Willie;
    • de Munnik, Sonja;
    • Ruiter, Mariken;
    • Frumkin, Ayala;
    • Lev, Dorit;
    • Evers, Christina;
    • Sikkema‐Raddatz, Birgit;
    • Dijkhuizen, Trijnie;
    • van Ravenswaaij‐Arts, Conny M.
    Publication type:
    Article

  • Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
    By:
    • de Munnik, Sonja A.;
    • Otten, Barto J.;
    • Schoots, Jeroen;
    • Bicknell, Louise S.;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y.;
    • van Bever, Yolande;
    • Bober, Michael B.;
    • Borm, George F.;
    • Clayton-Smith, Jill;
    • Deal, Cheri L.;
    • Edrees, Alaa Y.;
    • Feingold, Murray;
    • Fryer, Alan;
    • van Hagen, Johanna M.;
    • Hennekam, Raoul C.;
    • Jansweijer, Maaike C.E.;
    • Johnson, Diana;
    • Kant, Sarina G.;
    • Opitz, John M.
    Publication type:
    Article

  • Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1006864
    By:
    • Koemans, Tom S.;
    • Kleefstra, Tjitske;
    • Chubak, Melissa C.;
    • Stone, Max H.;
    • Reijnders, Margot R. F.;
    • de Munnik, Sonja;
    • Willemsen, Marjolein H.;
    • Fenckova, Michaela;
    • Stumpel, Connie T. R. M.;
    • Bok, Levinus A.;
    • Sifuentes Saenz, Margarita;
    • Byerly, Kyna A.;
    • Baughn, Linda B.;
    • Stegmann, Alexander P. A.;
    • Pfundt, Rolph;
    • Zhou, Huiqing;
    • van Bokhoven, Hans;
    • Schenck, Annette;
    • Kramer, Jamie M.
    Publication type:
    Article

  • TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45948-y
    By:
    • Werren, Elizabeth A.;
    • LaForce, Geneva R.;
    • Srivastava, Anshika;
    • Perillo, Delia R.;
    • Li, Shaokun;
    • Johnson, Katherine;
    • Baris, Safa;
    • Berger, Brandon;
    • Regan, Samantha L.;
    • Pfennig, Christian D.;
    • de Munnik, Sonja;
    • Pfundt, Rolph;
    • Hebbar, Malavika;
    • Jimenez-Heredia, Raúl;
    • Karakoc-Aydiner, Elif;
    • Ozen, Ahmet;
    • Dmytrus, Jasmin;
    • Krolo, Ana;
    • Corning, Ken;
    • Prijoles, E. J.
    Publication type:
    Article

  • TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45948-y
    By:
    • Werren, Elizabeth A.;
    • LaForce, Geneva R.;
    • Srivastava, Anshika;
    • Perillo, Delia R.;
    • Li, Shaokun;
    • Johnson, Katherine;
    • Baris, Safa;
    • Berger, Brandon;
    • Regan, Samantha L.;
    • Pfennig, Christian D.;
    • de Munnik, Sonja;
    • Pfundt, Rolph;
    • Hebbar, Malavika;
    • Jimenez-Heredia, Raúl;
    • Karakoc-Aydiner, Elif;
    • Ozen, Ahmet;
    • Dmytrus, Jasmin;
    • Krolo, Ana;
    • Corning, Ken;
    • Prijoles, E. J.
    Publication type:
    Article

  • Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
    By:
    • Ockeloen, Charlotte W;
    • Willemsen, Marjolein H;
    • de Munnik, Sonja;
    • van Bon, Bregje WM;
    • de Leeuw, Nicole;
    • Verrips, Aad;
    • Kant, Sarina G;
    • Jones, Elizabeth A;
    • Brunner, Han G;
    • van Loon, Rosa LE;
    • Smeets, Eric EJ;
    • van Haelst, Mieke M;
    • van Haaften, Gijs;
    • Nordgren, Ann;
    • Malmgren, Helena;
    • Grigelioniene, Giedre;
    • Vermeer, Sascha;
    • Louro, Pedro;
    • Ramos, Lina;
    • Maal, Thomas JJ
    Publication type:
    Article

  • Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
    By:
    • Ockeloen, Charlotte W;
    • Willemsen, Marjolein H;
    • de Munnik, Sonja;
    • van Bon, Bregje WM;
    • de Leeuw, Nicole;
    • Verrips, Aad;
    • Kant, Sarina G;
    • Jones, Elizabeth A;
    • Brunner, Han G;
    • van Loon, Rosa LE;
    • Smeets, Eric EJ;
    • van Haelst, Mieke M;
    • van Haaften, Gijs;
    • Nordgren, Ann;
    • Malmgren, Helena;
    • Grigelioniene, Giedre;
    • Vermeer, Sascha;
    • Louro, Pedro;
    • Ramos, Lina;
    • Maal, Thomas JJ
    Publication type:
    Article

  • Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 6, p. 803, doi. 10.1038/ejhg.2014.173
    By:
    • Beunders, Gea;
    • de Munnik, Sonja A;
    • Van der Aa, Nathalie;
    • Ceulemans, Berten;
    • Voorhoeve, Els;
    • Groffen, Alexander J;
    • Nillesen, Willy M;
    • Meijers-Heijboer, Elizabeth J;
    • Frank Kooy, R;
    • Yntema, Helger G;
    • Sistermans, Erik A
    Publication type:
    Article

  • A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 6, p. 844, doi. 10.1038/ejhg.2013.249
    By:
    • de Munnik, Sonja A;
    • García-Miñaúr, Sixto;
    • Hoischen, Alexander;
    • van Bon, Bregje W;
    • Boycott, Kym M;
    • Schoots, Jeroen;
    • Hoefsloot, Lies H;
    • Knoers, Nine VAM;
    • Bongers, Ernie MHF;
    • Brunner, Han G
    Publication type:
    Article

  • Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
    By:
    • de Munnik, Sonja A;
    • Bicknell, Louise S;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y;
    • van Bever, Yolande;
    • Bober, Michael B;
    • Clayton-Smith, Jill;
    • Edrees, Alaa Y;
    • Feingold, Murray;
    • Fryer, Alan;
    • van Hagen, Johanna M;
    • Hennekam, Raoul C;
    • Jansweijer, Maaike C E;
    • Johnson, Diana;
    • Kant, Sarina G;
    • Opitz, John M;
    • Ramadevi, A Radha;
    • Reardon, Willie;
    • Ross, Alison;
    • Sarda, Pierre
    Publication type:
    Article

  • Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

    Published in:
    eLife, 2022, p. 1, doi. 10.7554/eLife.78469
    By:
    • Hebert, Anne;
    • Simons, Annet;
    • Schuurs-Hoeijmakers, Janneke H. M.;
    • Koenen, Hans J. P. M.;
    • Zonneveld-Huijssoon, Evelien;
    • Henriet, Stefanie S. V.;
    • Schatorjé, Ellen J. H.;
    • Hoppenreijs, Esther P. A. H.;
    • Leenders, Erika K. S. M.;
    • Janssen, Etienne J. M.;
    • Santen, Gijs W. E.;
    • de Munnik, Sonja A.;
    • van Reijmersdal, Simon V.;
    • van Rijssen, Esther;
    • Kersten, Simone;
    • Netea, Mihai G.;
    • Smeets, Ruben L.;
    • van de Veerdonk, Frank L.;
    • Hoischen, Alexander;
    • van der Made, Caspar I.
    Publication type:
    Article

  • Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

    Published in:
    Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 393, doi. 10.1002/mgg3.387
    By:
    • van der Schoot, Vyne;
    • de Munnik, Sonja;
    • Venselaar, Hanka;
    • Elting, Mariet;
    • Mancini, Grazia M. S.;
    • Ravenswaaij-Arts, Conny M. A.;
    • Anderlid, Britt-Marie;
    • Brunner, Han G.;
    • Stevens, Servi J. C.
    Publication type:
    Article

  • All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience.

    Published in:
    Prenatal Diagnosis, 2023, v. 43, n. 4, p. 527, doi. 10.1002/pd.6314
    By:
    • Faas, Brigitte H. W.;
    • Westra, Dineke;
    • de Munnik, Sonja A.;
    • van Rij, Maartje;
    • Marcelis, Carlo;
    • Joosten, Sara;
    • Krapels, Ingrid;
    • Vernimmen, Vivian;
    • Heijligers, Malou;
    • Willemsen, Marjolein H.;
    • de Leeuw, Nicole;
    • Rinne, Tuula;
    • Pfundt, Rolph;
    • Smeekens, Sanne P.;
    • Stegmann, Sander P. A.;
    • Macville, Merryn;
    • Sikkel, Esther;
    • Coumans, Audrey;
    • Wijnberger, Lia;
    • Derks, Irma
    Publication type:
    Article

  • Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.

    Published in:
    Haemophilia, 2019, v. 25, n. 1, p. 127, doi. 10.1111/hae.13638
    By:
    • Blijlevens, Nicole M. A.;
    • Smit, Yolba;
    • Saes, Joline L.;
    • Schols, Saskia E. M.;
    • van Heerde, Waander L.;
    • Brons, Paul P.;
    • Simons, Annet;
    • de Munnik, Sonja A.;
    • Jongmans, Marjolijn C.;
    • Nijziel, Marten R.;
    • van der Reijden, Bert A.
    Publication type:
    Article

  • Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-51508-1
    By:
    • Janssen, Anouk E. J.;
    • Koeck, Rebekka M.;
    • Essers, Rick;
    • Cao, Ping;
    • van Dijk, Wanwisa;
    • Drüsedau, Marion;
    • Meekels, Jeroen;
    • Yaldiz, Burcu;
    • van de Vorst, Maartje;
    • de Koning, Bart;
    • Hellebrekers, Debby M. E. I.;
    • Stevens, Servi J. C.;
    • Sun, Su Ming;
    • Heijligers, Malou;
    • de Munnik, Sonja A.;
    • van Uum, Chris M. J.;
    • Achten, Jelle;
    • Hamers, Lars;
    • Naghdi, Marjan;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article