Found: 15

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  • Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 11, p. 2177, doi. 10.1093/hmg/ddt070
    By:
    • Frank, Valeska;
    • Habbig, Sandra;
    • Bartram, Malte P.;
    • Eisenberger, Tobias;
    • Veenstra-Knol, Hermine E.;
    • Decker, Christian;
    • Boorsma, Reinder A.C.;
    • Göbel, Heike;
    • Nürnberg, Gudrun;
    • Griessmann, Anabel;
    • Franke, Mareike;
    • Borgal, Lori;
    • Kohli, Priyanka;
    • Völker, Linus A.;
    • Dötsch, Jörg;
    • Nürnberg, Peter;
    • Benzing, Thomas;
    • Bolz, Hanno J.;
    • Johnson, Colin;
    • Gerkes, Erica H.
    Publication type:
    Article

  • Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0649-3
    By:
    • Arts, Peer;
    • Simons, Annet;
    • AlZahrani, Mofareh S.;
    • Yilmaz, Elanur;
    • AlIdrissi, Eman;
    • van Aerde, Koen J.;
    • Alenezi, Njood;
    • AlGhamdi, Hamza A.;
    • AlJubab, Hadeel A.;
    • Al-Hussaini, Abdulrahman A.;
    • AlManjomi, Fahad;
    • Alsaad, Alaa B.;
    • Alsaleem, Badr;
    • Andijani, Abdulrahman A.;
    • Asery, Ali;
    • Ballourah, Walid;
    • Bleeker-Rovers, Chantal P.;
    • van Deuren, Marcel;
    • van der Flier, Michiel;
    • Gerkes, Erica H.
    Publication type:
    Article

  • A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
    By:
    • van der Sluijs, Pleuntje J.;
    • Alders, Mariëlle;
    • Dingemans, Alexander J. M.;
    • Parbhoo, Kareesma;
    • van Bon, Bregje W.;
    • Dempsey, Jennifer C.;
    • Doherty, Dan;
    • den Dunnen, Johan T.;
    • Gerkes, Erica H.;
    • Milller, Ilana M.;
    • Moortgat, Stephanie;
    • Regier, Debra S.;
    • Ruivenkamp, Claudia A. L.;
    • Schmalz, Betsy;
    • Smol, Thomas;
    • Stuurman, Kyra E.;
    • Vincent-Delorme, Catherine;
    • de Vries, Bert B. A.;
    • Sadikovic, Bekim;
    • Hickey, Scott E.
    Publication type:
    Article

  • Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 2, p. 161, doi. 10.1038/ejhg.2011.174
    By:
    • Hanemaaijer, Nicolien M;
    • Sikkema-Raddatz, Birgit;
    • van der Vries, Gerben;
    • Dijkhuizen, Trijnie;
    • Hordijk, Roel;
    • van Essen, Anthonie J;
    • Veenstra-Knol, Hermine E;
    • Kerstjens-Frederikse, Wilhelmina S;
    • Herkert, Johanna C;
    • Gerkes, Erica H;
    • Leegte, Lamberta K;
    • Kok, Klaas;
    • Sinke, Richard J;
    • van Ravenswaaij-Arts, Conny M A
    Publication type:
    Article

  • Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 4, p. 429, doi. 10.1038/ejhg.2009.192
    By:
    • Willemsen, Marjolein H.;
    • Fernandez, Bridget A.;
    • Bacino, Carlos A.;
    • Gerkes, Erica;
    • de Brouwer, Arjan P. M.;
    • Pfundt, Rolph;
    • Sikkema-Raddatz, Birgit;
    • Scherer, Stephen W.;
    • Marshall, Christian R.;
    • Potocki, Lorraine;
    • van Bokhoven, Hans;
    • Kleefstra, Tjitske
    Publication type:
    Article

  • The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

    Published in:
    Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02189-1
    By:
    • Dingemans, Alexander J. M.;
    • Truijen, Kim M. G.;
    • van de Ven, Sam;
    • Bernier, Raphael;
    • Bongers, Ernie M. H. F.;
    • Bouman, Arjan;
    • de Graaff – Herder, Laura;
    • Eichler, Evan E.;
    • Gerkes, Erica H.;
    • De Geus, Christa M.;
    • van Hagen, Johanna M.;
    • Jansen, Philip R.;
    • Kerkhof, Jennifer;
    • Kievit, Anneke J. A.;
    • Kleefstra, Tjitske;
    • Maas, Saskia M.;
    • de Man, Stella A.;
    • McConkey, Haley;
    • Patterson, Wesley G.;
    • Dobson, Amy T.
    Publication type:
    Article

  • Variants in nuclear factor I genes influence growth and development.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 611, doi. 10.1002/ajmg.c.31747
    By:
    • Zenker, Martin;
    • Bunt, Jens;
    • Schanze, Ina;
    • Schanze, Denny;
    • Piper, Michael;
    • Priolo, Manuela;
    • Gerkes, Erica H.;
    • Gronostajski, Richard M.;
    • Richards, Linda J.;
    • Vogt, Julie;
    • Wessels, Marja W.;
    • Hennekam, Raoul C.
    Publication type:
    Article

  • Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
    By:
    • Béna, Frédérique;
    • Bruno, Damien L.;
    • Eriksson, Mats;
    • van Ravenswaaij‐Arts, Conny;
    • Stark, Zornitza;
    • Dijkhuizen, Trijnie;
    • Gerkes, Erica;
    • Gimelli, Stefania;
    • Ganesamoorthy, Devika;
    • Thuresson, Ann Charlotte;
    • Labalme, Audrey;
    • Till, Marianne;
    • Bilan, Frédéric;
    • Pasquier, Laurent;
    • Kitzis, Alain;
    • Dubourgm, Christele;
    • Rossi, Massimiliano;
    • Bottani, Armand;
    • Gagnebin, Maryline;
    • Sanlaville, Damien
    Publication type:
    Article

  • Primrose syndrome: Characterization of the phenotype in 42 patients.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 6, p. 890, doi. 10.1111/cge.13749
    By:
    • Melis, Daniela;
    • Carvalho, Daniel;
    • Barbaro‐Dieber, Tina;
    • Espay, Alberto J.;
    • Gambello, Michael J.;
    • Gener, Blanca;
    • Gerkes, Erica;
    • Hitzert, Marrit M.;
    • Hove, Hanne B.;
    • Jansen, Sandra;
    • Jira, Petr E.;
    • Lachlan, Katherine;
    • Menke, Leonie A.;
    • Narayanan, Vinodh;
    • Ortiz, Damara;
    • Overwater, Eline;
    • Posmyk, Renata;
    • Ramsey, Keri;
    • Rossi, Alessandro;
    • Sandoval, Renata Lazari
    Publication type:
    Article

  • Germline AGO2 mutations impair RNA interference and human neurological development.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19572-5
    By:
    • Lessel, Davor;
    • Zeitler, Daniela M.;
    • Reijnders, Margot R. F.;
    • Kazantsev, Andriy;
    • Hassani Nia, Fatemeh;
    • Bartholomäus, Alexander;
    • Martens, Victoria;
    • Bruckmann, Astrid;
    • Graus, Veronika;
    • McConkie-Rosell, Allyn;
    • McDonald, Marie;
    • Lozic, Bernarda;
    • Tan, Ee-Shien;
    • Gerkes, Erica;
    • Johannsen, Jessika;
    • Denecke, Jonas;
    • Telegrafi, Aida;
    • Zonneveld-Huijssoon, Evelien;
    • Lemmink, Henny H.;
    • Cham, Breana W. M.
    Publication type:
    Article

  • Genome sequencing in families with congenital limb malformations.

    Published in:
    Human Genetics, 2021, v. 140, n. 8, p. 1229, doi. 10.1007/s00439-021-02295-y
    By:
    • Elsner, Jonas;
    • Mensah, Martin A.;
    • Holtgrewe, Manuel;
    • Hertzberg, Jakob;
    • Bigoni, Stefania;
    • Busche, Andreas;
    • Coutelier, Marie;
    • de Silva, Deepthi C.;
    • Elçioglu, Nursel;
    • Filges, Isabel;
    • Gerkes, Erica;
    • Girisha, Katta M.;
    • Graul-Neumann, Luitgard;
    • Jamsheer, Aleksander;
    • Krawitz, Peter;
    • Kurth, Ingo;
    • Markus, Susanne;
    • Megarbane, Andre;
    • Reis, André;
    • Reuter, Miriam S.
    Publication type:
    Article

  • Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

    Published in:
    Human Genetics, 2017, v. 136, n. 7, p. 821, doi. 10.1007/s00439-017-1795-6
    By:
    • Bramswig, Nuria;
    • Lüdecke, Hermann-Josef;
    • Hamdan, Fadi;
    • Altmüller, Janine;
    • Beleggia, Filippo;
    • Elcioglu, Nursel;
    • Freyer, Catharine;
    • Gerkes, Erica;
    • Demirkol, Yasemin;
    • Knupp, Kelly;
    • Kuechler, Alma;
    • Li, Yun;
    • Lowenstein, Daniel;
    • Michaud, Jacques;
    • Park, Kristen;
    • Stegmann, Alexander;
    • Veenstra-Knol, Hermine;
    • Wieland, Thomas;
    • Wollnik, Bernd;
    • Engels, Hartmut
    Publication type:
    Article

  • Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10649-4
    By:
    • Deelen, Patrick;
    • van Dam, Sipko;
    • Herkert, Johanna C.;
    • Karjalainen, Juha M.;
    • Brugge, Harm;
    • Abbott, Kristin M.;
    • van Diemen, Cleo C.;
    • van der Zwaag, Paul A.;
    • Gerkes, Erica H.;
    • Zonneveld-Huijssoon, Evelien;
    • Boer-Bergsma, Jelkje J.;
    • Folkertsma, Pytrik;
    • Gillett, Tessa;
    • van der Velde, K. Joeri;
    • Kanninga, Roan;
    • van den Akker, Peter C.;
    • Jan, Sabrina Z.;
    • Hoorntje, Edgar T.;
    • te Rijdt, Wouter P.;
    • Vos, Yvonne J.
    Publication type:
    Article

  • ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 1042, doi. 10.1002/humu.24001
    By:
    • Yates, Thabo M.;
    • Drucker, Morgan;
    • Barnicoat, Angela;
    • Low, Karen;
    • Gerkes, Erica H.;
    • Fry, Andrew E.;
    • Parker, Michael J.;
    • O'Driscoll, Mary;
    • Charles, Perrine;
    • Cox, Helen;
    • Marey, Isabelle;
    • Keren, Boris;
    • Rinne, Tuula;
    • McEntagart, Meriel;
    • Ramachandran, Vijaya;
    • Drury, Suzanne;
    • Vansenne, Fleur;
    • Sival, Deborah A.;
    • Herkert, Johanna C.;
    • Callewaert, Bert
    Publication type:
    Article

  • CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
    By:
    • Menke, Leonie A.;
    • van Belzen, Martine J.;
    • Alders, Marielle;
    • Cristofoli, Francesca;
    • Ehmke, Nadja;
    • Fergelot, Patricia;
    • Foster, Alison;
    • Gerkes, Erica H.;
    • Hoffer, Mariëtte J. V.;
    • Horn, Denise;
    • Kant, Sarina G.;
    • Lacombe, Didier;
    • Leon, Eyby;
    • Maas, Saskia M.;
    • Melis, Daniela;
    • Muto, Valentina;
    • Park, Soo‐Mi;
    • Peeters, Hilde;
    • Peters, Dorien J. M.;
    • Pfundt, Rolph
    Publication type:
    Article