Works matching AU Ruivenkamp, Claudia A. L.

Results: 31
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    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

    Published in:
    Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0804-0
    By:
    • Ciolfi, Andrea;
    • Aref-Eshghi, Erfan;
    • Pizzi, Simone;
    • Pedace, Lucia;
    • Miele, Evelina;
    • Kerkhof, Jennifer;
    • Flex, Elisabetta;
    • Martinelli, Simone;
    • Radio, Francesca Clementina;
    • Ruivenkamp, Claudia A. L.;
    • Santen, Gijs W. E.;
    • Bijlsma, Emilia;
    • Barge-Schaapveld, Daniela;
    • Ounap, Katrin;
    • Siu, Victoria Mok;
    • Kooy, R. Frank;
    • Dallapiccola, Bruno;
    • Sadikovic, Bekim;
    • Tartaglia, Marco
    Publication type:
    Article
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    Identification of copy number variants associated with BPES-like phenotypes.

    Published in:
    Human Genetics, 2008, v. 124, n. 5, p. 489, doi. 10.1007/s00439-008-0574-9
    By:
    • Gijsbers, Antoinet C. J.;
    • D'haene, Barbara;
    • Hilhorst-Hofstee, Yvonne;
    • Mannens, Marcel;
    • Albrecht, Beate;
    • Seidel, Joerg;
    • Witt, David R.;
    • Maisenbacher, Melissa K.;
    • Loeys, Bart;
    • van Essen, Ton;
    • Bakker, Egbert;
    • Hennekam, Raoul;
    • Breuning, Martijn H.;
    • De Baere, Elfride;
    • Ruivenkamp, Claudia A. L.
    Publication type:
    Article
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    Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 3, p. 386, doi. 10.1093/hmg/ddac200
    By:
    • McGee, Stacey R;
    • Rajamanickam, Shivakumar;
    • Adhikari, Sandeep;
    • Falayi, Oluwatosin C;
    • Wilson, Theresa A;
    • Shayota, Brian J;
    • Coleman, Jessica A Cooley;
    • Skinner, Cindy;
    • Caylor, Raymond C;
    • Stevenson, Roger E;
    • Quaio, Caio Robledo D' Angioli Costa;
    • Wilke, Berenice Cunha;
    • Bain, Jennifer M;
    • Anyane-Yeboa, Kwame;
    • Brown, Kaitlyn;
    • Greally, John M;
    • Bijlsma, Emilia K;
    • Ruivenkamp, Claudia A L;
    • Politi, Keren;
    • Arbogast, Lydia A
    Publication type:
    Article
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    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

    Published in:
    Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
    By:
    • Snijders Blok, Lot;
    • Hiatt, Susan M.;
    • Bowling, Kevin M.;
    • Prokop, Jeremy W.;
    • Engel, Krysta L.;
    • Cochran, J. Nicholas;
    • Bebin, E. Martina;
    • Bijlsma, Emilia K.;
    • Ruivenkamp, Claudia A. L.;
    • Terhal, Paulien;
    • Simon, Marleen E. H.;
    • Smith, Rosemarie;
    • Hurst, Jane A.;
    • The DDD study;
    • McLaughlin, Heather;
    • Person, Richard;
    • Crunk, Amy;
    • Wangler, Michael F.;
    • Streff, Haley;
    • Symonds, Joseph D.
    Publication type:
    Article
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    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

    Published in:
    Human Mutation, 2019, v. 40, n. 12, p. 2230, doi. 10.1002/humu.23896
    By:
    • Fokkema, Ivo F. A. C.;
    • Velde, Kasper J.;
    • Slofstra, Mariska K.;
    • Ruivenkamp, Claudia A. L.;
    • Vogel, Maartje J.;
    • Pfundt, Rolph;
    • Blok, Marinus J.;
    • Lekanne Deprez, Ronald H.;
    • Waisfisz, Quinten;
    • Abbott, Kristin M.;
    • Sinke, Richard J.;
    • Rahman, Rubayte;
    • Nijman, Isaäc J.;
    • Koning, Bart;
    • Thijs, Gert;
    • Wieskamp, Nienke;
    • Moritz, Ruben J. G.;
    • Charbon, Bart;
    • Saris, Jasper J.;
    • den Dunnen, Johan T.
    Publication type:
    Article
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    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1313, doi. 10.1002/humu.22368
    By:
    • Weiss, Marjan M.;
    • Zwaag, Bert;
    • Jongbloed, Jan D. H.;
    • Vogel, Maartje J.;
    • Brüggenwirth, Hennie T.;
    • Lekanne Deprez, Ronald H.;
    • Mook, Olaf;
    • Ruivenkamp, Claudia A. L.;
    • Slegtenhorst, Marjon A.;
    • Wijngaard, Arthur;
    • Waisfisz, Quinten;
    • Nelen, Marcel R.;
    • Stoep, Nienke
    Publication type:
    Article
    13

    Novel genetic causes of short stature.

    Published in:
    European Journal of Endocrinology, 2016, v. 174, n. 4, p. R145, doi. 10.1530/EJE-15-0937
    By:
    • Wit, Jan M.;
    • Oostdijk, Wilma;
    • Losekoot, Monique;
    • van Duyvenvoorde, Hermine A.;
    • Ruivenkamp, Claudia A. L.;
    • Kant, Sarina G.
    Publication type:
    Article
    14

    Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus.

    Published in:
    British Journal of Haematology, 2019, v. 186, n. 6, p. e165, doi. 10.1111/bjh.16043
    By:
    • Traeger‐Synodinos, Joanne;
    • Bosch, Cathy A. J.;
    • Vrettou, Christina;
    • Maragoudaki, Lena;
    • Apostolidis, Janos;
    • Kanavakis, Emmanuel;
    • Kattamis, Christos;
    • Arkesteijn, Sandra G. J.;
    • Hoffer, Mariëtte J. V.;
    • Ruivenkamp, Claudia A. L.;
    • Harteveld, Cornelis L.
    Publication type:
    Article
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    Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
    By:
    • Wentzel, Christian;
    • Rajcan-Separovic, Evica;
    • Ruivenkamp, Claudia A. L.;
    • Chantot-Bastaraud, Sandra;
    • Metay, Corinne;
    • Andrieux, Joris;
    • Annerén, Göran;
    • Gijsbers, Antoinet C. J.;
    • Druart, Luc;
    • Hyon, Capucine;
    • Portnoi, Marie-France;
    • Stattin, Eva-Lena;
    • Vincent-Delorme, Catherine;
    • Kant, Sarina G.;
    • Steinraths, Michelle;
    • Marlin, Sandrine;
    • Giurgea, Irina;
    • Thuresson, Ann-Charlotte
    Publication type:
    Article
    17

    The clinical spectrum of complete FBN1 allele deletions.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
    By:
    • Hilhorst-Hofstee, Yvonne;
    • Hamel, Ben C. J.;
    • Verheij, Joke B. G. M.;
    • Rijlaarsdam, Marry E. B.;
    • Mancini, Grazia M. S.;
    • Cobben, Jan M.;
    • Giroth, Cindy;
    • Ruivenkamp, Claudia A. L.;
    • Hansson, Kerstin B. M.;
    • Timmermans, Janneke;
    • Moll, Henriette A.;
    • Breuning, Martijn H.;
    • Pals, Gerard
    Publication type:
    Article
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    Digital PCR Validates 8q Dosage as Prognostic Tool in Uveal Melanoma.

    Published in:
    PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0116371
    By:
    • Versluis, Mieke;
    • de Lange, Mark J.;
    • van Pelt, Sake I.;
    • Ruivenkamp, Claudia A. L.;
    • Kroes, Wilma G. M.;
    • Cao, Jinfeng;
    • Jager, Martine J.;
    • Luyten, Gre P. M.;
    • van der Velden, Pieter A.
    Publication type:
    Article
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    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
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    Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1884, doi. 10.1002/ajmg.a.37076
    By:
    • Tan, Ratna N. G. B.;
    • Witlox, Ruben S. G. M.;
    • Hilhorst‐Hofstee, Yvonne;
    • Peeters‐Scholte, Cacha M. P. C. D.;
    • den Hollander, Nicolette S.;
    • Ruivenkamp, Claudia A. L.;
    • Hoffer, Mariëtte J.V.;
    • Hansson, Kerstin B.;
    • van Roosmalen, Mark J.;
    • Kloosterman, Wigard P.;
    • Santen, Gijs W. E.
    Publication type:
    Article
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    Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

    Published in:
    2022
    By:
    • Knoop, Marieke M van der;
    • Maroofian, Reza;
    • Fukata, Yuko;
    • Ierland, Yvette van;
    • Karimiani, Ehsan G;
    • Lehesjoki, Anna Elina;
    • Muona, Mikko;
    • Paetau, Anders;
    • Miyazaki, Yuri;
    • Hirano, Yoko;
    • Selim, Laila;
    • França, Marina de;
    • Fock, Rodrigo Ambrosio;
    • Beetz, Christian;
    • Ruivenkamp, Claudia A L;
    • Eaton, Alison J;
    • Morneau-Jacob, Francois D;
    • Sagi-Dain, Lena;
    • Shemer-Meiri, Lilach;
    • Peleg, Amir
    Publication type:
    journal article
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    Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 4, p. 379, doi. 10.1038/ng.2217
    By:
    • Santen, Gijs W E;
    • Aten, Emmelien;
    • Sun, Yu;
    • Almomani, Rowida;
    • Gilissen, Christian;
    • Nielsen, Maartje;
    • Kant, Sarina G;
    • Snoeck, Irina N;
    • Peeters, Els A J;
    • Hilhorst-Hofstee, Yvonne;
    • Wessels, Marja W;
    • den Hollander, Nicolette S;
    • Ruivenkamp, Claudia A L;
    • van Ommen, Gert-Jan B;
    • Breuning, Martijn H;
    • den Dunnen, Johan T;
    • van Haeringen, Arie;
    • Kriek, Marjolein
    Publication type:
    Article
    28

    Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 20, doi. 10.1038/ng.724
    By:
    • Dauwerse, Johannes G.;
    • Dixon, Jill;
    • Seland, Saskia;
    • Ruivenkamp, Claudia A. L.;
    • van Haeringen, Arie;
    • Hoefsloot, Lies H.;
    • Peters, Dorien J. M.;
    • Boers, Agnes Clement-de;
    • Daumer-Haas, Cornelia;
    • Maiwald, Robert;
    • Zweier, Christiane;
    • Kerr, Bronwyn;
    • Cobo, Ana M.;
    • Toral, Joaquín F.;
    • Hoogeboom, A. Jeannette M.;
    • Lohmann, Dietmar R.;
    • Hehr, Ute;
    • Dixon, Michael J.;
    • Breuning, Martijn H.;
    • Wieczorek, Dagmar
    Publication type:
    Article
    29

    An activating mutation in the kinase homology domain of the natriuretic Peptide receptor-2 causes extremely tall stature without skeletal deformities.

    Published in:
    2013
    By:
    • Hannema, Sabine E;
    • van Duyvenvoorde, Hermine A;
    • Premsler, Thomas;
    • Yang, Ruey-Bing;
    • Mueller, Thomas D;
    • Gassner, Birgit;
    • Oberwinkler, Heike;
    • Roelfsema, Ferdinand;
    • Santen, Gijs W E;
    • Prickett, Timothy;
    • Kant, Sarina G;
    • Verkerk, Annemieke J M H;
    • Uitterlinden, André G;
    • Espiner, Eric;
    • Ruivenkamp, Claudia A L;
    • Oostdijk, Wilma;
    • Pereira, Alberto M;
    • Losekoot, Monique;
    • Kuhn, Michaela;
    • Wit, Jan M
    Publication type:
    Journal Article
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