Rezultaty - Janneke Schuurs-Hoeijmakers

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  1. 1
    A review on age‐related cancer risks in <scp>PTEN</scp> hamartoma tumor syndrome

    A review on age‐related cancer risks in <scp>PTEN</scp> hamartoma tumor syndrome od Linda A.J. Hendricks, Nicoline Hoogerbrugge, Janneke Schuurs-Hoeijmakers, Janet R. Vos

    Wydane 2020
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  2. 2
    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first od Antoinet C.J. Gijsbers, Janet YK Lew, Cathy A.J. Bosch, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S. den Hollander, Sarina G. Kant, Emilia K. Bijlsma, Martijn H. Breuning, Egbert Bakker, Claudia Ruivenkamp

    Wydane 2009
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  3. 3
    Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes

    Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes od Snežana Hinić, Arjen R. Mensenkamp, Janneke Schuurs-Hoeijmakers, Fulvia Brugnoletti, Lilian Vreede, Elke M. van Veen, Barend Mijzen, Rachel S. van der Post, Maurizio Genuardi, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge, Richarda M. de Voer

    Wydane 2025
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  4. 4
    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome od Heleen H. Arts, Ernie M.H.F. Bongers, Dorus A. Mans, Sylvia E. C. van Beersum, M. M. Oud, Emine Bolat, Liesbeth Spruijt, Marlies Cornelissen, Janneke Schuurs-Hoeijmakers, Nicole de Leeuw, Valérie Cormier‐Daire, Han G. Brunner, Nine V.A.M. Knoers, Ronald Roepman

    Wydane 2011
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  5. 5
    Clinical Significance of De Novo and Inherited Copy-Number Variation

    Clinical Significance of De Novo and Inherited Copy-Number Variation od Anneke T. Vulto-van Silfhout, Jayne Y. Hehir‐Kwa, Bregje W.M. van Bon, Janneke Schuurs-Hoeijmakers, Stephen Meader, Claudia J.M. Hellebrekers, Ilse J.M. Thoonen, Arjan P.M. de Brouwer, Han G. Brunner, Caleb Webber, Rolph Pfundt, Nicole de Leeuw, Bert de Vries

    Wydane 2013
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  6. 6
    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome od Janneke Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers, Mariëlle E.M. Swinkels, Christian Gilissen, Michèl A.A.P. Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A. Veltman, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer, Nicholas Katsanis, Koenraad Devriendt, Han G. Brunner

    Wydane 2012
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  7. 7
    TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

    TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function od Fernando Gómez-Herreros, Janneke Schuurs-Hoeijmakers, Mark McCormack, Marie T. Greally, Stuart L. Rulten, Rocío Romero‐Granados, Timothy J. Counihan, Elijah Chaila, Judith Conroy, Sean Ennis, Norman Delanty, Felipe Cortés‐Ledesma, Arjan P.M. de Brouwer, Gianpiero L. Cavalleri, Sherif F. El‐Khamisy, Bert B.A. de Vries, Keith W. Caldecott

    Wydane 2014
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  8. 8
    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19

    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 od Xavier Solanich, Gardenia Vargas‐Parra, Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Arnau Antolí, Jesús Del Valle, Gemma Rocamora-Blanch, Fernando Setién, Manel Esteller, Simon V. van Reijmersdal, Antoni Riera‐Mestre, Joan Sabater‐Riera, Gabriel Capellà, Frank L. van de Veerdonk, Ben van der Hoven, Xavier Corbella, Alexander Hoischen, Conxi Lázaro

    Wydane 2021
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  9. 9
    Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

    Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation od Dirk J. Lefeber, Arjan P.M. de Brouwer, Éva Morava, Moniek Riemersma, Janneke Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M.R. van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jóźwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A. Wevers

    Wydane 2011
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  10. 10
    <i>TRIO</i>loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

    <i>TRIO</i>loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function od Wei Ba, Yan Yan, Margot R.F. Reijnders, Janneke Schuurs-Hoeijmakers, Ilse Feenstra, Ernie M.H.F. Bongers, Daniëlle G.M. Bosch, Nicole de Leeuw, Rolph Pfundt, Christian Gilissen, Petra F. de Vries, Joris A. Veltman, Alexander Hoischen, Heather C. Mefford, Evan E. Eichler, Lisenka E.L.M. Vissers, Nael Nadif Kasri, Bert B.A. de Vries

    Wydane 2015
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  11. 11
    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP od Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke Schuurs-Hoeijmakers, Carlo Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa

    Wydane 2014
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  12. 12
    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals od Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Dietje E. Fransen van de Putte, Britt‐Marie Anderlid, Johanna Lundin, Pablo Lapunzina, L.A. Pérez Jurado, Barbara Delle Chiaie, Bart Loeys, Björn Menten, Anna Oostra, Hélène Verhelst, David J. Amor, Damien L. Bruno, A.J. van Essen, Roel Hordijk, Birgit Sikkema‐Raddatz, K. T. Verbruggen, M.C.J. Jongmans, Rolph Pfundt, H.M. Reeser, M.H. Breuning, Claudia Ruivenkamp

    Wydane 2009
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  13. 13
    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development od Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A.F. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, A Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve E. Bakken, Brian J. O’Roak, Matthew Pawlus, Randall T. Moon, Jay Shendure, David G. Amaral, Ed S. Lein, Julia Rankin, Corrado Romano, Bert de Vries, Nicholas Katsanis, Evan E. Eichler

    Wydane 2014
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  14. 14
    De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

    De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila od Dorien Lugtenberg, Margot R.F. Reijnders, Michaela Fencková, Emilia K. Bijlsma, Raphael Bernier, Bregje W.M. van Bon, Eric Smeets, Anneke T. Vulto‐van Silfhout, Daniëlle G.M. Bosch, Evan E. Eichler, Heather C. Mefford, Gemma L. Carvill, Ernie M.H.F. Bongers, Janneke Schuurs-Hoeijmakers, Claudia Ruivenkamp, Gijs W.E. Santen, Anouk den Braber, Cacha Peeters‐Scholte, Sabine Kuenen, Patrik Verstreken, Rolph Pfundt, Helger G. Yntema, Petra F. de Vries, Joris A. Veltman, Alexander Hoischen, Christian Gilissen, Bert B.A. de Vries, Annette Schenck, Tjitske Kleefstra, Lisenka E.L.M. Vissers

    Wydane 2016
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  15. 15
    Presence of Genetic Variants Among Young Men With Severe COVID-19

    Presence of Genetic Variants Among Young Men With Severe COVID-19 od Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Guus van den Heuvel, Tuomo Mantere, Simone Kersten, Rosanne C. van Deuren, Marloes Steehouwer, Simon V. van Reijmersdal, Martin Jaeger, Tom Hofste, Galuh Astuti, Jordi Corominas Galbany, Vyne van der Schoot, Hans van der Hoeven, Wanda Hagmolen of ten Have, Eva Klijn, Catrien van den Meer, Jeroen Fiddelaers, Quirijn de Mast, Chantal P. Bleeker‐Rovers, Leo A. B. Joosten, Helger G. Yntema, Christian Gilissen, Marcel Nelen, J.W.M. van der Meer, Han G. Brunner, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen

    Wydane 2020
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  16. 16
    Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

    Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome od Caspar I. van der Made, Simone Kersten, Odelia Chorin, Karin R. Engelhardt, Gayatri Ramakrishnan, Helen Griffin, Ina Schim van der Loeff, Hanka Venselaar, Annick Raas Rothschild, Meirav Segev, Janneke Schuurs-Hoeijmakers, Tuomo Mantere, Rick Essers, Masoud Zamani Esteki, A. Avital, Peh Sun Loo, Annet Simons, Rolph Pfundt, Adilia Warris, Marieke M.B. Seyger, Frank L. van de Veerdonk, Mihai G. Netea, Mary Slatter, Terry Flood, Andrew R. Gennery, Amos J. Simon, Atar Lev, Shirley Frizinsky, Ortal Barel, Mirjam van der Burg, Raz Somech, Sophie Hambleton, Stefanie Henriet, Alexander Hoischen

    Wydane 2024
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  17. 17
    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing od Janneke Schuurs-Hoeijmakers, Anneke T. Vulto‐van Silfhout, Lisenka E.L.M. Vissers, Ilse I.G.M. van de Vondervoort, Bregje W.M. van Bon, Joep de Ligt, Christian Gilissen, Jayne Y. Hehir‐Kwa, Kornelia Neveling, Marisol del Rosario, Gausiya Hira, S Reitano, Girolamo Aurelio Vitello, Pinella Failla, Donatella Greco, Marco Fichera, Ornella Galesi, Tjitske Kleefstra, Marie T. Greally, Charlotte W. Ockeloen, Marjolein H. Willemsen, Ernie M.H.F. Bongers, Irene M. Janssen, Rolph Pfundt, Joris A. Veltman, Corrado Romano, Michèl A.A.P. Willemsen, Hans van Bokhoven, Han G. Brunner, Bert B.A. de Vries, Arjan P.M. de Brouwer

    Wydane 2013
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  18. 18
    PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

    PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework od Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Joery den Hoed, Elke de Boer, Jet van der Spek, Sandra Jansen, Bregje W.M. van Bon, Noraly Jonis, Charlotte W. Ockeloen, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, David A. Koolen, Philippe M. Campeau, Elizabeth E. Palmer, Hilde Van Esch, Gholson J. Lyon, Fowzan S. Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J. van der Sluijs, Gijs W.E. Santen, R. Frank Kooy, Marcel van Gerven, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Wydane 2023
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  19. 19
    Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Refining analyses of copy number variation identifies specific genes associated with developmental delay od Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto‐van Silfhout, Paolo Bosco, Kathryn Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke Schuurs-Hoeijmakers, Alexander Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David G. Amaral, Natasha J. Brown, Paul J. Lockhart, Ingrid E. Scheffer, A Alberti, Marie Shaw, Rosa Pettinato, Raymond C. Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O’Roak, Marco Fichera, Jayne Y. Hehir‐Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler

    Wydane 2014
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  20. 20
    Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients

    Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients od Janneke Schuurs-Hoeijmakers, Megan Landsverk, Nicola Foulds, Mary K. Kukolich, Ralitza H. Gavrilova, Stephanie Greville‐Heygate, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Jennifer Glass, David Chitayat, Thomas Andrew Burrow, Ammar Husami, Kathleen Collins, Katie Wusik, Nathalie Van der Aa, R. Frank Kooy, Kate Tatton Brown, Dorothea Gadzicki, Usha Kini, Sara Álvarez, Alberto Fernández‐Jaén, Frank T. McGehee, Katherine Selby, Maja Tarailo‐Graovac, Margot Van Allen, Clara van Karnebeek, Dimitri J. Stavropoulos, Christian R. Marshall, Daniele Merico, Anne Gregor, Christiane Zweier, Robert J. Hopkin, Yoyo W. Y. Chu, Brian Hon‐Yin Chung, Bert B.A. de Vries, Koenraad Devriendt, Matthew E. Hurles, Han G. Brunner

    Wydane 2016
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