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  1. 1
    SWI/SNF complex in disorder

    SWI/SNF complex in disorder por Gijs W.E. Santen, Marjolein Kriek, Haico van Attikum

    Publicado em 2012
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  2. 2
    Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

    Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? por Yu Sun, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Terry Vrijenhoek, Marjolein Kriek, Christi J. van Asperen, Johan T. den Dunnen, Gijs W.E. Santen

    Publicado em 2015
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  3. 3
    Paternally Inherited<i>IGF2</i>Mutation and Growth Restriction

    Paternally Inherited<i>IGF2</i>Mutation and Growth Restriction por Matthias Begemann, Birgit Zirn, Gijs W.E. Santen, Elisa Wirthgen, Lukas Soellner, Hans-Martin Büttel, Roland Schweizer, Wilbert van Workum, Gerhard Binder, Thomas Eggermann

    Publicado em 2015
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  4. 4
    Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

    Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders por Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Samantha A. Schrier Vergano, Gijs W.E. Santen, Cigall Kadoch

    Publicado em 2023
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  5. 5
    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care por Maayke A. de Koning, Monique C. Haak, P. N. Adama van Scheltema, Cacha Peeters‐Scholte, Tamara T. Koopmann, Esther Nibbeling, Emmelien Aten, Nicolette S. den Hollander, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Gijs W.E. Santen

    Publicado em 2019
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  6. 6
    The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

    The prevalence of genetic diagnoses in fetuses with severe congenital heart defects por A. van Nisselrooij, Malou A. Lugthart, Sally‐Ann B. Clur, Ingeborg H. Linskens, Eva Pajkrt, Lukas Rammeloo, Lieke Rozendaal, Nico A. Blom, J. M. M. van Lith, Alida C. Knegt, Mariëtte J.V. Hoffer, Emmelien Aten, Gijs W.E. Santen, Monique C. Haak

    Publicado em 2020
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  7. 7
    PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

    PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations por Wilma Oostdijk, Jan Idkowiak, Jonathan Wolf Mueller, Philip J House, Angela E. Taylor, Michael O’Reilly, Beverly Hughes, Martine C. de Vries, Sarina G. Kant, Gijs W.E. Santen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Jan M. Wit, Monique Losekoot, Wiebke Arlt

    Publicado em 2015
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  8. 8
    A novel variant of FGFR3 causes proportionate short stature

    A novel variant of FGFR3 causes proportionate short stature por Sarina G. Kant, Iveta Cervenkova, Lukáš Bálek, Lukáš Trantı́rek, Gijs W.E. Santen, Martine C. de Vries, Hermine A. van Duyvenvoorde, Michiel J.R. van der Wielen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Sabine E Hannema, Jan M. Wit, Wilma Oostdijk, Pavel Krejčı́, Monique Losekoot

    Publicado em 2015
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  9. 9
    Skewed X-inactivation is common in the general female population

    Skewed X-inactivation is common in the general female population por Ekaterina Shvetsova, Alina A. Sofronova, Ramin Monajemi, Kristina Gagalova, Harmen H. M. Draisma, Stefan J. White, Gijs W.E. Santen, Susana M. Chuva de Sousa Lopes, Bastiaan T. Heijmans, Joyce B. J. van Meurs, Rick Jansen, Lude Franke, Szymon M. Kiełbasa, Johan T. den Dunnen, Peter A.C. ‘t Hoen

    Publicado em 2018
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  10. 10
    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... por Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit

    Publicado em 2013
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  11. 11
    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature por Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia

    Publicado em 2020
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  12. 12
    An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities

    An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities por Sabine E Hannema, Hermine A. van Duyvenvoorde, Thomas Premsler, Ruey‐Bing Yang, Thomas D. Mueller, Birgit Gaßner, Heike Oberwinkler, Ferdinand Roelfsema, Gijs W.E. Santen, Timothy C. R. Prickett, Sarina G. Kant, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Eric A. Espiner, Claudia Ruivenkamp, Wilma Oostdijk, Alberto M. Pereira, Monique Losekoot, Michaela Kühn, Jan M. Wit

    Publicado em 2013
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  13. 13
    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment por Cemre Celen, Jen‐Chieh Chuang, Xin Luo, Nadine Nijem, Angela K. Walker, Fei Chen, Shuyuan Zhang, Andrew Chung, Liem H. Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A. Bok, Meriel McEntagart, Evelien Gevers, Shari G. Birnbaum, Amelia J. Eisch, Craig M. Powell, Woo‐Ping Ge, Gijs W.E. Santen, Maria H. Chahrour, Hao Zhu

    Publicado em 2017
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  14. 14
    Mutations in <i>TBL1X</i> Are Associated With Central Hypothyroidism

    Mutations in <i>TBL1X</i> Are Associated With Central Hypothyroidism por Charlotte A. Heinen, Monique Losekoot, Yu Sun, Peter J. Watson, Louise Fairall, Sjoerd D. Joustra, Nitash Zwaveling‐Soonawala, Wilma Oostdijk, Erica L T van den Akker, Mariëlle Alders, Gijs W.E. Santen, Rick R. van Rijn, Wouter A. Dreschler, Olga V. Surovtseva, Nienke R. Biermasz, Raoul C. M. Hennekam, Jan M. Wit, John W. R. Schwabe, Anita Boelen, Eric Fliers, A.S. Paul van Trotsenburg

    Publicado em 2016
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  15. 15
    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer por Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J.W. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W.E. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Młynarski, Denisa Ilenčíková, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C.J. Jongmans

    Publicado em 2018
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  16. 16
    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 por Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin‐Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke Aartsma‐Rus, Rune R. Frants, Marjolein Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Egbert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel

    Publicado em 2012
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  17. 17
    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling por Clare V. Logan, György Szabadkai, Jenny A. Sharpe, David Parry, Silvia Torelli, Anne‐Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A. Johnson, Nicola Roberts, David T. Bonthron, Karen Pysden, Tamieka Whyte, Iulia Munteanu, A. Reghan Foley, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Zakia A. Abdelhamed, Joanne Morgan, H. Roper, Gijs W.E. Santen, Erik H. Niks, W. Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T. den Dunnen, Yu Sun, Ieke B. Ginjaar, Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan

    Publicado em 2013
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  18. 18
    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 por 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

    Publicado em 2016
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  19. 19
    Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

    Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis por Aimée L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sánchez‐Pulido, Stephen R.F. Twigg, Anne Goriely, Simon J. McGowan, Kerry A. Miller, Indira B. Taylor, Clare V. Logan, Sevcan Tuğ Bozdoğan, Sumita Danda, Joanne Dixon, Solaf M. Elsayed, Ezzat Elsobky, Alice Gardham, Mariëtte J.V. Hoffer, Marion Koopmans, Donna M. McDonald‐McGinn, Gijs W.E. Santen, Ravi Savarirayan, Deepthi De Silva, Olivier Vanakker, Steven A. Wall, Louise C. Wilson, Özge Özalp Yüreğir, Elaine H. Zackai, Chris P. Ponting, Andrew P. Jackson, Andrew O.M. Wilkie, Wojciech Niedźwiedź, Louise S. Bicknell

    Publicado em 2016
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  20. 20
    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation por Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T. R. M. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert Fonya Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, María J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael Parker, Natalie Canham, Margaret L. McKinnon, Lorraine Potocki, Jennifer MacKenzie, Elizabeth Roeder, Philippe M. Campeau, Xiang-Jiao Yang

    Publicado em 2016
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