Výsledky vyhledávání - Michael Kwint

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  1. 1
    Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

    Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation Autor Rocío Acuña‐Hidalgo, Tan Bo, Michael Kwint, Maartje van de Vorst, Michele Pinelli, Joris A. Veltman, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

    Vydáno 2015
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  2. 2
    Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.)

    Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.) Autor Maartje A. H. J. van Kessel, Bas E. Dutilh, Kornelia Neveling, Michael Kwint, Joris A. Veltman, Gert Flik, Mike S. M. Jetten, Peter H.M. Klaren, Huub J. M. Op den Camp

    Vydáno 2011
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  3. 3
    Long-read trio sequencing of individuals with unsolved intellectual disability

    Long-read trio sequencing of individuals with unsolved intellectual disability Autor Marc Pauper, Erdi Küçük, Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

    Vydáno 2020
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  4. 4
    Comprehensive de novo mutation discovery with HiFi long-read sequencing

    Comprehensive de novo mutation discovery with HiFi long-read sequencing Autor Erdi Küçük, Bart van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E.L.M. Vissers, Alexander Hoischen, Christian Gilissen

    Vydáno 2023
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  5. 5
    Optical genome mapping identifies a germline retrotransposon insertion in <scp><i>SMARCB1</i></scp> in two siblings with atypical teratoid rhabdoid tumors

    Optical genome mapping identifies a germline retrotransposon insertion in <scp><i>SMARCB1</i></scp> in two siblings with atypical teratoid rhabdoid tumors Autor Mariangela Sabatella, Tuomo Mantere, Esmé Waanders, Kornelia Neveling, Arjen R. Mensenkamp, Freerk van Dijk, Jayne Y. Hehir‐Kwa, Ronnie Derks, Michael Kwint, Luke O’Gorman, Madalena Tropa Martins, Corrie Gidding, Maarten H. Lequin, Benno Küsters, Pieter Wesseling, Marcel Nelen, Jacklyn Biegel, Alexander Hoischen, Marjolijn C.J. Jongmans, Roland P. Kuiper

    Vydáno 2021
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  6. 6
    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders Autor Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, Michael Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel Nelen, Dorien Lugtenberg, Erik‐Jan Kamsteeg, Nienke Wieskamp, Alexander P.A. Stegmann, Servi J.C. Stevens, Richard J. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    Vydáno 2016
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  7. 7
    Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

    Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement Autor Alejandro Estrada‐Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik‐Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael Kwint, Sabine Gijsen, Ramon A. C. van Huet, Rob W.J. Collin, Hans Scheffer, Joris A. Veltman, Eberhart Zrenner, Anneke I. den Hollander, B. Jeroen Klevering, Frans P.M. Cremers

    Vydáno 2011
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  8. 8
    Next‐generation genetic testing for retinitis pigmentosa

    Next‐generation genetic testing for retinitis pigmentosa Autor Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A. C. van Huet, Linda Visser, Michael Kwint, Sabine Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari Branham, Anneke I. den Hollander, Alexander Hoischen, Carel B. Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers, Hans Scheffer

    Vydáno 2012
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  9. 9
    Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

    Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia Autor Sascha Vermeer, Alexander Hoischen, Rowdy Meijer, Christian Gilissen, Kornelia Neveling, Nienke Wieskamp, Arjan de Brouwer, Michel Kœnig, Mathieu Anheim, Mirna Assoum, Nathalie Drouot, S. Todorović, Vedrana Milić-Rašić, Hanns Lochmüller, Giovanni Stévanin, Cyril Goizet, Albert David, Alexandra Dürr, Alexis Brice, Berry Kremer, Bart P.C. van de Warrenburg, Mascha M.V.A.P. Schijvenaars, Angelien Heister, Michael Kwint, Peer Arts, Jenny van der Wijst, Joris A. Veltman, Erik‐Jan Kamsteeg, Hans Scheffer, Nine V.A.M. Knoers

    Vydáno 2010
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  10. 10
    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders Autor Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P.A. Stegmann, Servi J.C. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Lisenka E.L.M. Vissers

    Vydáno 2022
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  11. 11
    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay Autor Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, D.L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Paul Kruszka, Austin Larson, Alexandra Afenjar, Thierry Billette de Villemeur, Kimberly Nugent, F. Lucy Raymond, Hanka Venselaar, Florence Démurger, Claudia Soler‐Alfonso, Dong Li, Elizabeth Bhoj, Ian Hayes, Nina Powell Hamilton, Ayesha Ahmad, Rachel S. Fisher, Myrthe van den Born, Marjolaine Willems, Arthur Sorlin, Julian Delanne, Sébastien Moutton, Christophe Philippe, Frédéric Tran Mau‐Them, Antonio Vitobello, Himanshu Goel, Lauren Massingham, Chanika Phornphutkul, Jennifer Schwab, Boris Keren, Perrine Charles, Maaike Vreeburg, Lenika De Simone, George Hoganson, Maria Iascone, Donatella Milani, Lucie Evenepoel, Nicole Revençu, Daniel Ward, Kaitlyn Burns, Ian D. Krantz, Sarah E. Raible, Jill R. Murrell, Kathleen H. Wood, Megan T. Cho, Hans van Bokhoven, Maximilian Muenke, Tjitske Kleefstra, Rolf Bodmer, Arjan P.M. de Brouwer

    Vydáno 2020
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  12. 12
    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Autor Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg

    Vydáno 2021
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