Rezultaty - Han G Brunner

Ciliary Dyneins and Dynein Related Ciliopathies od Dinu Antony, Han G. Brunner, Miriam Schmidts

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Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. od Tom Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner, Ernie M H F Bongers, Mark O'Driscoll, Penny A Jeggo

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Accurate distinction of pathogenic from benign CNVs in mental retardation. od Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman

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Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects od Dinu Antony, Elif Yilmaz Güleç, Anna Klawonn, Zeineb Bakey, Isabel Schüle, Gwang-Jin Kim, Toni Cathomen, Ilona Skatulla, Han G. Brunner, Sebastian J. Arnold, Miriam Schmidts

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Comprehensive de novo mutation discovery with HiFi long-read sequencing od Erdi Kucuk, Bart P. G. H. 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

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Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityResearch in context od Johanna C. Andersson-Assarsson, Rosanne C. van Deuren, Felipe M. Kristensson, Marloes Steehouwer, Kajsa Sjöholm, Per-Arne Svensson, Marc Pieterse, Christian Gilissen, Magdalena Taube, Peter Jacobson, Rosie Perkins, Han G. Brunner, Mihai G. Netea, Markku Peltonen, Björn Carlsson, Alexander Hoischen, Lena M.S. Carlsson

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Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers od Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease od Abderrahim Marouane, Abderrahim Marouane, Kornelia Neveling, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers, Lisenka E. L. M. Vissers

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Clustering of Cardiac Transcriptome Profiles Reveals Unique od Job A.J. Verdonschot, MD, PhD, Ping Wang, PhD, Kasper W.J. Derks, PhD, Michiel E. Adriaens, PhD, Sophie L.V.M. Stroeks, MD, Michiel T.H.M. Henkens, MD, Anne G. Raafs, MD, Maurits Sikking, MD, Bart de Koning, PhD, Arthur van den Wijngaard, PhD, Ingrid P.C. Krapels, MD, PhD, Miranda Nabben, PhD, Han G. Brunner, MD, PhD, Stephane R.B. Heymans, MD, PhD

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Genome sequencing as a generic diagnostic strategy for rare disease od Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers

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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. od Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick

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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing od Anouk E. J. Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M. E. I. Hellebrekers, Servi J. C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, Chris M. J. van Uum, Jelle Achten, Lars Hamers, Marjan Naghdi, Lisenka E. L. M. Vissers, Ron J. T. van Golde, Guido de Wert, Jos C. F. M. Dreesen, Christine de Die-Smulders, Edith Coonen, Han G. Brunner, Arthur van den Wijngaard, Aimee D. C. Paulussen, Masoud Zamani Esteki

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Improving diagnosis and risk stratification across the ejection fraction spectrum: the Maastricht Cardiomyopathy registry od Michiel T.H.M. Henkens, Jerremy Weerts, Job A.J. Verdonschot, Anne G. Raafs, Sophia Stroeks, Maurits A. Sikking, Hesam Amin, Sanne G.J. Mourmans, Chrit B.G. Geraeds, Sandra Sanders‐van Wijk, Arantxa Barandiarán Aizpurua, Nicole H.M.K. Uszko‐Lencer, Ingrid P.C. Krapels, Petra F.G. Wolffs, Han G. Brunner, Rick E.W. vanLeeuwen, Wouter Verhesen, Simon M. Schalla, Antonius W.M. vanStipdonk, Christian Knackstedt, Xiaofei Li, Myrurgia A. Abdul Hamid, Pieter vanPaassen, Mark R. Hazebroek, Kevin Vernooy, Hans‐Peter Brunner‐La Rocca, Vanessa P.M. vanEmpel, Stephane R.B. Heymans

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A novel spliceosomopathy caused by de novo SF3B3 variants od Luciana Musante, Pavel Janos, Giulia Pianigiani, Sara Cappelli, Alessandra Longo, Carolina Alves, Eva MC Schwaibold, Matias Wagner, Gregory Costain, Run Fridriksdottir, Kari Stefansson, Patrick Sulem, Klaske D Lichtenbelt, Ellen van Binsbergen, Richard H van Jaarsveld, Alfredo Brusco, Lisa Pavinato, Elisa Biamino, Alessandra Spano, Clara C Hildebrandt, Yee-Ming Chan, Emily Groopman, Michal Berkenstadt, Daniel Koboldt, Rachel Williamson, Han G Brunner, Lisenka ELM Vissers, Pernille M Torring, Qin Hao, Bruce D Gelb, Elizabeth Goldmuntz, Kristen Reed, Emma C Bedoukian, Davide Vecchio, Emanuela Salzano, Maria Piccione, Caterina Zanus, Catia Mio, Evan E Eichler, Tianyun Wang, Wesley G Patterson, Kameryn M Butler, Mattie Piotrowski, Sandra Mercier, Benjamin Cogné, Ingrid M. Wentzensen, Emanuele Buratti, Alessandra Magistrato, Flavio Faletra

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