Zobrazeno 1 - 10
of 502
pro vyhledávání: '"Han G. Brunner"'
Autor:
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
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in n
Externí odkaz:
https://doaj.org/article/27a339f2ae754c6ab22930007a45ad79
Autor:
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
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increase
Externí odkaz:
https://doaj.org/article/74d1dac2ac704a6d872248d27edfaa77
Autor:
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
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indels
Externí odkaz:
https://doaj.org/article/590b4d540eb5411bb3b8f2bd4ce985c0
Autor:
Abderrahim Marouane, 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
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the genetic test r
Externí odkaz:
https://doaj.org/article/364681d5e75041ca8dc96c630c12c069
Autor:
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
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104621- (2023)
Summary: Background: Haematopoietic clones caused by somatic mutations with ≥2% variant allele frequency (VAF) increase with age and are linked to risk of haematological malignancies and cardiovascular disease. Recent observations suggest that smal
Externí odkaz:
https://doaj.org/article/2173225b8db143278f15bdd9137c953c
Autor:
Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their
Externí odkaz:
https://doaj.org/article/444b339bc7834262a4908fed8af18424
Autor:
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
Publikováno v:
ESC Heart Failure, Vol 9, Iss 2, Pp 1463-1470 (2022)
Abstract Aims Heart failure (HF) represents a clinical syndrome resulting from different aetiologies and degrees of heart diseases. Among these, a key role is played by primary heart muscle disease (cardiomyopathies), which are the combination of mul
Externí odkaz:
https://doaj.org/article/f3b5a7ecfe524234aae563aa44403743
Autor:
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Summary: WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of h
Externí odkaz:
https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8
Autor:
Evelien G. E. Hurkmans, Jan B. Koenderink, Jeroen J. M. W. van den Heuvel, Yvonne M. H. Versleijen-Jonkers, Melissa H. S. Hillebrandt-Roeffen, Johanne M. Groothuismink, Hanneke I. Vos, Winette T. A. van der Graaf, Uta Flucke, Grigor Muradjan, Hendrik W. B. Schreuder, Melanie M. Hagleitner, Han G. Brunner, Hans Gelderblom, Anne-Marie Cleton-Jansen, Henk-Jan Guchelaar, Eveline S. J. M. de Bont, Daan J. Touw, G. Jan Nijhoff, Leontien C. M. Kremer, Huib Caron, Rachael Windsor, Ana Patiño-García, Anna González-Neira, Federica Saletta, Geoff McCowage, Sumanth Nagabushan, Daniel Catchpoole, D. Maroeska W. M. te Loo, Marieke J. H. Coenen
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Background: Despite (neo) adjuvant chemotherapy with cisplatin, doxorubicin and methotrexate, some patients with primary osteosarcoma progress during first-line systemic treatment and have a poor prognosis. In this study, we investigated whether pati
Externí odkaz:
https://doaj.org/article/41ddb83527fc4a9bae06e65f39652d1c
Autor:
Richard Ågren, Niels Geerdink, Han G. Brunner, Martin Paucar, Erik-Jan Kamsteeg, Kristoffer Sahlholm
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10924 (2023)
A five-year-old girl presented with headache attacks, clumsiness, and a history of transient gait disturbances. She and her father, mother, twin sister, and brother underwent neurological evaluation, neuroimaging, and exome sequencing covering 357 ge
Externí odkaz:
https://doaj.org/article/447028757d904137b1786085202f81c5