Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Arthur, van den Wijngaard"'
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:
Aaron Isaacs, Andrei Barysenka, Rachel M.A. ter Bekke, Apollonia T.J.M. Helderman-van den Enden, Arthur van den Wijngaard, Paul G.A. Volders, Monika Stoll
Publikováno v:
Heart Rhythm. 20(5):720-727
Background: The Worm Study, ascertained from a multigeneration pedigree segregating a single amino acid deletion in SCN5A (c.4850_4852delTCT, p.(Phe1617del), rs749697698), is characterized by substantial phenotypic heterogeneity and overlap of sudden
Autor:
Job A.J. Verdonschot, Ping Wang, Kasper W.J. Derks, Michiel E. Adriaens, Sophie L.V.M. Stroeks, Michiel T.H.M. Henkens, Anne G. Raafs, Maurits Sikking, Bart de Koning, Arthur van den Wijngaard, Ingrid P.C. Krapels, Miranda Nabben, Han G. Brunner, Stephane R.B. Heymans
Publikováno v:
JACC: Basic to Translational Science. 8:406-418
Autor:
Jaap I. van Waning, Yvonne M. Hoedemaekers, Wouter P. te Rijdt, Arne I. Jpma, Daphne Heijsman, Kadir Caliskan, Elke S. Hoendermis, Tineke P. Willems, Arthur van den Wijngaard, Albert Suurmeijer, Marjon A. van Slegtenhorst, Jan D.H. Jongbloed, Danielle F. Majoor-Krakauer, Paul A. van der Zwaag
Publikováno v:
Cardiogenetics, Vol 9, Iss 1 (2019)
The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLN
Externí odkaz:
https://doaj.org/article/a6e065bad67c4aa9b96b6f91545fe641
Autor:
Sophie L. V. M. Stroeks, Debby Hellebrekers, Godelieve R. F. Claes, Ingrid P. C. Krapels, Michiel H. T. M. Henkens, Maurits Sikking, Els K. Vanhoutte, Apollonia Helderman-van den Enden, Han G. Brunner, Arthur van den Wijngaard, Job A. J. Verdonschot
Publikováno v:
European Journal of Human Genetics.
It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated cardiomyopathy (DCM). We explored the diagnostic and prognostic relevance of testing DCM patients with
Autor:
Michiel T.H.M. Henkens, Anne G. Raafs, Tim van Loon, Jacqueline L. Vos, Arthur van den Wijngaard, Han G. Brunner, Ingrid P.C. Krapels, Christian Knackstedt, Suzanne Gerretsen, Mark R. Hazebroek, Kevin Vernooy, Robin Nijveldt, Joost Lumens, Job A.J. Verdonschot
Publikováno v:
Journal of Cardiac Failure.
Autor:
Bart P. G. H. 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. Stegmann, Servi J. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel R. Nelen, Lisenka E. L. M. Vissers
Publikováno v:
European Journal of Human Genetics, 31, 1, pp. 81-88
European Journal of Human Genetics, 31(1), 81-88. Nature Publishing Group
European Journal of Human Genetics, 31, 81-88
European Journal of Human Genetics, 31(1), 81-88. Nature Publishing Group
European Journal of Human Genetics, 31, 81-88
Contains fulltext : 290609.pdf (Publisher’s version ) (Open Access) Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbe9ba94a13c894fbcc6b704f44764b
https://repository.ubn.ru.nl/handle/2066/290609
https://repository.ubn.ru.nl/handle/2066/290609
Autor:
Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge-Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra Vohra, Paul G.A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles
Publikováno v:
Circulation. Genomic and Precision Medicine, 16, 1
Circulation: Genomic and Precision Medicine, 16(1):E003672. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Genomic and precision medicine, 16(1). Lippincott Williams and Wilkins Ltd.
Circulation: Genomic and Precision Medicine, 16(1), 69-79. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 16
Circulation: Genomic and Precision Medicine, 16(1). Lippincott Williams & Wilkins
Circulation: Genomic and Precision Medicine, 16(1):E003672. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Genomic and precision medicine, 16(1). Lippincott Williams and Wilkins Ltd.
Circulation: Genomic and Precision Medicine, 16(1), 69-79. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 16
Circulation: Genomic and Precision Medicine, 16(1). Lippincott Williams & Wilkins
Background: Truncating variants in desmoplakin ( DSP tv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168e6f2d791aa1fd96556c202c710360
Autor:
Sophie L.V.M. Stroeks, Ida G. Lunde, Debby M.E.I. Hellebrekers, Godelieve R.F. Claes, Hiroko Wakimoto, Joshua Gorham, Ingrid P.C. Krapels, Els K. Vanhoutte, Arthur van den Wijngaard, Michiel T.H.M. Henkens, Anne G. Raafs, Maurits A. Sikking, Jos L.V. Broers, Miranda Nabben, Elizabeth A.V. Jones, Stephane R.B. Heymans, Han G. Brunner, Job A.J. Verdonschot
Publikováno v:
Circulation. Genomic and Precision Medicine, 16, 2
Circulation. Genomic and Precision Medicine, 16
Circulation. Genomic and Precision Medicine, 16
Background: Dilated cardiomyopathy (DCM) was considered a monogenetic disease that can be caused by over 60 genes. Evidence suggests that the combination of multiple pathogenic variants leads to greater disease severity and earlier onset. So far, not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb94c3a2c1bb818301f92ecf7b5f346f
https://doi.org/10.1161/CIRCGEN.122.003788
https://doi.org/10.1161/CIRCGEN.122.003788
Autor:
Edgar T, Hoorntje, Charlotte, Burns, Luisa, Marsili, Ben, Corden, Victoria N, Parikh, Gerard J, Te Meerman, Belinda, Gray, Ahmet, Adiyaman, Richard D, Bagnall, Daniela Q C M, Barge-Schaapveld, Maarten P, van den Berg, Marianne, Bootsma, Laurens P, Bosman, Gemma, Correnti, Johan, Duflou, Ruben N, Eppinga, Diane, Fatkin, Michael, Fietz, Eric, Haan, Jan D H, Jongbloed, Arnaud D, Hauer, Lien, Lam, Freyja H M, van Lint, Amrit, Lota, Carlo, Marcelis, Hugh J, McCarthy, Anneke M, van Mil, Rogier A, Oldenburg, Nicholas, Pachter, R Nils, Planken, Chloe, Reuter, Christopher, Semsarian, Jasper J, van der Smagt, Tina, Thompson, Jitendra, Vohra, Paul G A, Volders, Jaap I, van Waning, Nicola, Whiffin, Arthur, van den Wijngaard, Ahmad S, Amin, Arthur A M, Wilde, Gijs, van Woerden, Laura, Yeates, Dominica, Zentner, Euan A, Ashley, Matthew T, Wheeler, James S, Ware, J Peter, van Tintelen, Jodie, Ingles
Publikováno v:
Circulation. Genomic and precision medicine.
Truncating variants in desmoplakin (Individuals withThere were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with aIn the largest series of individuals with