Zobrazeno 1 - 10 of 27 pro vyhledávání: '"Wendy A. G. van Zelst-Stams"'
1
Akademický článek
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
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
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2
Akademický článek
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Autor: Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
Publikováno v: Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single ge
Externí odkaz: https://doaj.org/article/1fc9affd647845a3af9208be55433db4
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3
How to inform at-risk relatives?
Autor: Floor Willeboordse, Lieke M. van den Heuvel, Wendy A. G. van Zelst-Stams, Daphne Stemkens, Imke Christiaans
Publikováno v: Journal of Genetic Counseling, 29, 5, pp. 786-99
Journal of genetic counseling, 29(5), 786-799. SPRINGER
Journal of Genetic Counseling
Journal of genetic counseling. Kluwer Academic/Human Sciences Press Inc.
Journal of Genetic Counseling, 29, 786-99
The uptake of predictive DNA testing in families with a hereditary disease is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff951047ce7ce5cfa15f4211ee474c6
https://doi.org/10.1002/jgc4.1206
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4
Komt een familie bij de dokter
Autor: Wendy A. G. van Zelst-Stams, Jacqueline Pot, Karen van der Lande-Voskuil, Laura van Dussen, Daphne Stemkens, Anne-Marie de Ruiter
Publikováno v: Huisarts en wetenschap. 64:47-49
De huisarts is het eerste aanspreekpunt voor families waarin erfelijke aandoeningen voorkomen. Het gaat daarbij niet alleen om inhoudelijke vragen over de aandoening, maar ook om vragen rond de verwijzing naar de klinisch geneticus en eventueel DNA-o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5cbcfb831ae7902001072b29bb314a19
https://doi.org/10.1007/s12445-021-1031-4
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5
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy
Autor: Wendy A. G. van Zelst-Stams, Alberta A H J Thiadens, Laurence H M Pierrache, Caroline C W Klaver, Rob W.J. Collin, Yvonne de Jong-Hesse, Lonneke Haer-Wigman, L. Ingeborgh van den Born, Muriël Messchaert
Publikováno v: Investigative Ophthalmology and Visual Science, 60, 6, pp. 2049-2063
Pierrache, L H M, Messchaert, M, Thiadens, A A H J, Haer-Wigman, L, de Jong-Hesse, Y, van Zelst-Stams, W A G, Collin, R W J, Klaver, C C W & van den Born, L I 2019, ' Extending the spectrum of EYS-associated retinal disease to macular dystrophy ', Investigative Ophthalmology and Visual Science, vol. 60, no. 6, pp. 2049-2063 . https://doi.org/10.1167/iovs.18-25531
Investigative Ophthalmology and Visual Science, 60(6), 2049-2063
Investigative Ophthalmology & Visual Science, 60(6), 2049-2063. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 60, 2049-2063
textabstractPURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic cohort study (N ¼ 30) with biallelic EYS variants from a clinical IRD database (retinitis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa3ba5ef4ca68e58b23531c318cb3312
https://pure.eur.nl/en/publications/644e1a18-ddf2-4177-9a9a-cccc41b99b6f
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6
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
Autor: Mariet W. Elting, Thatjana Gardeitchik, Esther Sikkel, Nicole Corsten-Janssen, Brigitte H. W. Faas, Merel C. van Maarle, Klaske D. Lichtenbelt, Servi J. C. Stevens, Kornelia Neveling, Lisenka E.L.M. Vissers, Helger G. Yntema, Suzanne C E H Sallevelt, Marcel R. Nelen, Christian Gilissen, Nicole de Leeuw, Guus Lachmeijer, Dimitra Zafeiropopoulou, Aimee D C Paulussen, Chantal Deden, Rolph Pfundt, Ilse Feenstra, Karin E. M. Diderich, Wendy A. G. van Zelst-Stams, Tuula Rinne
Publikováno v: Prenatal Diagnosis, 40, 972-983
Prenatal diagnosis, 40(8), 972-983. John Wiley and Sons Ltd
Prenatal Diagnosis
Prenatal Diagnosis, 40(8), 972-983. John Wiley & Sons Ltd.
Prenatal Diagnosis, 40(8), 972-983. Wiley-Blackwell
Prenatal Diagnosis, 40, 8, pp. 972-983
Prenatal Diagnosis, 40(8), 972-983. Wiley
Contains fulltext : 225140.pdf (Publisher’s version ) (Open Access) OBJECTIVE: The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wid
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ed61a70a946ff5cd09b44f4b2509b3
http://hdl.handle.net/2066/225140
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7
Development of refractive errors - what can we learn from inherited retinal dystrophies?
Autor: Laurence H M Pierrache, Reinier O. Schlingemann, Jan Willem R. Pott, Clasien J. Oomen, Jan Roelof Polling, Michelle Hendriks, Hester Y. Kroes, Wendy A. G. van Zelst-Stams, Albert Hofman, Frans P.M. Cremers, Mary J. van Schooneveld, Redmer van Leeuwen, Ramon A. C. van Huet, F. Nienke Boonstra, Mies M. van Genderen, Caroline C W Klaver, Carel B. Hoyng, Maarten Kamermans, Camiel J. F. Boon, Magda A. Meester-Smoor, L. Ingeborgh van den Born, Nathalie M. Bax, Stanley Lambertus, Virginie J. M. Verhoeven, Yvonne de Jong-Hesse, Arthur A.B. Bergen, J Schuil, Astrid S. Plomp, Gabriëlle H.S. Buitendijk, B Jeroen Klevering
Publikováno v: American Journal of Ophthalmology, 182, 81-89. Elsevier Inc.
Hendriks, M, Verhoeven, V J M, Buitendijk, G H S, Polling, J R, Meester-Smoor, M A, Hofman, A, Kamermans, M, Ingeborgh van den Born, L, Klaver, C C W & RD5000 Consortium 2017, ' Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies? ', American Journal of Ophthalmology, vol. 182, pp. 81-89 . https://doi.org/10.1016/j.ajo.2017.07.008
American Journal of Ophthalmology, 182, 81-89
American Journal of Ophthalmology, 182, 81-89. Elsevier USA
American Journal of Ophthalmology, 182, pp. 81-89
American Journal of Ophthalmology, 182, 81. Elsevier USA
American Journal of Ophthalmology
American journal of ophthalmology, 182, 81-89. Elsevier USA
PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcea991019b6ecc07882ea584a3c484a
https://doi.org/10.1016/j.ajo.2017.07.008
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8
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
Autor: Carla Oliveira, Roland P. Kuiper, Hildegunn Høberg-Vetti, James R. Lupski, Encarna B. Gomez Garcia, Margreet G. E. M. Ausems, Christian Gilissen, Liesbeth Spruijt, Elke Holinski-Feder, C. Marleen Kets, Urszula Teodorczyk, Jelle J. Goeman, Rachel S. van der Post, Ad Geurts van Kessel, Anja Wagner, Alexander Hoischen, Anna Jakubowska, Wendy A. G. van Zelst-Stams, Rolf H. Sijmons, Cora M. Aalfs, Nicoline Hoogerbrugge, Maartje van de Vorst, Marjolijn J. L. Ligtenberg, Maurizio Genuardi, Shalini N. Jhangiani, Jan Lubinski, Lisenka E.L.M. Vissers, Frederik J. Hes, Inga Bjørnevoll, J. Han van Krieken, Hugo Pinheiro, Hans K. Schackert, Joep de Ligt, Ingrid P. Vogelaar, Guglielmina Nadia Ranzani, Donna M. Muzny, Liselotte P. van Hest, Richard A. Gibbs, Lizet E. van der Kolk, Valeria Molinaro
Publikováno v: European Journal of Human Genetics, 25, 11, pp. 1246-1252
European Journal of Human Genetics, 25(11), 1246. Nature Publishing Group
European Journal of Human Genetics, 25(11), 1246-1252. Nature Publishing Group
European journal of human genetics, 25(11), 1246-1252. Nature Publishing Group
European Journal of Human Genetics, 25, 1246-1252
European Journal of Human Genetics
Vogelaar, I P, Van Der Post, R S, Van Krieken, J H J M, Spruijt, L, Van Zelst-Stams, W A G, Kets, C M, Lubinski, J, Jakubowska, A, Teodorczyk, U, Aalfs, C M, Van Hest, L P, Pinheiro, H, Oliveira, C, Jhangiani, S N, Muzny, D M, Gibbs, R A, Lupski, J R, De Ligt, J, Vissers, L E L M, Hoischen, A, Gilissen, C, Van De Vorst, M, Goeman, J J, Schackert, H K, Ranzani, G N, Molinaro, V, García, E B G, Hes, F J, Holinski-Feder, E, Genuardi, M, Ausems, M G E M, Sijmons, R H, Wagner, A, Van Der Kolk, L E, Bjørnevoll, I, Høberg-Vetti, H, Van Kessel, A G, Kuiper, R P, Ligtenberg, M J L & Hoogerbrugge, N 2017, ' Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing ', European Journal of Human Genetics, vol. 25, no. 11, pp. 1246-1252 . https://doi.org/10.1038/ejhg.2017.138
European Journal of Human Genetics, 25(11), 1246-1252
Contains fulltext : 182216.pdf (Publisher’s version ) (Open Access) Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables preventive measures. However, the underlying cause of genetic susceptibility to gastric canc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8924302c8b22121fd84e066e6595ac39
https://doi.org/10.1038/ejhg.2017.138
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9
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Autor: Jayne Y. Hehir-Kwa, Njood Alenezi, Stefan H. Lelieveld, Badr Alsaleem, Arjen R. Mensenkamp, Marcel van Deuren, Christian Gilissen, Mofareh AlZahrani, Murad K. Habazi, Eman AlIdrissi, Mihai G. Netea, Alaa B. Alsaad, Pieter van Paassen, Wendy A. G. van Zelst-Stams, Hadeel A. AlJubab, Maartje van de Vorst, Sarah Hortillosa, Joris A. Veltman, Abdulrahman Al-Hussaini, Stefanie S. V. Henriet, Anja Wagner, Hamza A. AlGhamdi, Fahad AlManjomi, Maaike Vreeburg, Annet Simons, Walid Ballourah, Esther P A H Hoppenreijs, Chantal P. Bleeker-Rovers, Jukka S. Moilanen, M.A. MacKenzie, Dimitra Zafeiropoulou, Abdulrahman A. Andijani, Michiel van der Flier, Peer Arts, Judith Potjewijd, Eissa Faqeih, Koen J. van Aerde, Gijs Th. J. van Well, Frank L. van de Veerdonk, Erica H. Gerkes, Anna Simon, Tomasz Stokowy, Evelien Zonneveld-Huijssoon, Ali Asery, Khurram Lone, Chantal Kerkhofs, Janneke H M Schuurs-Hoeijmakers, Marcel R. Nelen, Riikka Keski-Filppula, Jaap ten Oever, Alexander Hoischen, Elanur Yilmaz
Publikováno v: Genome Medicine, 11, 1
Genome Medicine
Genome medicine, 11:38. BMC
Genome Medicine, 11:38, 1-15. BioMed Central Ltd
Genome Medicine, 11:38. BioMed Central Ltd.
Genome Medicine, 11
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic tes
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04ce74acbb094de4102667590f55cd7
https://hdl.handle.net/2066/204759
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10
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
Autor: Judith B. Prins, Arjen R. Mensenkamp, Han G. Brunner, Liesbeth Spruijt, Wendy A. G. van Zelst-Stams, Aisha S. Sie, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge
Publikováno v: Journal of Genetic Counseling, 25, 3, pp. 504-14
Journal of Genetic Counseling, 25, 504-14
Journal of Genetic Counseling
Contains fulltext : 167845.pdf (Publisher’s version ) (Open Access) According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d244afd489903a34af17154e7ef8eae
https://doi.org/10.1007/s10897-015-9899-4
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