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Marcel Nelen

Radboud University Nijmegen

41H指数
103论文数
1.0W被引数
收录论文 36
发表时间
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling脊髓性肌萎缩症的从头删除: 对携带者检测和遗传咨询的影响
err2025-03-01
err0
errOAAI
errZwartkruis, Maria M.; de Pagter, Mirjam S.; Gommers, Demi; Koopmans, Marije; Ottenheim, Cecile P. E.; Kortooms, Joris, V; Albring, Mirjan; Elferink, Martin G.; Wadman, Renske, I; Asselman, Fay-Lynn; Cuppen, Inge; van der Pol, W. Ludo; Nelen, Marcel R.; van Haaften, Gijs W.; Groen, Ewout J. N.
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
err2024-12-28
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errOAAI
errVeldman, Abigail; Sikkema-Raddatz, Birgit; Derks, Terry G. J.; van Karnebeek, Clara D. M.; Kiewiet, M. B. Gea; Mulder, Margaretha F.; Nelen, Marcel R.; Rubio-Gozalbo, M. Estela; Sinke, Richard J.; de van der Velden, Monique G.; Visser, Gepke; de Vries, Maaike C.; Westra, Dineke; Williams, Monique; Wevers, Ron A.; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy荷兰基于NGS的新生儿筛查的未来:技术可能性探索及变异分类策略评估
err2024-03-07
err6
errOAAI
errKiewiet, Gea; Westra, Dineke; de Boer, Eddy N.; van Berkel, Emma; Hofste, Tom G. J.; van Zweeden, Martine; Derks, Ronny C.; Leijsten, Nico F. A.; Ruiterkamp-Versteeg, Martina H. A.; Charbon, Bart; Johansson, Lennart; Bos-Kruizinga, Janneke; Veenstra, Inge J.; de van der Velden, Monique G. M.; Voorhoeve, Els; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan; Sikkema-Raddatz, Birgit; Nelen, Marcel
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencingTwist外显子组捕获允许临床外显子组测序中较低的平均序列覆盖率
err2023-05-03
err7
errOAAI
errYaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Galbany, Jordi Corominas; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Solve-RD consortium
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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands快速外显子组测序作为疑似遗传病新生儿的一级检测: 荷兰一项前瞻性多中心临床效用研究的结果
err2023-03-31
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errOAAI
errOlde Keizer, Richelle A. C. M.; Marouane, Abderrahim; Kerstjens-Frederikse, Wilhelmina; Deden, A. Chantal; Lichtenbelt, Klaske; Jonckers, Tinneke; Vervoorn, Marieke; Vreeburg, Maaike; Henneman, Lidewij; de Vries, Linda; Sinke, Richard; Pfundt, Rolph; Stevens, Servi J. C.; Andriessen, Peter; van Lingen, Richard; Nelen, Marcel; Scheffer, Hans; Stemkens, Daphne; Oosterwijk, Cor; van Amstel, Hans Kristian Ploos; de Boode, Willem; van Zelst-Stams, Wendy A. G.; Frederix, Geert W. J.; Vissers, Lisenka E. L. M.
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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease- associated genes光学基因组图谱和重新审视短读基因组测序数据揭示了先前被忽视的破坏视网膜疾病相关基因的结构变异
err2023-03-01
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errBruijn, Suzanne E. de; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S.; Berger, Wolfgang; Farrar, G. Jane; Kovaecs, Arpaed Ferenc; Fajardy, Isabelle; Hitti-Malin, Rebekkah J.; Weisschuh, Nicole; Weener, Marianna E.; Sharon, Dror; Pennings, Ronald J. E.; Haer-Wigman, Lonneke; Hoyng, Carel B.; Nelen, Marcel R.; Vissers, Lisenka E. L. M.; van den Born, L. Ingeborgh; Gilissen, Christian; Cremers, Frans P. M.; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne
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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in newborns新生儿脑膜黄瘤病筛查: 一项在新生儿中使用流动注射和uplc-ms/MS分析的回顾性生物标志物研究
err2023-01-01
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errVaz, Frederic M.; Jamal, Youssra; Barto, Rob; Gelb, Michael H.; DeBarber, Andrea E.; Wevers, Ron A.; Nelen, Marcel R.; Verrips, Aad; Bootsma, Albert H.; Bouva, Marelle J.; Kleise, Nick; van der Zee, Walter; He, Tao; Salomons, Gajja S.; Huidekoper, Hidde H.
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Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene
err2022-11-22
err1
errOAAI
errKuijpers, Taco W.; de Vries, Andrica C. H.; van Leeuwen, Ester M.; Ermens, A. (Ton) A. M.; de Pont, Saskia; Smith, Desiree E. C.; Wamelink, Mirjam M. C.; Mensenkamp, Arjen R.; Nelen, Marcel R.; Allen, Hana Lango; Pals, Steven T.; Beverloo, Berna H. B.; Huidekoper, Hidde H.; Wagner, Anja
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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
err2022-09-16
err42
errOAAI
errvan der Sanden, Bart P. G. H.; Schobers, Gaby; Galbany, Jordi Corominas; Koolen, David A.; Sinnema, Margje; van Reeuwijk, Jeroen; Stumpel, Connie T. R. M.; Kleefstra, Tjitske; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; Leijsten, Nico; Kwint, Michael; Derks, Ronny; Swinkels, Hilde; den Ouden, Amber; Pfundt, Rolph; Rinne, Tuula; de Leeuw, Nicole; Stegmann, Alexander P.; Stevens, Servi J.; van den Wijngaard, Arthur; Brunner, Han G.; Yntema, Helger G.; Gilissen, Christian; Nelen, Marcel R.; Vissers, Lisenka E. L. M.
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A multi-platform reference for somatic structural variation detection
err2022-06-01
err7
errOAAI
errValle-Inclan, Jose Espejo; Besselink, Nicolle J. M.; de Bruijn, Ewart; Cameron, Daniel L.; Ebler, Jana; Kutzera, Joachim; van Lieshout, Stef; Marschall, Tobias; Nelen, Marcel; Priestley, Peter; Renkens, Ivo; Roemer, Margaretha G. M.; Roosmalen, Markus J. van; Wenger, Aaron M.; Ylstra, Bauke; Fijneman, Remond J. A.; Kloosterman, Wigard P.; Cuppen, Edwin
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Clinical exome sequencing-Mistakes and caveats临床外显子组测序-错误和注意事项
err2022-03-15
err30
errOAAI
errCorominas, Jordi; Smeekens, Sanne P.; Nelen, Marcel R.; Yntema, Helger G.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Gilissen, Christian
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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
err2022-02-24
err24
errOAAI
errVeldman, Abigail; Kiewiet, Mensiena B. G.; Heiner-Fokkema, Margaretha Rebecca; Nelen, Marcel R.; Sinke, Richard J.; Sikkema-Raddatz, Birgit; Voorhoeve, Els; Westra, Dineke; Dolle, Martijn E. T.; Schielen, Peter C. J., I; van Spronsen, Francjan J.
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Long-read technologies identify a hidden inverted duplication in a family with choroideremia
err2021-10-01
err14
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errFadaie, Zeinab; Neveling, Kornelia; Mantere, Tuomo; Derks, Ronny; Haer-Wigman, Lonneke; den Ouden, Amber; Kwint, Michael; O'Gorman, Luke; Valkenburg, Dyon; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Nelen, Marcel; Cremers, Frans P. M.; Hoischen, Alexander; Roosing, Susanne
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Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors
err2021-07-29
err24
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errSabatella, Mariangela; Mantere, Tuomo; Waanders, Esme; Neveling, Kornelia; Mensenkamp, Arjen R.; van Dijk, Freerk; Hehir-Kwa, Jayne Y.; Derks, Ronnie; Kwint, Michael; O'Gorman, Luke; Tropa Martins, Madalena; Gidding, Corrie E. M.; Lequin, Maarten H.; Kusters, Benno; Wesseling, Pieter; Nelen, Marcel; Biegel, Jacklyn A.; Hoischen, Alexander; Jongmans, Marjolijn C.; Kuiper, Roland P.
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Long-read trio sequencing of individuals with unsolved intellectual disability (Nov, 10.1038/s41431-020-00770-0, 2020)
err2021-03-26
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errPauper, Marc; Kucuk, Erdi; Wenger, Aaron M.; Chakraborty, Shreyasee; Baybayan, Primo; Kwint, Michael; van der Sanden, Bart; Nelen, Marcel R.; Derks, Ronny; Brunner, Han G.; Hoischen, Alexander; Vissers, Lisenka E. L. M.; Gilissen, Christian
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Long-read trio sequencing of individuals with unsolved intellectual disability
err2020-11-30
err32
errOAAI
errPauper, Marc; Kucuk, Erdi; Wenger, Aaron M.; Chakraborty, Shreyasee; Baybayan, Primo; Kwint, Michael; van der Sanden, Bart; Nelen, Marcel R.; Derks, Ronny; Brunner, Han G.; Hoischen, Alexander; Vissers, Lisenka E. L. M.; Gilissen, Christian
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Presence of Genetic Variants Among Young Men With Severe COVID-19
err2020-08-18
err549
errOAAI
errvan der Made, Caspar I.; Simons, Annet; Schuurs-Hoeijmakers, Janneke; van den Heuvel, Guus; Mantere, Tuomo; Kersten, Simone; van Deuren, Rosanne C.; Steehouwer, Marloes; van Reijmersdal, Simon V.; Jaeger, Martin; Hofste, Tom; Astuti, Galuh; Corominas Galbany, Jordi; van der Schoot, Vyne; van der Hoeven, Hans; Hagmolen Of ten Have, Wanda; Klijn, Eva; van den Meer, Catrien; Fiddelaers, Jeroen; de Mast, Quirijn; Bleeker-Rovers, Chantal P.; Joosten, Leo A. B.; Yntema, Helger G.; Gilissen, Christian; Nelen, Marcel; van der Meer, Jos W. M.; Brunner, Han G.; Netea, Mihai G.; van de Veerdonk, Frank L.; Hoischen, Alexander
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Structural variant detection with long read sequencing reveals driver and passenger mutationsin a melanoma cell line
err2019-07-01
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PREAI
errWenger, Aaron; Nelen, Marcel; Ashby, Meredith; Kloosterman, Wigard P.
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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders在大型遗传性疾病队列中通过外显子组测序检测临床相关的拷贝数变异
err2017-06-01
err139
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errPfundt, Rolph; del Rosario, Marisol; Vissers, Lisenka E. L. M.; Kwint, Michael P.; Janssen, Irene M.; de Leeuw, Nicole; Yntema, Helger G.; Nelen, Marcel R.; Lugtenberg, Dorien; Kamsteeg, Erik-Jan; Wieskamp, Nienke; Stegmann, Alexander P. A.; Stevens, Servi J. C.; Rodenburg, Richard J. T.; Simons, Annet; Mensenkamp, Arjen R.; Rinne, Tuula; Gilissen, Christian; Scheffer, Hans; Veltman, Joris A.; Hehir-Kwa, Jayne Y.
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment
err2017-02-22
err108
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errHaer-Wigman, Lonneke; van Zelst-Stams, Wendy A. G.; Pfundt, Rolph; van den Born, L. Ingeborgh; Klaver, Caroline C. W.; Verheij, Joke B. G. M.; Hoyng, Carel B.; Breuning, Martijn H.; Boon, Camiel J. F.; Kievit, Anneke J.; Verhoeven, Virginie J. M.; Pott, Jan W. R.; Sallevelt, Suzanne C. E. H.; van Hagen, Johanna M.; Plomp, Astrid S.; Kroes, Hester Y.; Lelieveld, Stefan H.; Hehir-Kwa, Jayne Y.; Castelein, Steven; Nelen, Marcel; Scheffer, Hans; Lugtenberg, Dorien; Cremers, Frans P. M.; Hoefsloot, Lies; Yntema, Helger G.
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