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Richard J. Sinke

University of Groningen

51H指数
220论文数
7.8K被引数
收录论文 91
发表时间
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilityDNA优先的新生儿筛查:基于可治疗性的遗传代谢病筛查资格的系统评价
err2025-08-21
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PREAI
errAbigail Veldman; Birgit Sikkema-Raddatz; Terry G. J. Derks; Clara D. M. van Karnebeek; M. B. Gea Kiewiet; Margaretha F. Mulder; Marcel R. Nelen; M. Estela Rubio-Gozalbo; Richard J. Sinke; Monique G. de Sain-van der Velden; Gepke Visser; Maaike C. de Vries; Dineke Westra; Monique Williams; Ron A. Wevers; M. Rebecca Heiner-Fokkema; Francjan J. van Spronsen
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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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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing
err2024-03-11
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errOAAI
errBaardman, R.; Lemmink, H. H.; Yenamandra, V. K.; Commandeur-Jan, S. Z.; Viel, M.; Kooi, K. A.; Diercks, G. F. H.; Meijer, R.; van Geel, M.; Scheffer, H.; Sinke, R. J.; Sikkema-Raddatz, B.; Bolling, M. C.; van den Akker, P. C.
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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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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
err2022-02-24
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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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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
err2021-06-01
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errAlimohamed, Mohamed Z.; Johansson, Lennart F.; Posafalvi, Anna; Boven, Ludolf G.; van Dijk, Krista K.; Walters, Lisa; Vos, Yvonne J.; Westers, Helga; Hoedemaekers, Yvonne M.; Sinke, Richard J.; Sijmons, Rolf H.; Sikkema-Raddatz, Birgit; Jongbloed, Jan D. H.; van der Zwaag, Paul A.
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Feasibility of predicting allele specific expression from DNA sequencing using machine learning
err2021-05-19
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errZhang, Zhenhua; van Dijk, Freerk; de Klein, Niek; van Gijn, Marielle E.; Franke, Lude H.; Sinke, Richard J.; Swertz, Morris A.; van der Velde, K. Joeri
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Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?CACNA1H中罕见的功能错义变体: 我们可以从作家的抽筋中学到什么?
err2021-01-21
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errHuang, Miaozhen; Nibbeling, Esther A. R.; Lagrand, Tjerk J.; Souza, Ivana A.; Groen, Justus L.; Gandini, Maria A.; Zhang, Fang-Xiong; Koelman, Johannes H. T. M.; Adir, Noam; Sinke, Richard J.; Zamponi, Gerald W.; Tijssen, Marina A. J.; Verbeek, Dineke S.
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Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa
err2019-12-01
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errBremer, Jeroen; van der Heijden, Elisabeth H.; Eichhorn, Daryll S.; Meijer, Rowdy; Lemmink, Henny H.; Scheffer, Hans; Sinke, Richard J.; Jonkman, Marcel F.; Pasmooij, Anna M. G.; Van den Akker, Peter C.
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Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
err2019-09-07
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errAlmomani, Rowida; Herkert, Johanna C.; Posafalvi, Anna; Post, Jan G.; Boven, Ludolf G.; van der Zwaag, Paul A.; Willems, Peter H. G. M.; Van Veen-Hof, Ingrid H.; Verhagen, Judith M. A.; Wessels, Marja W.; Nikkels, Peter G. J.; Wintjes, Liesbeth T.; van den Berg, Maarten P.; Sinke, Richard J.; Rodenburg, Richard J.; Niezen-Koning, Klary E.; van Tintelen, J. Peter; Jongbloed, Jan D. H.
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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
err2019-09-03
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errFokkema, Ivo F. A. C.; van der Velde, Kasper J.; Slofstra, Mariska K.; Ruivenkamp, Claudia A. L.; Vogel, Maartje J.; Pfundt, Rolph; Blok, Marinus J.; Deprez, Ronald H. Lekanne; Waisfisz, Quinten; Abbott, Kristin M.; Sinke, Richard J.; Rahman, Rubayte; Nijman, Isaac J.; de Koning, Bart; Thijs, Gert; Wieskamp, Nienke; Moritz, Ruben J. G.; Charbon, Bart; Saris, Jasper J.; den Dunnen, Johan T.; Laros, Jeroen F. J.; Swertz, Morris A.; van Gijn, Marielle E.
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WHAT IS THE ORIGIN OF SEVERE HYPERCHOLESTEROLEMIA IN A LARGE COHORT OF EMIRATIS WITH A HIGH PREVALANCE OF TYPE 2 DIABETES
err2019-08-01
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PREAI
errRimbert, A.; Kuivenhoven, J. A.; Lansberg, P.; Viel, M.; Kanninga, R.; Johansson, L.; Kuipers, F.; Bloks, V.; van Faassen, M.; Koehorst, M.; Sinke, R.; Daggag, H.; Al Tikriti, A.; Barakat, M. T.
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GENDER-SPECIFIC DIFFERENCES AT BOTH EXTREME ENDS OF THE LDL CHOLESTEROL DISTRIBUTION CURVE
err2019-08-01
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PREAI
errRimbert, A.; Balder, J. W.; Zhang, X.; Wolters, K.; Lansberg, P.; Viel, M.; Kanninga, R.; Johansson, L.; Bloks, V.; van Daasen, M.; Koehorst, M.; Kuipers, F.; Sinke, R.; Groen, A.; Dallinga-Thie, G.; Kuivenhoven, J. A.
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Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis
err2019-06-28
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errDeelen, Patrick; van Dam, Sipko; Herkert, Johanna C.; Karjalainen, Juha M.; Brugge, Harm; Abbott, Kristin M.; van Diemen, Cleo C.; van der Zwaag, Paul A.; Gerkes, Erica H.; Zonneveld-Huijssoon, Evelien; Boer-Bergsma, Jelkje J.; Folkertsma, Pytrik; Gillett, Tessa; van der Velde, K. Joeri; Kanninga, Roan; van den Akker, Peter C.; Jan, Sabrina Z.; Hoorntje, Edgar T.; te Rijdt, Wouter P.; Vos, Yvonne J.; Jongbloed, Jan D. H.; van Ravenswaaij-Arts, Conny M. A.; Sinke, Richard; Sikkema-Raddatz, Birgit; Kerstjens-Frederikse, Wilhelmina S.; Swertz, Morris A.; Franke, Lude
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Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
err2018-11-01
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errOAAI
errHerkert, Johanna C.; Abbott, Kristin M.; Birnie, Erwin; Meems-Veldhuis, Martine T.; Boven, Ludolf G.; Benjamins, Marloes; Sarvaas, Gideon J. du Marchie; Barge-Schaapveld, Daniela Q. C. M.; van Tintelen, J. Peter; van der Zwaag, Paul A.; Vos, Yvonne J.; Sinke, Richard J.; van den Berg, Maarten P.; van Langen, Irene M.; Jongbloed, Jan D. H.
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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24
err2018-08-14
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errYenamandra, V. K.; van den Akker, P. C.; Lemmink, H. H.; Jan, S. Z.; Diercks, G. F. H.; Vermeer, M.; van den Berg, M. P.; van der Meer, P.; Pasmooij, A. M. G.; Sinke, R. J.; Jonkman, M. F.; Bolling, M. C.
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GENETICS, LIFESTYLE AND LDL CHOLESTEROL IN YOUNG AND APPARENTLY HEALTHY WOMEN
err2018-08-01
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PREAI
errBalder, J. W.; Rimbert, A.; Zhang, X.; Viel, M.; Kanninga, R.; van Dijk, F.; Lansberg, P.; Sinke, R.; Kuivenhoven, J. A.
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Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations
err2018-08-01
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errBolling, Maria C.; Jan, Sabrina Z.; Pasmooij, Anna M. G.; Lemmink, Henny H.; Franke, Lude H.; Yenamandra, Vamsi K.; Sinke, Richard J.; van den Akker, Peter C.; Jonkman, Marcel F.
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Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification
err2018-07-01
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errOAAI
errAlimohamed, Mohamed Z.; Johansson, Lennart F.; de Boer, Eddy N.; Splinter, Erik; Klous, Petra; Yilmaz, Mehmet; Bosga, Anneke; van Min, Max; Mulder, Andre B.; Vellenga, Edo; Sinke, Richard J.; Sijmons, Rolf H.; van den Berg, Eva; Sikkema-Raddatz, Birgit
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