Search Results - "Sinke, Richard J"

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics by Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Almomani, Rowida, Boven, Ludolf G., van den Berg, Maarten P., van Spaendonck-Zwarts, Karin Y., van Tintelen, J. Peter, Sijmons, Rolf H., Jongbloed, Jan D. H., Sinke, Richard J.

“…ABSTRACT Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger…”
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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia by Nibbeling, Esther A R, Duarri, Anna, Verschuuren-Bemelmans, Corien C, Fokkens, Michiel R, Karjalainen, Juha M, Smeets, Cleo J L M, de Boer-Bergsma, Jelkje J, van der Vries, Gerben, Dooijes, Dennis, Bampi, Giovana B, van Diemen, Cleo, Brunt, Ewout, Ippel, Elly, Kremer, Berry, Vlak, Monique, Adir, Noam, Wijmenga, Cisca, van de Warrenburg, Bart P C, Franke, Lude, Sinke, Richard J, Verbeek, Dineke S

“…The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative…”
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GAVIN: Gene-Aware Variant INterpretation for medical sequencing by van der Velde, K Joeri, de Boer, Eddy N, van Diemen, Cleo C, Sikkema-Raddatz, Birgit, Abbott, Kristin M, Knopperts, Alain, Franke, Lude, Sijmons, Rolf H, de Koning, Tom J, Wijmenga, Cisca, Sinke, Richard J, Swertz, Morris A

“…We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately classifies variants for clinical diagnostic purposes. Classifications are…”
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CoNVaDING: Single Exon Variation Detection in Targeted NGS Data by Johansson, Lennart F., van Dijk, Freerk, de Boer, Eddy N., van Dijk-Bos, Krista K., Jongbloed, Jan D.H., van der Hout, Annemieke H., Westers, Helga, Sinke, Richard J., Swertz, Morris A., Sijmons, Rolf H., Sikkema-Raddatz, Birgit

“…ABSTRACT We have developed a tool for detecting single exon copy‐number variations (CNVs) in targeted next‐generation sequencing data: CoNVaDING (Copy Number…”
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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19 by Duarri, Anna, Jezierska, Justyna, Fokkens, Michiel, Meijer, Michel, Schelhaas, Helenius J., den Dunnen, Wilfred F. A., van Dijk, Freerk, Verschuuren-Bemelmans, Corien, Hageman, Gerard, van de Vlies, Pieter, Küsters, Benno, van de Warrenburg, Bart P., Kremer, Berry, Wijmenga, Cisca, Sinke, Richard J., Swertz, Morris A., Kampinga, Harm H., Boddeke, Erik, Verbeek, Dineke S.

“…Objective: To identify the causative gene for the neurodegenerative disorder spinocerebellar ataxia type 19 (SCA19) located on chromosomal region 1p21‐q21…”
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CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations by Li, Shuang, van der Velde, K. Joeri, de Ridder, Dick, van Dijk, Aalt D. J, Soudis, Dimitrios, Zwerwer, Leslie R, Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, van Gijn, Marielle E, Abbott, Kristin, Sikkema-Raddatz, Birgit, van Diemen, Cleo C, Kerstjens-Frederikse, Wilhelmina S, Sinke, Richard J, Swertz, Morris A

“…Abstract Exome sequencing is now mainstream in clinical practice. However, identification of pathogenic Mendelian variants remains time-consuming, in part,…”
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Feasibility of predicting allele specific expression from DNA sequencing using machine learning by Zhang, Zhenhua, van Dijk, Freerk, de Klein, Niek, van Gijn, Mariëlle E, Franke, Lude H, Sinke, Richard J, Swertz, Morris A, van der Velde, K Joeri

“…Allele specific expression (ASE) concerns divergent expression quantity of alternative alleles and is measured by RNA sequencing. Multiple studies show that…”
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Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa by Bremer, 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.

“…Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the…”
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Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner by Duarri, Anna, Lin, Meng-Chin A, Fokkens, Michiel R, Meijer, Michel, Smeets, Cleo J. L. M, Nibbeling, Esther A. R, Boddeke, Erik, Sinke, Richard J, Kampinga, Harm H, Papazian, Diane M, Verbeek, Dineke S

“…The dominantly inherited cerebellar ataxias are a heterogeneous group of neurodegenerative disorders caused by Purkinje cell loss in the cerebellum. Recently,…”
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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead by Veldman, Abigail, Kiewiet, Mensiena B G, Heiner-Fokkema, Margaretha Rebecca, Nelen, Marcel R, Sinke, Richard J, Sikkema-Raddatz, Birgit, Voorhoeve, Els, Westra, Dineke, Dollé, Martijn E T, Schielen, Peter C J I, van Spronsen, Francjan J

“…Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is…”
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Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases by Duarri, Anna, Nibbeling, Esther A R, Fokkens, Michiel R, Meijer, Michel, Boerrigter, Melissa, Verschuuren-Bemelmans, Corien C, Kremer, Berry P H, van de Warrenburg, Bart P, Dooijes, Dennis, Boddeke, Erik, Sinke, Richard J, Verbeek, Dineke S

“…Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in the voltage…”
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Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp? by Huang, 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

“…Writer's cramp (WC) is a task-specific focal dystonia that occurs selectively in the hand and arm during writing. Previous studies have shown a role for…”
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Mendelian Disorders of High-Density Lipoprotein Metabolism by Oldoni, Federico, Sinke, Richard J, Kuivenhoven, Jan Albert

“…High-density lipoproteins (HDLs) are a highly heterogeneous and dynamic group of the smallest and densest lipoproteins present in the circulation. This review…”
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Rapid Targeted Genomics in Critically Ill Newborns by van Diemen, Cleo C, Kerstjens-Frederikse, Wilhelmina S, Bergman, Klasien A, de Koning, Tom J, Sikkema-Raddatz, Birgit, van der Velde, Joeri K, Abbott, Kristin M, Herkert, Johanna C, Löhner, Katharina, Rump, Patrick, Meems-Veldhuis, Martine T, Neerincx, Pieter B T, Jongbloed, Jan D H, van Ravenswaaij-Arts, Conny M, Swertz, Morris A, Sinke, Richard J, van Langen, Irene M, Wijmenga, Cisca

“…Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or…”
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Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype by Vlak, Monique H.M., Sinke, Richard J., Rabelink, Gwenda M., Kremer, Berry P.H., van de Warrenburg, Bart P.C.

“…We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a…”
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Is MYO9B the missing link between schizophrenia and celiac disease? by Jungerius, Bart J., Bakker, Steven C., Monsuur, Alienke J., Sinke, Richard J., Kahn, Rene S., Wijmenga, Cisca

“…There has long been discussion on the correlation between schizophrenia and autoimmune diseases (especially celiac disease), which makes the recently…”
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Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: A dutch population based case-control study by Muntjewerff, Jan-Willem, Hoogendoorn, Mechteld L.C., Kahn, René S., Sinke, Richard J., Heijer, Martin Den, Kluijtmans, Leo A.J., Blom, Henk J.

“…Evidence for an involvement of aberrant homocysteine metabolism in the aetiology of schizophrenia is limited and controversial. A case‐control study was…”
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MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts by van den Boogaard, Marie-José H, de Costa, Dominique, Krapels, Ingrid P. C, Liu, Fan, van Duijn, Cock, Sinke, Richard J, Lindhout, Dick, Steegers-Theunissen, Régine P. M

“…Nonsyndromic orofacial clefts (OFC) are common birth defects caused by certain genes interacting with environmental factors. Mutations and association studies…”
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Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases by Plantinga, Mirjam, Birnie, Erwin, Abbott, Kristin M, Sinke, Richard J, Lucassen, Anneke M, Schuurmans, Juliette, Kaplan, Seyma, Verkerk, Marian A, Ranchor, Adelita V, van Langen, Irene M

“…With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the…”
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Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy by van Spaendonck-Zwarts, Karin Y, Posafalvi, Anna, van den Berg, Maarten P, Hilfiker-Kleiner, Denise, Bollen, Ilse A E, Sliwa, Karen, Alders, Mariëlle, Almomani, Rowida, van Langen, Irene M, van der Meer, Peter, Sinke, Richard J, van der Velden, Jolanda, Van Veldhuisen, Dirk J, van Tintelen, J Peter, Jongbloed, Jan D H

“…Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that…”
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