Search Results - "BOVEN, Ludolf G"

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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Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy by Almomani, Rowida, PhD, Verhagen, Judith M.A., MD, Herkert, Johanna C., MD, Brosens, Erwin, PhD, van Spaendonck-Zwarts, Karin Y., MD, PhD, Asimaki, Angeliki, PhD, van der Zwaag, Paul A., MD, PhD, Frohn-Mulder, Ingrid M.E., MD, Bertoli-Avella, Aida M., MD, PhD, Boven, Ludolf G., BSc, van Slegtenhorst, Marjon A., PhD, van der Smagt, Jasper J., MD, van IJcken, Wilfred F.J., PhD, Timmer, Bert, MD, PhD, van Stuijvenberg, Margriet, MD, PhD, Verdijk, Rob M., MD, PhD, Saffitz, Jeffrey E., MD, PhD, du Plessis, Frederik A., MD, Michels, Michelle, MD, PhD, Hofstra, Robert M.W., PhD, Sinke, Richard J., PhD, van Tintelen, J. Peter, MD, PhD, Wessels, Marja W., MD, PhD, Jongbloed, Jan D.H., PhD, van de Laar, Ingrid M.B.H., MD, PhD

“…Abstract Background Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding…”
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Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy by Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H., Jongbloed, Jan D. H., Boven, Ludolf G., van den Berg, Maarten P., Pinto, Yigal M., Alastalo, Tero-Pekka, Myllykangas, Samuel, Spaendonck-Zwarts, Karin van, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha

“…Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant sarcomere gene, titin ( TTN ), as a major human…”
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Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants by Jansen, Mark, Schuldt, Maike, van Driel, Beau O, Schmidt, Amand F, Christiaans, Imke, van der Crabben, Saskia N, Hoedemaekers, Yvonne M, Dooijes, Dennis, Jongbloed, Jan D H, Boven, Ludolf G, Deprez, Ronald H Lekanne, Wilde, Arthur A M, Jans, Judith J M, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, Baas, Annette F

“…Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic variants, and a significant cause of sudden…”
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Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy by VAN TINTELEN, J. Peter, ENTIUS, Mark M, HOFSTRA, Robert M. W, OTTERSPOOR, Luuk C, DOEVENDANS, Pieter A. F. M, RODRIGUEZ, Luz-Maria, VAN GELDER, Isabelle C, HAUER, Richard N. W, BHUIYAN, Zahurul A, JONGBLOED, Roselie, WIESFELD, Ans C. P, WILDE, Arthur A. M, VAN DER SMAGT, Jasper, BOVEN, Ludolf G, MANNENS, Marcel M. A. M, VAN LANGEN, Irene M

“…Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC). Hence, genetic…”
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Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients by Bolling, Marieke C., Jongbloed, Jan D.H., Boven, Ludolf G., Diercks, Gilles F.H., Smith, Frances J.D., Irwin McLean, W.H., Jonkman, Marcel F.

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No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy by Hoorntje, Edgar T, Posafalvi, Anna, Syrris, Petros, van der Velde, K Joeri, Bolling, Marieke C, Protonotarios, Alexandros, Boven, Ludolf G, Amat-Codina, Nuria, Groeneweg, Judith A, Wilde, Arthur A, Sobreira, Nara, Calkins, Hugh, Hauer, Richard N W, Jonkman, Marcel F, McKenna, William J, Elliott, Perry M, Sinke, Richard J, van den Berg, Maarten P, Chelko, Stephen P, James, Cynthia A, van Tintelen, J Peter, Judge, Daniel P, Jongbloed, Jan D H

“…Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular…”
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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems by Brooks, Alice S., Bertoli-Avella, Aida M., Burzynski, Grzegorz M., Breedveld, Guido J., Osinga, Jan, Boven, Ludolf G., Hurst, Jane A., Mancini, Grazia M.S., Lequin, Maarten H., de Coo, Rene F., Matera, Ivana, de Graaff, Esther, Meijers, Carel, Willems, Patrick J., Tibboel, Dick, Oostra, Ben A., Hofstra, Robert M.W.

“…We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic…”
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Novel Methods for Genetic Transformation of Natural Bacillus subtilis Isolates Used To Study the Regulation of the Mycosubtilin and Surfactin Synthetases by Duitman, Erwin H, Wyczawski, Dobek, Boven, Ludolf G, Venema, Gerard, Kuipers, Oscar P, Hamoen, Leendert W

“…Natural isolates of Bacillus subtilis are often difficult to transform due to their low genetic competence levels. Here we describe two methods that stimulate…”
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Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene by van Tintelen, J. Peter, MD, Tio, Rene A., MD, PhD, Kerstjens-Frederikse, Wilhelmina S., MD, van Berlo, Jop H., MD, Boven, Ludolf G., BSc, Suurmeijer, Albert J.H., MD, PhD, White, Stefan J., PhD, den Dunnen, Johan T., PhD, te Meerman, Gerard J., PhD, Vos, Yvonne J., MSc, van der Hout, Annemarie H., PhD, Osinga, Jan, van den Berg, Maarten P., MD, PhD, van Veldhuisen, Dirk J., MD, PhD, Buys, Charles H.C.M., PhD, Hofstra, Robert M.W., PhD, Pinto, Yigal M., MD, PhD

“…Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene J. Peter van Tintelen, Rene A. Tio, Wilhelmina S. Kerstjens-Frederikse, Jop…”
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SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics by Alimohamed, Mohamed Z., Boven, Ludolf G., van Dijk, Krista K., Vos, Yvonne J., Hoedemaekers, Yvonne M., van der Zwaag, Paul A., Sijmons, Rolf H., Jongbloed, Jan D.H., Sikkema-Raddatz, Birgit, Westers, Helga

“…•Compared to similar individually tested algorithms, SEPT–GD shows higher sensitivity (91%) and comparable specificity (88%) for both consensus and…”
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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants by Herkert, Johanna C., Verhagen, Judith M.A., Yotti, Raquel, Haghighi, Alireza, Phelan, Dean G., James, Paul A., Brown, Natasha J., Stutterd, Chloe, Macciocca, Ivan, Leong, Kai'En, Bulthuis, Marian L.C., van Bever, Yolande, van Slegtenhorst, Marjon A., Boven, Ludolf G., Roberts, Amy E., Agarwal, Radhika, Seidman, Jonathan, Lakdawala, Neal K., Fernández-Avilés, Francisco, Burke, Michael A., Pierpont, Mary Ella, Braunlin, Elizabeth, Ḉağlayan, Ahmet Okay, Barge-Schaapveld, Daniela Q.C.M., Birnie, Erwin, van Osch-Gevers, Lennie, van Langen, Irene M., Jongbloed, Jan D.H., Lockhart, Paul J., Amor, David J., Seidman, Christine E., van de Laar, Ingrid M.B.H.

“…Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined…”
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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients by Alimohamed, 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.

“…Next-generation sequencing (NGS) is increasingly used for clinical evaluation of cardiomyopathy patients as it allows for simultaneous screening of multiple…”
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Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy by Herkert, Johanna C, Abbott, Kristin M, Birnie, Erwin, Meems-Veldhuis, Martine T, Boven, Ludolf G, Benjamins, Marloes, du Marchie Sarvaas, Gideon J, 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

“…Purpose We evaluated the diagnostic yield in pediatric dilated cardiomyopathy (DCM) of combining exome sequencing (ES)-based targeted analysis and genome-wide…”
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The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes by Dorsch, Larissa M., Kuster, Diederik W.D., Jongbloed, Jan D.H., Boven, Ludolf G., van Spaendonck-Zwarts, Karin Y., Suurmeijer, Albert J.H., Vink, Aryan, du Marchie Sarvaas, Gideon J., van den Berg, Maarten P., van der Velden, Jolanda, Brundel, Bianca J.J.M., van der Zwaag, Paul A.

“…Background – Variants within the alpha-tropomyosin gene (TPM1) cause dominantly inherited cardiomyopathies, including dilated (DCM), hypertrophic (HCM) and…”
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Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy by Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H., Jongbloed, Jan D. H., Boven, Ludolf G., van den Berg, Maarten P., Pinto, Yigal M., Alastalo, Tero-Pekka, Myllykangas, Samuel, van Spaendonck-Zwarts, Karin, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability by Westra, Jantine L., Boven, Ludolf G., van der Vlies, Pieter, Faber, Hendrika, Sikkema, Birgit, Schaapveld, Michael, Dijkhuizen, Trijnie, Hollema, Harry, Buys, Charles H. C. M., Plukker, John T. M., Kok, Klaas, Hofstra, Robert M. W.

“…Chromosomal instability in colon tumors implies the presence of numerical and structural chromosome aberrations and is further characterized by the absence of…”
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Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of IMYBPC3/I Founder Variants by Jansen, Mark, Schuldt, Maike, van Driel, Beau O, Schmidt, Amand F, Christiaans, Imke, van der Crabben, Saskia N, Hoedemaekers, Yvonne M, Dooijes, Dennis, Jongbloed, Jan D. H, Boven, Ludolf G, Deprez, Ronald H. Lekanne, Wilde, Arthur A. M, Jans, Judith J. M, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J. Peter, Asselbergs, Folkert W, Baas, Annette F

“…Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of…”
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Novel Methods for Genetic Transformation of Natural Bacillus subtilis Isolates Used Regulation to Study the Regulation of the Mycosubtilin and Surfactin Synthetases[white triangle down], [dagger] by Duitman, Erwin H, Dobek Wyczawski, Boven, Ludolf G, Venema, Gerard

“…Natural isolates of Bacillus subtilis are often difficult to transform due to their low genetic competence levels. Here we describe two methods that stimulate…”
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Abstract 2726: Haplotype Sharing Test as a Tool to Map Genes for Familial Cardiomyopathy by Gerbens, Frans, van Tintelen, Peter, van der Zwaag, Paul A, Boven, Ludolf G, van der Smagt, Jasper J, Hauer, Richard N, Hofstra, Robert M, Meerman, Gerard J te

“…Abstract only Background: In Mendelian diseases, such as arrhythmogenic right ventricular and dilated cardiomyopathies (ARVC and DCM), chromosomal regions…”
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