Search Results - "Sikkema, Birgit"

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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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound by Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, Diemen, Cleo C.

“…Objective Conventional genetic tests (quantitative fluorescent‐PCR [QF‐PCR] and single nucleotide polymorphism‐array) only diagnose ~40% of fetuses showing…”
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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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Central 22q11.2 deletions by Rump, Patrick, de Leeuw, Nicole, van Essen, Anthonie J., Verschuuren-Bemelmans, Corien C., Veenstra-Knol, Hermine E., Swinkels, Mariëlle E.M., Oostdijk, Wilma, Ruivenkamp, Claudia, Reardon, Willie, de Munnik, Sonja, Ruiter, Mariken, Frumkin, Ayala, Lev, Dorit, Evers, Christina, Sikkema-Raddatz, Birgit, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M.

“…22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a deletion resulting from a recombination of low copy repeat…”
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Chromosomal mosaicism in human preimplantation embryos: a systematic review by van Echten-Arends, Jannie, Mastenbroek, Sebastiaan, Sikkema-Raddatz, Birgit, Korevaar, Johanna C, Heineman, Maas Jan, van der Veen, Fulco, Repping, Sjoerd

“…Although chromosomal mosaicism in human preimplantation embryos has been described for almost two decades, its exact prevalence is still unknown. The…”
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PB1701: REPLACING THE CURRENT METHODS IN LEUKEMIA DIAGNOSTICS WITH OPTICAL GENOME MAPPING AND CAS9‐DIRECTED NANOPORE SEQUENCING by Commandeur‐Jan, Sabrina, Berg‐ de Ruiter, Eva, Vroom, Vincent, Scheper, Arjen, Johansson, Lennart, Bosscher, Laura, Rietema, Nettie, Drok, Gineke, Sikkema‐Raddatz, Birgit, Knoers, Nine, Diemen, Cleo, Boer, Eddy

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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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Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics by de Boer, Eddy N., Vroom, Vincent, Scheper, Arjen J., Johansson, Lennart F., Bosscher, Laura, Rietema, Nettie, Commandeur-Jan, Sabrina Z., Knoers, Nine V. A. M., Sikkema-Raddatz, Birgit, van den Berg, Eva, van Diemen, Cleo C.

“…Leukemias are genetically heterogeneous and diagnostics therefore includes various standard-of-care (SOC) techniques, including karyotyping, SNP-array and…”
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A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature by Velde, K. Joeri, Hoek, Sander, Dijk, Freerk, Hendriksen, Dennis, Diemen, Cleo C., Johansson, Lennart F., Abbott, Kristin M., Deelen, Patrick, Sikkema‐Raddatz, Birgit, Swertz, Morris A.

“…Despite an explosive growth of next‐generation sequencing data, genome diagnostics only provides a molecular diagnosis to a minority of patients. Software…”
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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

“…Exome sequencing is now mainstream in clinical practice. However, identification of pathogenic Mendelian variants remains time-consuming, in part, because the…”
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Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study by Groot‐van der Mooren, Maurike, Graaf, Gert, Weijerman, Michel E, Hoffer, Mariette J. V, Knijnenburg, Jeroen, Kevie‐Kersemaekers, Anne‐Marie M. F, Kooper, Angelique J. A, Voorhoeve, Els, Sikkema‐Raddatz, Birgit, Zutven, Laura J. C. M, Srebniak, Malgorzata Ilona, Huijsdens‐van Amsterdam, Karin, Engelen, John J. M, Smeets, Dominique, Kaam, Anton H, Cornel, Martina C

“…Objective To evaluate if non‐invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands. Method Data from…”
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NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing by Johansson, Lennart F, de Weerd, Hendrik A, de Boer, Eddy N, van Dijk, Freerk, Te Meerman, Gerard J, Sijmons, Rolf H, Sikkema-Raddatz, Birgit, Swertz, Morris A

“…Various algorithms have been developed to predict fetal trisomies using cell-free DNA in non-invasive prenatal testing (NIPT). As basis for prediction, a…”
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Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics by Alimohamed, Mohamed Z, Westers, Helga, Vos, Yvonne J, Van der Velde, K Joeri, Sijmons, Rolf H, Van der Zwaag, Paul A, Sikkema-Raddatz, Birgit, Jongbloed, Jan D H

“…In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of…”
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Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance by Ghorbani, Fatemeh, Alimohamed, Mohamed Z, Vilacha, Juliana F, Van Dijk, Krista K, De Boer-Bergsma, Jelkje, Fokkens, Michiel R, Lemmink, Henny, Sijmons, Rolf H, Sikkema-Raddatz, Birgit, Groves, Matthew R, Verschuuren-Bemelmans, Corien C, Verbeek, Dineke S, Van Diemen, Cleo C, Westers, Helga

“…Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to…”
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Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome by WILLEMSEN, Marjolein H, FERNANDEZ, Bridget A, VAN BOKHOVEN, Hans, KLEEFSTRA, Tjitske, BACINO, Carlos A, GERKES, Erica, DE BROUWER, Arjan Pm, PFUNDT, Rolph, SIKKEMA-RADDATZ, Birgit, SCHERER, Stephen W, MARSHALL, Christian R, POTOCKI, Lorraine

“…The clinical use of array comparative genomic hybridization in the evaluation of patients with multiple congenital anomalies and/or mental retardation has…”
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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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Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent by Dondorp, Wybo, Sikkema-Raddatz, Birgit, de Die-Smulders, Christine, de Wert, Guido

“…The introduction of genome‐wide arrays in postnatal and prenatal diagnosis raises challenging ethical issues. Here, we explore questions with regard to the…”
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Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital by Imafidon, Miriam E, Sikkema-Raddatz, Birgit, Abbott, Kristin M, Meems-Veldhuis, Martine T, Swertz, Morris A, van der Velde, K Joeri, Beunders, Gea, Bos, Dennis K, Knoers, Nine V A M, Kerstjens-Frederikse, Wilhelmina S, van Diemen, Cleo C

“…Genetic disorders are a substantial cause of infant morbidity and mortality and are frequently suspected in neonatal intensive care units. Non-specific…”
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In Vitro Fertilization with Preimplantation Genetic Screening by Mastenbroek, Sebastiaan, Twisk, Moniek, van Echten-Arends, Jannie, Sikkema-Raddatz, Birgit, Korevaar, Johanna C, Verhoeve, Harold R, Vogel, Niels E.A, Arts, Eus G.J.M, de Vries, Jan W.A, Bossuyt, Patrick M, Buys, Charles H.C.M, Heineman, Maas Jan, Repping, Sjoerd, van der Veen, Fulco

“…It has been suggested that the use of preimplantation genetic screening of cleavage-stage embryos for aneuploidies may improve pregnancy rates in women of…”
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Genome-wide arrays in routine diagnostics of hematological malignancies by Simons, Annet, Sikkema-Raddatz, Birgit, de Leeuw, Nicole, Konrad, Nicole Claudia, Hastings, Rosalind J., Schoumans, Jacqueline

“…Over the last three decades, cytogenetic analysis of malignancies has become an integral part of disease evaluation and prediction of prognosis or…”
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