Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Birgit Sikkema"'
Autor:
Eddy N. de Boer, Vincent Vroom, Arjen J. Scheper, Lennart F. Johansson, Laura Bosscher, Nettie Rietema, Sabrina Z. Commandeur-Jan, Nine V. A. M. Knoers, Birgit Sikkema-Raddatz, Eva van den Berg, Cleo C. van Diemen
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Leukemias are genetically heterogeneous and diagnostics therefore includes various standard-of-care (SOC) techniques, including karyotyping, SNP-array and FISH. Optical genome mapping (OGM) may replace these as it detects different types of
Externí odkaz:
https://doaj.org/article/9707ee3b98fc4b718c9354540985699f
Autor:
Sabrina Commandeur-Jan, Eva van den Berg- de Ruiter, Vincent Vroom, Arjen Scheper, Lennart Johansson, Laura Bosscher, Nettie Rietema, Gineke Drok, Birgit Sikkema-Raddatz, Nine Knoers, Cleo van Diemen, Eddy de Boer
Publikováno v:
HemaSphere, Vol 7, p e90907a4 (2023)
Externí odkaz:
https://doaj.org/article/7212a6dcb0a540909a610de0dc04b0f1
Autor:
Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom G. J. Hofste, Martine van Zweeden, Ronny C. Derks, Nico F. A. Leijsten, Martina H. A. Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de Sain-van der Velden, Els Voorhoeve, M. Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 20 (2024)
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS)
Externí odkaz:
https://doaj.org/article/693ce665f4784d2c83d6224c090b19b6
Autor:
Shuang Li, K. Joeri van der Velde, Dick de Ridder, Aalt D. J. van Dijk, Dimitrios Soudis, Leslie R. Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Marielle E. van Gijn, Kristin Abbott, Birgit Sikkema-Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens-Frederikse, Richard J. Sinke, Morris A. Swertz
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)
Abstract Exome sequencing is now mainstream in clinical practice. However, identification of pathogenic Mendelian variants remains time-consuming, in part, because the limited accuracy of current computational prediction methods requires manual class
Externí odkaz:
https://doaj.org/article/aa39ee356dcc409a882f0c4904055b68
Autor:
Mohamed Z. Alimohamed, Helga Westers, Yvonne J. Vos, K. Joeri Van der Velde, Rolf H. Sijmons, Paul A. Van der Zwaag, Birgit Sikkema-Raddatz, Jan D. H. Jongbloed
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation sequencing (NGS). Rec
Externí odkaz:
https://doaj.org/article/ad56929e4cb34a12b260f4de521ce77c
Autor:
Fatemeh Ghorbani, Mohamed Z. Alimohamed, Juliana F. Vilacha, Krista K. Van Dijk, Jelkje De Boer-Bergsma, Michiel R. Fokkens, Henny Lemmink, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Matthew R. Groves, Corien C. Verschuuren-Bemelmans, Dineke S. Verbeek, Cleo C. Van Diemen, Helga Westers
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to diagnosis, prognosis and risk assessment for patients and their family members. While advances
Externí odkaz:
https://doaj.org/article/e0ce2a4a56bf4a8db0790dfc9826b968
Autor:
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
A genetic diagnosis remains unattainable for many individuals with a rare disease because of incomplete knowledge about the genetic basis of many diseases. Here, the authors present the web-based tool GADO (GeneNetwork Assisted Diagnostic Optimizatio
Externí odkaz:
https://doaj.org/article/8256eeb26c5746a9a9e8d6dcd1fd68ae
Autor:
Miriam E. Imafidon, Birgit Sikkema-Raddatz, Kristin M. Abbott, Martine T. Meems-Veldhuis, Morris A. Swertz, K. Joeri van der Velde, Gea Beunders, Dennis K. Bos, Nine V. A. M. Knoers, Wilhelmina S. Kerstjens-Frederikse, Cleo C. van Diemen
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Genetic disorders are a substantial cause of infant morbidity and mortality and are frequently suspected in neonatal intensive care units. Non-specific clinical presentation or limitations to physical examination can result in a plethora
Externí odkaz:
https://doaj.org/article/e18003ef630a4ee7bf1ad4c5c1d66084
Autor:
K. Joeri van derVelde, Sander van denHoek, Freerk vanDijk, Dennis Hendriksen, Cleo C. vanDiemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema‐Raddatz, Morris A. Swertz
Publikováno v:
Advanced Genetics, Vol 1, Iss 1, Pp n/a-n/a (2020)
Abstract Despite an explosive growth of next‐generation sequencing data, genome diagnostics only provides a molecular diagnosis to a minority of patients. Software tools that prioritize genes based on patient symptoms using known gene‐disease ass
Externí odkaz:
https://doaj.org/article/b9a8c610f3244530ac14f9017f55d770
Autor:
Abigail Veldman, Mensiena B. G. Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R. Nelen, Richard J. Sinke, Birgit Sikkema-Raddatz, Els Voorhoeve, Dineke Westra, Martijn E. T. Dollé, Peter C. J. I. Schielen, Francjan J. van Spronsen
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 17 (2022)
Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (I
Externí odkaz:
https://doaj.org/article/0a81dc6ddb1e489aa423fa9769bfe43a