Zobrazeno 1 - 10
of 162
pro vyhledávání: '"Richard J. Sinke"'
Autor:
Miaozhen Huang, Esther A. R. Nibbeling, Tjerk J. Lagrand, Ivana A. Souza, Justus L. Groen, Maria A. Gandini, Fang-Xiong Zhang, Johannes H. T. M. Koelman, Noam Adir, Richard J. Sinke, Gerald W. Zamponi, Marina A. J. Tijssen, Dineke S. Verbeek
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-4 (2021)
Abstract 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 genetics in the pathology of task-specific focal dystonia. However, to date, no causal
Externí odkaz:
https://doaj.org/article/9d80058bd6de4772ad70e02928f455be
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:
Jeroen Bremer, Elisabeth H. van der Heijden, Daryll S. Eichhorn, Rowdy Meijer, Henny H. Lemmink, Hans Scheffer, Richard J. Sinke, Marcel F. Jonkman, Anna M.G. Pasmooij, Peter C. Van den Akker
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 18, Iss , Pp 465-475 (2019)
Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively. Recentl
Externí odkaz:
https://doaj.org/article/a5afe6acdf434eada2678f9c57426506
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
Autor:
Fleur Vansenne, Johanna M. Fock, Irene Stolte-Dijkstra, Linda C. Meiners, Marie-Jose H. van den Boogaard, Bregje Jaeger, Ludolf Boven, Yvonne J. Vos, Richard J. Sinke, Dineke S. Verbeek
Publikováno v:
European Journal of Paediatric Neurology, 41, 91-98. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 41, 91-98. W.B. Saunders Ltd
European journal of paediatric neurology : EJPN, 41, 91-98. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 41, 91-98. W.B. Saunders Ltd
European journal of paediatric neurology : EJPN, 41, 91-98. W.B. Saunders Ltd
Vici syndrome (OMIM 242840) is a very rare autosomal recessive multisystem disorder first described in 1988. In 2013, bi-allelic loss-of-function mutations in EPG5 were reported to cause Vici syndrome. Five principal diagnostic features of Vici syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5f2fe1d451508fe268f3eb1e9c42f5a
https://research.rug.nl/en/publications/0dc451ce-a839-4ccb-a9ea-a7b527eba443
https://research.rug.nl/en/publications/0dc451ce-a839-4ccb-a9ea-a7b527eba443
Autor:
Ivana A. Souza, Miaozhen Huang, Fang-Xiong Zhang, Richard J. Sinke, Tjerk J. Lagrand, Dineke S. Verbeek, Johannes H. T. M. Koelman, Marina A. J. Tijssen, Gerald W. Zamponi, Justus L. Groen, Maria A. Gandini, Noam Adir, Esther A. R. Nibbeling
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-4 (2021)
Molecular Brain
Molecular Brain, 14(1):18. BioMed Central Ltd.
Molecular brain, 14(1):18, 1-4. BMC
Molecular Brain, 14(1). BMC
Molecular Brain
Molecular Brain, 14(1):18. BioMed Central Ltd.
Molecular brain, 14(1):18, 1-4. BMC
Molecular Brain, 14(1). BMC
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 genetics in the pathology of task-specific focal dystonia. However, to date, no causal gene has
Autor:
K. Joeri van der Velde, Marielle E. van Gijn, Freerk van Dijk, Niek de Klein, Morris A. Swertz, Lude Franke, Richard J. Sinke, Zhenhua Zhang
Publikováno v:
Scientific Reports
Scientific Reports, 11(1):10606. Nature Publishing Group
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports, 11(1):10606. Nature Publishing Group
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Allele specific expression (ASE) concerns divergent expression quantity of alternative alleles and is measured by RNA sequencing. Multiple studies show that ASE plays a role in hereditary diseases by modulating penetrance or phenotype severity. Howev
Autor:
Bart Charbon, Ivo F.A.C. Fokkema, Ronald H. Lekanne Deprez, Jeroen F.J. Laros, Claudia A. L. Ruivenkamp, Bart de Koning, Richard J. Sinke, Morris A. Swertz, Gert Thijs, Quinten Waisfisz, Nienke Wieskamp, Rolph Pfundt, Marielle E. van Gijn, Johan T. den Dunnen, Isaac J. Nijman, Kristin M. Abbott, R. Moritz, Mariska Slofstra, Jasper J. Saris, Rubayte Rahman, Kasper Joeri van der Velde, Marinus J. Blok, Maartje J Vogel
Publikováno v:
Human Mutation, 40, 2230-2238
Fokkema, I F A C, van der Velde, K J, Slofstra, M K, Ruivenkamp, C A L, Vogel, M J, Pfundt, R, Blok, M J, Lekanne Deprez, R H, Waisfisz, Q, Abbott, K M, Sinke, R J, Rahman, R, Nijman, I J, de Koning, B, Thijs, G, Wieskamp, N, Moritz, R J G, Charbon, B, Saris, J J, den Dunnen, J T, Laros, J F J, Swertz, M A & van Gijn, M E 2019, ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ', Human Mutation, vol. 40, no. 12, pp. 2230-2238 . https://doi.org/10.1002/humu.23896
Human Mutation, 40(12), 2230-2238. Wiley
Human Mutation
Human Mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human Mutation, 40(12), 2230. Wiley-Liss Inc.
Human Mutation, 40(12), 2230-2238. WILEY
Human Mutation, 40, 12, pp. 2230-2238
Fokkema, I F A C, van der Velde, K J, Slofstra, M K, Ruivenkamp, C A L, Vogel, M J, Pfundt, R, Blok, M J, Lekanne Deprez, R H, Waisfisz, Q, Abbott, K M, Sinke, R J, Rahman, R, Nijman, I J, de Koning, B, Thijs, G, Wieskamp, N, Moritz, R J G, Charbon, B, Saris, J J, den Dunnen, J T, Laros, J F J, Swertz, M A & van Gijn, M E 2019, ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ', Human Mutation, vol. 40, no. 12, pp. 2230-2238 . https://doi.org/10.1002/humu.23896
Human Mutation, 40(12), 2230-2238. Wiley
Human Mutation
Human Mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human mutation, 40(12), 2230-2238. Wiley-Liss Inc.
Human Mutation, 40(12), 2230. Wiley-Liss Inc.
Human Mutation, 40(12), 2230-2238. WILEY
Human Mutation, 40, 12, pp. 2230-2238
Each year diagnostic laboratories in the Netherlands profile thousands of individuals for heritable disease using next‐generation sequencing (NGS). This requires pathogenicity classification of millions of DNA variants on the standard 5‐tier scal
Autor:
Rolf H. Sijmons, Paul A. van der Zwaag, Mohamed Z. Alimohamed, Jan D. H. Jongbloed, Helga Westers, Richard J. Sinke, Anna Posafalvi, Ludolf G. Boven, Krista K. van Dijk, Lisa Walters, Lennart Johansson, Birgit Sikkema-Raddatz, Yvonne M. Hoedemaekers, Yvonne J. Vos
Publikováno v:
International Journal of Cardiology, 332, pp. 99-104
International Journal of Cardiology, 332, 99-104
International Journal of Cardiology, 332, 99-104. ELSEVIER IRELAND LTD
International Journal of Cardiology, 332, 99-104
International Journal of Cardiology, 332, 99-104. ELSEVIER IRELAND LTD
Background: Next-generation sequencing (NGS) is increasingly used for clinical evaluation of cardiomyopathy patients as it allows for simultaneous screening of multiple cardiomyopathy-associated genes. Adding copy number variant (CNV) analysis of NGS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a0aa46f1b24d7ef4d72746604e3daf
Autor:
Bart Charbon, Aalt D. J. van Dijk, Richard J. Sinke, Wilhelmina S. Kerstjens-Frederikse, Dennis Hendriksen, Birgit Sikkema-Raddatz, Dick de Ridder, Patrick Deelen, Dimitrios Soudis, Cleo C. van Diemen, Morris A. Swertz, Kristin M. Abbott, Leslie R. Zwerwer, Shuang Li, Marielle E. van Gijn, K. Joeri van der Velde
Publikováno v:
Genome Medicine, 12(1)
Genome medicine, 12(1):75. BMC
Genome Medicine 12 (2020) 1
Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)
Genome Medicine
Genome medicine, 12(1):75. BMC
Genome Medicine 12 (2020) 1
Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)
Genome Medicine
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 classification
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::578a8ede32408a15bc991ad931c15155
https://research.wur.nl/en/publications/capice-a-computational-method-for-consequence-agnostic-pathogenic
https://research.wur.nl/en/publications/capice-a-computational-method-for-consequence-agnostic-pathogenic