Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Jasper J. Saris"'
Autor:
Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 337-348 (2020)
Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated vari
Externí odkaz:
https://doaj.org/article/e6495002c7f2473f996cb5f819b48be9
Autor:
Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M.A. van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L.T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J.M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen-Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham
Publikováno v:
American Journal of Human Genetics, 110(2), 251-272. Cell Press
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic diagnosis in NDDs. Transcriptome analysis (RNA sequencing [RNA-seq])
Autor:
Marcello Scala, Nathalie Drouot, Suzanna C. MacLennan, Marja W. Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A. de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S. Lipska‐Ziętkiewicz, Jasper J. Saris, Nicolas Charlet‐Berguerand, Federico Zara, Pasquale Striano, Amélie Piton
Publikováno v:
Human Mutation, 43(9), 1299-1313. Wiley-Liss Inc.
Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing factor, have b
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Autor:
Stephen P. Robertson, Joost van Schuppen, Ronald H. Lekanne Deprez, Marielle Alders, Marja W. Wessels, Lynne Rumping, Alex V. Postma, Marjon van Slegtenhorst, J. Peter van Tintelen, Saskia M. Maas, Jasper J. Saris
Publikováno v:
American journal of medical genetics. Part A, 185(12), 3814-3820. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 185(12), 3814-3820. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 185(12), 3814-3820. Wiley-Liss Inc.
Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X-linked filaminopathies caused by a variety of FLNA-variants. TODPD is characterized by skeletal defects, skin fibromata and dysmorphi
Autor:
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham
Publikováno v:
Human Mutation, 43(12), 2130-2140. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(12), 2130-2140. WILEY-HINDAWI
Human Mutation: Variation, Informatics and Disease, 43(12), 2130-2140. WILEY-HINDAWI
Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3d626b36d5a4ec4586b987251a1250
https://hdl.handle.net/1887/3563778
https://hdl.handle.net/1887/3563778
Autor:
Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M.A. van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L.T. van der Sterre, Farah Sadeghi Niaraki, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J.M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen-Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham
BackgroundFor neurodevelopmental disorders (NDD), a molecular diagnosis is key for predicting outcome, treatment and genetic counseling. Currently, in about half of NDD cases, routine DNA-based testing fails to establish a genetic diagnosis. Transcri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee2b82c8a4be21763479fc788e4621ed
https://doi.org/10.1101/2022.06.05.22275956
https://doi.org/10.1101/2022.06.05.22275956
Autor:
Silvy, Dekker, Carlijn G E, Thijssen, Denise Vd, Linde, Ingrid M B H, Vd Laar, Jasper J, Saris, Adriaan C G M, van Es, Pieter-Jan van, Doormaal, Paul, van Bronswijk, Fop, van Kooten, Jolien W, Roos-Hesselink
Publikováno v:
European Journal of Medical Genetics, 65(2):104424. Elsevier Masson
The aim of this article is to describe neurovascular findings in patients with Loeys Dietz syndrome type III and their possible clinical impact. Loeys Dietz syndrome type III, caused by pathogenic SMAD3 variants, is an autosomal dominant syndrome cha
Autor:
Alessandro Iuliano, Johanna M. P. Van den Hout, Stijn L.M. in 't Groen, Lies H. Hoefsloot, W.W.M. Pim Pijnappel, David Cassiman, Hannie Douben, Ans T. van der Ploeg, Atze J. Bergsma, Jasper J. Saris, Galhana M. Somers-Bolman, Miguel-Ángel Barba Romero, Douglas O. S. de Faria, Peter Witters, T. Dijkhuizen, Annelies de Klein
Publikováno v:
Molecular Therapy-Methods and Clinical Development, 17, 337-348. Cell Press
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 337-348 (2020)
Molecular therapy-Methods & clinical development, 17, 337-348. CELL PRESS
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 337-348 (2020)
Molecular therapy-Methods & clinical development, 17, 337-348. CELL PRESS
Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated vari
Autor:
Clara Sá Miranda, Lies H. Hoefsloot, Karin Naess, Galhana M. Somers-Bolman, Ineke Labrijn-Marks, Irene Mavridou, Trijnie Dijkhuizen, Jasper J. Saris, Marianne Hoogeveen-Westerveld, Ans T. van der Ploeg, Frans W. Verheijen, Olga Amaral, Sirpa Ala-Mello, Hannerieke J. M. P. van den Hout, Dicky J. Halley, Helen Michelakakis, Stijn L.M. in 't Groen, W.W.M. Pim Pijnappel, Marloes Benjamins, M. A. Kroos
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 27(6), 919-927. Nature Publishing Group
European Journal of Human Genetics, 27(6), 919-927. Nature Publishing Group
Collaboration from previous work institution. Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/30737479/ Analyses in our diagnostic DNA laboratory include genes involved in autosomal recessive (AR) lysosomal storage disorders such as
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