Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

Autor: R. Koster, R. D. Brandão, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, K. B. M. Claes, A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V. van der Schoot, C. T. R. M. Stumpel, M. P. G. Broen, L. Spruijt, M. C. J. Jongmans, S. A. J. Lesnik Oberstein, A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk, K. W. J. Derks, H. G. Brunner, A. van den Wijngaard, M. van Geel, M. J. Blok

Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

Abstract Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing

Externí odkaz: https://doaj.org/article/982c0d93ba4e444ea8df66af21437691

Genome sequencing as a generic diagnostic strategy for rare disease

Autor: Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)

Abstract Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increase

Externí odkaz: https://doaj.org/article/74d1dac2ac704a6d872248d27edfaa77

Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV.

Autor: N Chantal Peltenburg, Jörgen Bierau, Jaap A Bakker, Jolanda A Schippers, Selwyn H Lowe, Aimée D C Paulussen, Bianca J C van den Bosch, Mathie P G Leers, Bettina E Hansen, Annelies Verbon

Publikováno v: PLoS ONE, Vol 13, Iss 1, p e0191069 (2018)

The purine analogues tenofovir and abacavir are precursors of potential substrates for the enzyme Inosine 5'-triphosphate pyrophosphohydrolase (ITPase). Here, we investigated the association of ITPase activity and ITPA genotype with the occurrence of

Externí odkaz: https://doaj.org/article/830f603febab47ee816ac4e1156ed1d3

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

Autor: Helger G. Yntema, Christine E. M. de Die-Smulders, Suzanne C E H Sallevelt, Alexander P.A. Stegmann, Han G. Brunner, Bart de Koning, Melanie van Esch, Crool Velter, Masoud Zamani Esteki, Anja Steyls, Arthur van den Wijngaard, Aimee D C Paulussen, Phillis Lakeman, Christian Gilissen

Publikováno v: Genetics in Medicine
Genetics in medicine, 23(6), 1125-1136. Lippincott Williams and Wilkins
Genetics in Medicine, 23(6), 1125-1136. Nature Publishing Group
Genetics in Medicine, 23, 6, pp. 1125-1136
Genetics in Medicine, 23, 1125-1136

Contains fulltext : 237150.pdf (Publisher’s version ) (Open Access) PURPOSE: Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a927a2a11ccba3be308c20e5c7dee9b8
http://www.scopus.com/inward/record.url?scp=85103014652&partnerID=8YFLogxK

Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

Autor: Karlien Mul, Marjolein Kriek, Baziel G.M. van Engelen, Saskia Lassche, Umesh A. Badrising, Nicol C. Voermans, Olivier W.H. van der Heijden, Nienke van der Stoep, Aimee D C Paulussen, Christine E. M. de Die-Smulders, Sanne C. C. Vincenten

Publikováno v: Clinical Genetics, 101, 149-160
Clinical Genetics, 101, 2, pp. 149-160
Clinical Genetics, 101(2), 149-160. WILEY

Contains fulltext : 248860.pdf (Publisher’s version ) (Open Access) Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30298dec965d8f350bb49e2ddaed70ea
http://hdl.handle.net/2066/248860