Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Autor: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

Publikováno v: HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)

Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso

Externí odkaz: https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce

Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis

Autor: Richelle A.C.M. Olde Keizer, Abderrahim Marouane, A. Chantal Deden, Wendy A.G. van Zelst-Stams, Willem P. de Boode, Willem R. Keusters, Lidewij Henneman, Johannes Kristian Ploos van Amstel, Gerardus W.J. Frederix, Lisenka E.L.M. Vissers

Publikováno v: European Journal of Medical Genetics, 65(5):104467. Elsevier Masson SAS
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 5
Olde Keizer, R A C M, Marouane, A, Deden, A C, van Zelst-Stams, W A G, de Boode, W P, Keusters, W R, Henneman, L, van Amstel, J K P, Frederix, G W J & Vissers, L E L M 2022, ' Medical costs of children admitted to the neonatal intensive care unit : The role and possible economic impact of WES in early diagnosis ', European Journal of Medical Genetics, vol. 65, no. 5, 104467 . https://doi.org/10.1016/j.ejmg.2022.104467

It has been estimated that at least 6.0% of neonates admitted to the Neonatal Intensive Care Unit remains genetically undiagnosed because genetic testing is not routinely performed. The objective of this study is to provide an overview of average hea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49d43142464a4dcdc9ad4faa21d5e2b7
https://hdl.handle.net/2066/250182

Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors

Autor: Sandra J B Cornelissen, Monique Goossens, Hicham Ouchene, Marjolijn J. L. Ligtenberg, Ingrid P. Vogelaar, Michael Kwint, Nicoline Hoogerbrugge, Iris D. Nagtegaal, Arjen R. Mensenkamp, Wendy A.G. van Zelst–Stams

Publikováno v: Gastroenterology, 146, 3, pp. 643-646 e8
Gastroenterology, 146, 643-646 e8

Contains fulltext : 136846pub.pdf (Publisher’s version ) (Closed access) Lynch syndrome is caused by germline mutations in the mismatch repair (MMR) genes. Tumors are characterized by microsatellite instability (MSI). However, a considerable number

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc59e96d9d3b7033e6fae02ede4d5836
https://hdl.handle.net/2066/136846