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Personalised Treatment For Cystic Fibrosis Patients With Ultra-rare CFTR Mutations (and beyond)

Deliverables

A suite of branded template material and a website

A suite of branded template material and a website for dissemination and public awareness of the HIT-CF project

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Publications

Responsible use of organoids in precision medicine: the need for active participant involvement

Author(s): Michael A. Lensink, Karin R. Jongsma, Sarah N. Boers, Jacquelien J. Noordhoek, Jeffrey M. Beekman, Annelien L. Bredenoord
Published in: Development, Issue 147/7, 2020, ISSN 0950-1991
DOI: 10.1242/dev.177972

Organoids for personalized treatment of Cystic Fibrosis: Professional perspectives on the ethics and governance of organoid biobanking

Author(s): Michael A. Lensink, Sarah N. Boers, Karin R. Jongsma, Sarah E. Carter, Cornelis K. van der Ent, Annelien L. Bredenoord
Published in: Journal of Cystic Fibrosis, Issue 20/3, 2021, Page(s) 443-451, ISSN 1569-1993
DOI: 10.1016/j.jcf.2020.11.015

Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G

Author(s): Iris A.L. Silva, Tereza Doušová, Sofia Ramalho, Raquel Centeio, Luka A. Clarke, Violeta Railean, Hugo M. Botelho, Andrea Holubová, Iveta Valášková, Jiunn-Tyng Yeh, Tzyh-Chang Hwang, Carlos M. Farinha, Karl Kunzelmann, Margarida D. Amaral
Published in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Issue 1866/11, 2020, Page(s) 165905, ISSN 0925-4439
DOI: 10.1016/j.bbadis.2020.165905

Intestinal organoids to model cystic fibrosis

Author(s): Peter van Mourik, Jeffrey M. Beekman, Cornelis K. van der Ent
Published in: European Respiratory Journal, Issue 54/1, 2019, Page(s) 1802379, ISSN 0903-1936
DOI: 10.1183/13993003.02379-2018

Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids

Author(s): Annelotte M. Vonk, Peter van Mourik, Anabela S. Ramalho, Iris A.L. Silva, Marvin Statia, Evelien Kruisselbrink, Sylvia W.F. Suen, Johanna F. Dekkers, Frank P. Vleggaar, Roderick H.J. Houwen, Jasper Mullenders, Sylvia F. Boj, Robert Vries, Margarida D. Amaral, Kris de Boeck, Cornelis K. van der Ent, Jeffrey M. Beekman
Published in: STAR Protocols, Issue 1/1, 2020, Page(s) 100019, ISSN 2666-1667
DOI: 10.1016/j.xpro.2020.100019

Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country

Author(s): Luiz Vicente Ribeiro Ferreira da Silva Filho, Paulo José Cauduro Maróstica, Rodrigo Abensur Athanazio, Francisco José Caldeira Reis, Neiva Damaceno, Angela Tavares Paes, Adilson Yuuji Hira, David Schlesinger, Fernando Kok, Margarida D. Amaral, Mara Lícia Machado Antunes, Lilian Cristina Ferreira Andries, Virginia Auxiliadora Freitas de Castro, Fabíola Villac Adde, Maria Fernanda Botelho Herna
Published in: Journal of Cystic Fibrosis, Issue 20/3, 2021, Page(s) 473-484, ISSN 1569-1993
DOI: 10.1016/j.jcf.2020.08.007

Rationale and design of the HIT-CF organoid study: stratifying cystic fibrosis patients based on intestinal organoid response to different CFTR-modulators

Author(s): Peter van Mourik, Sabine Michel, Annelotte M. Vonk, Jeffrey M. Beekman, Cornelis K. van der Ent, Hilde De Keyser, Elise Lammertyn, Silke van Koningsbruggen-Rietschel, Lutz Naehrlich, Judith Pool, Marc van de Craen, Begoña Aguilera, Johanna Pott, Rob G. J. Vries, Sylvia F. Boj, Kris De Boeck, François Vermeulen, Anabela S. Ramalho, Iris A. L. Silva, Margarida D. Amaral, Matthew Goddeeris, Geoffre
Published in: Translational Medicine Communications, Issue 5/1, 2020, ISSN 2396-832X
DOI: 10.1186/s41231-020-00060-3

Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids

Author(s): Iris A. L. Silva, Violeta Railean, Aires Duarte, Margarida D. Amaral
Published in: Journal of Personalized Medicine, Issue 11/5, 2021, Page(s) 421, ISSN 2075-4426
DOI: 10.3390/jpm11050421