Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Year: 2024
Type: article
Study design: Observational Study
Source: Genetics in Medicine
Authors: Jennifer Kerkhof, Cassandra Rastin, Michael A. Levy, Raissa Relator, Haley McConkey, Leigh Demain, Elena Dominguez-Garrido, Laura Donker Kaat, Sofia Douzgou Houge, Barbara R. DuPont, Timothy Fee, Robin S. Fletcher, David Gokhale, Bjørn Ivar Haukanes, Peter Henneman, Sarah Hilton, Benjamin A. Hilton, Sarah Jenkinson, Jennifer A. Lee, Raymond J. Louie, M. Mahdi Motazacker, Jessica Rzasa, Roger E. Stevenson, Astrid Plomp, Liselot van der Laan, Jasper van der Smagt, Kellie K. Walden, Siddharth Banka, Marcel Mannens, Steven A. Skinner, Michael J. Friez, Christopher Campbell, Matthew L. Tedder, Marielle Alders, Bekim Sadikovic
Institutions: London Health Sciences Centre, Manchester University NHS Foundation Trust, Erasmus MC, Haukeland University Hospital, Greenwood Genetic Center, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam UMC Location University of Amsterdam, Utrecht University, University Medical Center Utrecht, University of Manchester, Western University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4391069658