Journal of Community Genetics - The Best of Journal of Community Genetics 2021-2022
We are showcasing the top read and cited articles from Journal of Community Genetics from 2021 and 2022. This collection features both original articles and thought-provoking reviews. We hope you enjoy reading this collection.
Rare disease care pathways in the EU: from odysseys and labyrinths towards highways (this opens in a new tab)
Birute Tumiene & Holm Graessner
Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review (this opens in a new tab)
Ann F. Chou, Ashten R. Duncan, Gene Hallford, David M. Kelley & Lori Williamson Dean
European Reference Networks: challenges and opportunities (this opens in a new tab)
Birute Tumiene, Holm Graessner, Irene MJ Mathijssen, Alberto M Pereira, Franz Schaefer, Maurizio Scarpa, Jean-Yves Blay, Helene Dollfus & Nicoline Hoogerbrugge
Improving diagnostics of rare genetic diseases with NGS approaches (this opens in a new tab)
Mateja Vinkšel, Karin Writzl, Aleš Maver & Borut Peterlin
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland (this opens in a new tab)
Michael Abbott, Lynda McKenzie, Blanca Viridiana Guizar Moran, Sebastian Heidenreich, Rodolfo Hernández, Lynne Hocking-Mennie, Caroline Clark, Joana Gomes, Anne Lampe, David Baty, Ruth McGowan, Zosia Miedzybrodzka & Mandy Ryan
Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals (this opens in a new tab)
Bhavya Bhupen Vora, Helen Mountain, Cassandra Nichols & Lyn Schofield
A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing (this opens in a new tab)
Maria Siermann, Zoë Claesen, Laurent Pasquier, Taneli Raivio, Olga Tšuiko, Joris Robert Vermeesch & Pascal Borry
Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality (this opens in a new tab)
Norina Gasteiger, Amy Vercell, Alan Davies, Dawn Dowding, Naz Khan & Angela Davies
Mothers’ knowledge and attitudes about newborn screening in Jordan (this opens in a new tab)
Abedallah Kasem, Nadin M. Abdel Razeq, Sawsan Abuhammad & Haneen Alkhazali
Demographic and socioeconomic trends in DNA banking utilization in the USA (this opens in a new tab)
Joshua Prudent, Esthermarie Lopez, Donna Dorshorst, Hannah C. Cox & Joann N. Bodurtha