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
Birute Tumiene & Holm Graessner
Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review
Ann F. Chou, Ashten R. Duncan, Gene Hallford, David M. Kelley & Lori Williamson Dean
European Reference Networks: challenges and opportunities
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
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
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
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
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
Norina Gasteiger, Amy Vercell, Alan Davies, Dawn Dowding, Naz Khan & Angela Davies
Mothers’ knowledge and attitudes about newborn screening in Jordan
Abedallah Kasem, Nadin M. Abdel Razeq, Sawsan Abuhammad & Haneen Alkhazali
Demographic and socioeconomic trends in DNA banking utilization in the USA
Joshua Prudent, Esthermarie Lopez, Donna Dorshorst, Hannah C. Cox & Joann N. Bodurtha