Featured
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Viewpoint |
Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum
- Mohamed Zahir Alimohamed
- , Khuthala Mnika
- & Magdalena Mroczek
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Viewpoint
| Open AccessUptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia
- Dylan A. Mordaunt
- , Kim Dalziel
- & Zornitza Stark
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Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research
- Hadley Stevens Smith
- , Emily S. Bonkowski
- & Stacey Pereira
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Brief Communication
| Open AccessIs there a “pandemic effect” on individuals’ willingness to take genetic tests?
- Thibaud Deruelle
- , Veronika Kalouguina
- & Joël Wagner
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Review Article |
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases
- Noa Hurvitz
- , Henny Azmanov
- & Yaron Ilan
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Article
| Open AccessInternational transfers of personal data for health research following Schrems II: a problem in need of a solution
- Dara Hallinan
- , Alexander Bernier
- & Stéphanie Rennes
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Article
| Open AccessToward the diagnosis of rare childhood genetic diseases: what do parents value most?
- Samantha Pollard
- , Deirdre Weymann
- & Dean A. Regier
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Viewpoint
| Open AccessMoving somatic gene editing to the clinic: routes to market access and reimbursement in Europe
- Tessel Rigter
- , David Klein
- & Martina C. Cornel
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Article
| Open AccessEstimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
- Stéphanie Nguengang Wakap
- , Deborah M. Lambert
- & Ana Rath
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Article
| Open AccessDo health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease
- James Buchanan
- , Edward Blair
- & Sarah Wordsworth
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Trends in BRCA testing and socioeconomic deprivation
- Antony P. Martin
- , Gabriel Pedra
- & Kathryn Lynn Greenhalgh
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Article
| Open AccessPatient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment
- Deirdre Weymann
- , David L. Veenstra
- & Dean A. Regier
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Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study
- Patricia Marino
- , Rajae Touzani
- & Dominique Vaur
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Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?
- Wolf H Rogowski
- , Scott D Grosse
- & Georg Marckmann
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Article
| Open AccessRapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
- Jean Gekas
- , David-Gradus van den Berg
- & Daniel Reinharz