European Journal of Human Genetics @ejhg_journal
The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical and cytogenetics research nature.com/ejhg/ London, England Joined November 2018-
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Returning additional findings in the 100k Genomes Project benefits patients but poses practical and emotional challenges for NHS staff. Careful planning is essential before routine implementation. #Genomics #NHS #100kGenomes nature.com/articles/s4143…
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Reproductive carrier screening initially may cause anxiety and complex decisions, but most ultimately feel empowered. #EJHG #Genetics nature.com/articles/s4143…
European Journal of Human Genetics retweeted
Published in @ejhg_journal: 📊 DNAmethylation signatures support VUS reclassification and complement negative genetic tests. This approach boosts diagnostic yield in neurodevelopmental disorders, proving its clinical utility in routine diagnostics. ✅ nature.com/articles/s4143…
Predictive genetic tests don't just predict the future; they can change it. #PredictiveGenetics #Genomics #EJHG nature.com/articles/s4143…
The expanding spectrum of HSPB8-related disease shows the importance of HSPB8 genetic testing not only for neuropathy and myopathy, but also for cardiomyopathy. #neuropathy #cardiomyopathy #genetics #ejhg nature.com/articles/s4143…
DDX3X can cause a neurodevelopmental disorder in males. A new cohort of affected males broadens the spectrum. nature.com/articles/s4143…
The first report of hereditary spastic paraplegia caused by a COQ9 splicing variant expands the phenotypic spectrum of COQ9-related CoQ10 deficiency and suggests exogenous CoQ10 as a potential therapeutic option. nature.com/articles/s4143…
Clinical and molecular spectrum of CNOT3-related disorders with an in-depth characterisation of a large cohort. nature.com/articles/s4143…
European Journal of Human Genetics retweeted
It is online now! #Genetics #EJHG From neurodevelopmental & neuromuscular disorders to genomic medicine in practice, the August issue expands our understanding of rare diseases, diagnosis, treatment & ethics. @eshgsociety nature.com/ejhg/volumes/3…
European Journal of Human Genetics retweeted
We are calling for papers for a special issue of EJHG exploring the role of DNA in public health screening. We welcome: -Original research -Reviews -Commentaries Deadline: December 31st, 2025 Submit via: nature.com/collections/dj… @eshgsociety
The utility of next-generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa. @RareGenomicsRSA , @shahida_moosa nature.com/articles/s4143…
This review describes consumers' perspectives on primary care providers' roles in genomic medicine. @AIHI_MQ nature.com/articles/s4143…
ERCC1-hepatorenal syndrome is defined as a severe, multisystem DNA repair disorder associated with high morbidity and mortality, including an elevated cancer risk. @luijsterburglab nature.com/articles/s4143…
Findings stress the need for better PCP education, resources, and privacy measures to improve patient trust and integration of genomics in primary care.
Findings stress the need for better PCP education, resources, and privacy measures to improve patient trust and integration of genomics in primary care.
Finland is the first country to report biobank statistics at a national level. @AaroTupasela, @PitkKimmo, @JohannaMakel, @kallio_lila, @RaisaSerpi, @SSiltanen nature.com/articles/s4143…
A study of genetic effects on adverse events from antidepressants in the Estonian Biobank: CYP2C19 and polygenic risk scores. @ESTbiobank @MilaniLili @HannaKariis nature.com/articles/s4143…
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