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

London, England

nature.com/ejhg/

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European Journal of Human Genetics
@ejhg_journal
20h
New Special Issue of #EJHG: Hereditary Cancer Genetics Explore the latest research and perspectives on #HereditaryCancers, covering genomic testing, variant interpretation, polygenic risk scores, early cancer detection and more. nature.com/ejhg/volumes/3…
European Society of Human Genetics (ESHG)
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European Journal of Human Genetics
@ejhg_journal
Sep 11
Welcome to our #JournalClub this month! We are discussing: "CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders" from the August issue of #EJHG Read more: nature.com/articles/s4143… and share your thoughts!
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European Journal of Human Genetics
@ejhg_journal
Sep 1
As cancer genomic datasets continue to grow, meaningful patient and public involvement becomes important for ethical and trustworthy data governance. Read more on why #PPIE matters in governing cancer genomic data and supporting responsible data use:
nature.com
Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data...
European Journal of Human Genetics - Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care
European Journal of Human Genetics
@ejhg_journal
Aug 28
A negative exome doesn't always mean the end of the diagnostic journey! This study explores the added diagnostic value of Illumina Complete Long Reads (ICLR) and #OpticalGenomeMapping (OGM) in children with unexplained GDD/ID following WES.
Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric...
From nature.com
European Journal of Human Genetics
@ejhg_journal
Aug 26
EIF1AX: A novel gene for syndromic #NeurodevelopmentalDisorders De novo hemizygous variants in EIF1AX have been identified in males with neurodevelopmental disorders, brain abnormalities and distinctive clinical features.
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental...
From nature.com