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European Journal of Human Genetics : EJHG|September 4, 2026
Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing ProgramCiara S McNevin, Kate Murphy, Pierre Murchan, et al.
European Journal of Human Genetics : EJHG|July 18, 2026
Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, ItalyConcetta Aloi, Monica Traverso, Alessandro Salina, et al.
European Journal of Human Genetics : EJHG|September 18, 2026
Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screeningIsabella-Anna Lazaridi, Timothy Hall, Helen Hanson, et al.
European Journal of Human Genetics : EJHG|September 9, 2026
Appreciating diversity: a review of the Iranian genomic landscapeSomayeh Alinaghi, Farzane Zare Ashrafi, Zohreh Elahi, et al.
European Journal of Human Genetics : EJHG|September 15, 2026
Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failureAnjali Shah, Anchal Yadav, Merin George, et al.
European Journal of Human Genetics : EJHG|September 12, 2026
The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspectiveMaryam Vizheh, Samran Sheriff, Klay Lamprell, et al.
European Journal of Human Genetics : EJHG|September 28, 2026
Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes ProjectJana Jezkova, Martin A McClatchey, Sophie Shaw, et al.
European Journal of Human Genetics : EJHG|August 2, 2003
Genetic information and life insurance: a 'real' risk?Yann Joly, Bartha M Knoppers, Béatrice Godard
European Journal of Human Genetics : EJHG|August 2, 2003
Possible consequences of applying guidelines to healthy women with a family history of breast cancerC J van Asperen, R A E M Tollenaar, E M M Krol-Warmerdam, et al.
European Journal of Human Genetics : EJHG|June 10, 2022
Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American IndiansYunhua L Muller, Michael Saporito, Samantha Day, et al.
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