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European Journal of Human Genetics : EJHG|August 5, 2026
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome projectPrasun Dutta, Alistair T Pagnamenta, Christelle Robert, et al.
European Journal of Human Genetics : EJHG|June 23, 2026
BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implicationsAres Solanes-Cabús, Carmen Castillo-Manzano, Paula Rofes, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
European Journal of Human Genetics : EJHG|July 2, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individualsTimothy S Hall, Robin N Beaumont, James Fasham, et al.
European Journal of Human Genetics : EJHG|July 4, 2026
Parental and public views on genomic newborn screening: a systematic reviewRachael Sweetland, Fiona Ulph
European Journal of Human Genetics : EJHG|January 19, 2017
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndromeHeather Mason-Suares, Diana Toledo, Jean Gekas, et al.
European Journal of Human Genetics : EJHG|July 8, 2026
Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disordersNaeem Ahmad, Tooba Aleem, Chunyu Liu, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patientsSimona Zanotti, Francesca Magri, Sabrina Salani, et al.
European Journal of Human Genetics : EJHG|April 7, 2026
Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomaliesFabiola Ceroni, Linda M Reis, Fiona Watkins, et al.
European Journal of Human Genetics : EJHG|April 9, 2026
How variant discovery redefines genetic prevalence: the case of cystine stone diseaseChen-Han Wilfred Wu, Joshua Chang, Katreya Lovrenert, et al.
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