European Journal of Human Genetics - 2025

41 articles | Last updated: 2025-12-03 14:12:56

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Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis
Sociodemographic and health factors associated with genetic testing in Australia: insights from a cohort-based study of 45,061 participants
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementation
A genetic perspective on the recent demographic history of Ireland and Britain							✓	✓	Irish, British, Anglo-Norman, Scottish, Gallowglass, Ulster, Wexford, Orcadian, Manx, Welsh
Two for the heart: Dutch Pharmacogenetic Working Group prescribing guidance on statins and sulfonylureas to reduce cardiometabolic risk
Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023
Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants
Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases
Predictive testing for Huntington’s disease in a digital age; patient power with potential pitfalls
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice
Polycomb-associated and Trithorax-associated developmental conditions—phenotypic convergence and heterogeneity
Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders
A patient with TPCN2-related hypopigmentation and ocular phenotype
Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population
Artificial intelligence in clinical genetics
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations
Welcome to 2025 from EJHG
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I
Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model
Predicting the phenotype of Pompe Disease from features of GAA variants
Re-reply to Sabbagh et al.
UBR4 should no longer be considered a candidate gene for episodic ataxia type 8
Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes
Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families							✓	✓	Swedish; Sweden
Editorial: severity in a genomic age
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort							✓	✓	Black African; Native American; African populations
Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping review
C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN)
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice
Non-geneticist champions are essential to the mainstreaming of genomic medicine
Looking back at 2024 in the European Journal of Human Genetics
Towards a patient-centred classification of genetic disease severity