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European Journal of Human Genetics : EJHG|November 28, 2024
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese populationToshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, et al.
European Journal of Human Genetics : EJHG|November 26, 2024
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditionsLucinda Freeman, Alison D Archibald, Lisa Dive, et al.
European Journal of Human Genetics : EJHG|October 17, 2024
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tractEsra Kesdiren, Helge Martens, Frank Brand, et al.
European Journal of Human Genetics : EJHG|October 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsAngela Peron, Felice D'Arco, Kimberly A Aldinger, et al.
European Journal of Human Genetics : EJHG|October 24, 2024
Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screeningChanjuan Hao, Xuyun Hu, Ruolan Guo, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathyCarla Roma Oliveira, Alvaro Mendes, Liliana Sousa
European Journal of Human Genetics : EJHG|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortAlistair T Pagnamenta, James Fasham, Robin N Beaumont, et al.
European Journal of Human Genetics : EJHG|May 21, 2026
Towards responsible genome-wide screening: normative and stakeholder considerationsCorrette Ploem, Guido de Wert, Sara Soriano Longarón, et al.
European Journal of Human Genetics : EJHG|May 20, 2026
Missing … presumed well? Legal and ethical aspects of 'missed cases' in genomic newborn screeningAinsley J Newson, Robin Banks, Gabriel Watts, et al.
European Journal of Human Genetics : EJHG|May 18, 2026
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screeningJ Fasham, A McPhater, R Whittington, et al.
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