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European Journal of Human Genetics : EJHG|May 3, 2024
Biallelic loss of function variants in FUZ result in an orofaciodigital syndromeSwati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, et al.
European Journal of Human Genetics : EJHG|October 11, 2023
"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screeningElla Adi-Wauran, Marc Clausen, Salma Shickh, et al.
European Journal of Human Genetics : EJHG|September 26, 2023
A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart diseaseKristjan Norland, Daniel J Schaid, Iftikhar J Kullo
European Journal of Human Genetics : EJHG|October 3, 2023
Genomic medicine in neonatal care: progress and challengesAlissa M D'Gama, Pankaj B Agrawal
European Journal of Human Genetics : EJHG|October 11, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.
European Journal of Human Genetics : EJHG|June 5, 2023
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactionsJosefin Johansson, Sarah Lidéus, Carina Frykholm, et al.
European Journal of Human Genetics : EJHG|February 18, 2026
TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndromeCeren Damla Durmaz, Naz Güleray Lafcı, Dilsu Dicle Erkan, et al.
European Journal of Human Genetics : EJHG|February 25, 2026
Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndromeSarju G Mehta, Simon Holden, Judith Babar, et al.
European Journal of Human Genetics : EJHG|November 12, 2024
Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancerZoe Fehlberg, Louise Fisher, Cun Liu, et al.
European Journal of Human Genetics : EJHG|November 29, 2024
Evaluating an approach for communicating integrated risk scores for melanomaCourtney K Wallingford, Adam Mothershaw, Clare Primiero, et al.
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