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European Journal of Human Genetics : EJHG|February 16, 2023
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencingKatherine Dixon, Yaoqing Shen, Kieran O'Neill, et al.
European Journal of Human Genetics : EJHG|February 2, 2023
GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanksJoerg Geiger, Joerg Fuchs, Madeline Starke, et al.
European Journal of Human Genetics : EJHG|March 16, 2023
Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicismYasuhiko Asahina, Umi Tahara, Satomi Aoki, et al.
European Journal of Human Genetics : EJHG|March 16, 2023
Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021Henry C Wilmot, Gert de Graaf, Pieter van Casteren, et al.
European Journal of Human Genetics : EJHG|November 20, 2022
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eyeBertrand Chesneau, Véronique Ivashchenko, Christophe Habib, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
European Journal of Human Genetics : EJHG|November 27, 2025
KIF1A-associated neurological disorders: therapeutic opportunities and challengesQing Lin, Dylan Verden, John Christodoulou, et al.
European Journal of Human Genetics : EJHG|November 14, 2025
Brugada Syndrome: an exemplar for the genomic basis of sudden deathRebecca L M Griffiths, Roddy Walsh, Marta Futema, et al.
European Journal of Human Genetics : EJHG|December 24, 2025
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophyJohn Vissing, Ana Töpf, Volker Straub, et al.
European Journal of Human Genetics : EJHG|November 7, 2025
The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trialAndrada Ciucă, Tara Clancy, Sebastian Pintea, et al.
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