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European Journal of Human Genetics : EJHG|May 19, 2026
Patients offered genomic testing for rare disease and cancer: a real-world evaluation of impact and processes of careMelissa Martyn, Ling Lee, Emily Forbes, et al.
European Journal of Human Genetics : EJHG|May 14, 2026
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome referencesChiara Folland, Gavin Monahan, James Breen, et al.
European Journal of Human Genetics : EJHG|March 1, 2026
A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profilingHikaru Nakahara, Hiroaki Niitsu, Asuka Toshida, et al.
European Journal of Human Genetics : EJHG|March 11, 2026
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYRMuhammad Farooq, Gitte Hoffmann Bruun, Menachem V K Sarusie, et al.
European Journal of Human Genetics : EJHG|March 11, 2026
Cultural, ethical, legal, and social considerations in genomics research with Indigenous Peoples: A scoping reviewRubi-Jayne Cohen, Rebekah McWhirter, Lyndsay Newett, et al.
European Journal of Human Genetics : EJHG|March 14, 2026
Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm populationMark K Bakker, Phebe J Groenheide, Iris N Vos, et al.
European Journal of Human Genetics : EJHG|June 3, 2026
Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch SyndromeLise Graversen, Jannie Assenholt, Inge Søkilde Pedersen, et al.
European Journal of Human Genetics : EJHG|June 3, 2026
Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencingHadley Stevens Smith, Martin Vu, Tamara Dangouloff, et al.
European Journal of Human Genetics : EJHG|June 3, 2026
Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patientsJoe Davis Velchev, Alice Krebsová, Pavel Votýpka, et al.
European Journal of Human Genetics : EJHG|August 27, 2015
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARXChing Moey, Scott Topper, Mary Karn, et al.
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