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European Journal of Human Genetics : EJHG|January 24, 2018
Whole-sequence analysis indicates that the Y chromosome C2*-Star Cluster traces back to ordinary Mongols, rather than Genghis KhanLan-Hai Wei, Shi Yan, Yan Lu, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variantsClaudia Castiglioni, Fabiana Fattori, Bjarne Udd, et al.
European Journal of Human Genetics : EJHG|January 12, 2018
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder populationInge B Mathijssen, Kim C A Holtkamp, Cecile P E Ottenheim, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathyTomas Robyns, Cuno Kuiperi, Jeroen Breckpot, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin-utrophin double knockout miceBruno Ghirotto Nunes, Flávio Vieira Loures, Heloisa Maria Siqueira Bueno, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalitiesNara Sobreira, Martha Brucato, Li Zhang, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activityRafiullah Rafiullah, Alyssa B Long, Anna A Ivanova, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relativesMelissa B R Cullen, Bettina Meiser, Kristine Barlow-Stewart, et al.
European Journal of Human Genetics : EJHG|July 19, 2021
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?Larissa Peck, Kennedy Borle, Lasse Folkersen, et al.
European Journal of Human Genetics : EJHG|July 19, 2021
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learningNikita Kolosov, Mark J Daly, Mykyta Artomov
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