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European Journal of Human Genetics : EJHG|December 3, 2021
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing lossChristel Vaché, David Baux, Julie Bianchi, et al.
European Journal of Human Genetics : EJHG|November 6, 2022
Genetic prediction of male pattern baldness based on large independent datasetsYan Chen, Pirro Hysi, Carlo Maj, et al.
European Journal of Human Genetics : EJHG|October 17, 2022
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general populationVictoria Smuk, Javier A López-Rivera, Costin Leu, et al.
European Journal of Human Genetics : EJHG|October 17, 2022
Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of strokeAndreea Ilinca, Andreas Puschmann, Jukka Putaala, et al.
European Journal of Human Genetics : EJHG|November 1, 2022
Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics SocietyAnna Middleton, Nicola Taverner, Catherine Houghton, et al.
European Journal of Human Genetics : EJHG|September 13, 2022
Societal implications of expanded universal carrier screening: a scoping reviewLieke M van den Heuvel, Nina van den Berg, A Cecile J W Janssens, et al.
European Journal of Human Genetics : EJHG|October 6, 2022
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder eventAnanthapadmanabha Kotambail, Pavalan Selvam, Karthik Muthusamy, et al.
European Journal of Human Genetics : EJHG|September 2, 2022
Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexateKarel H van der Pol, Marga Nijenhuis, Bianca Soree, et al.
European Journal of Human Genetics : EJHG|October 5, 2021
Cascade screening for beta-thalassaemia in Pakistan: relatives' experiences of a decision support intervention in routine practiceShenaz Ahmed, Hussain Jafri, Muhammed Faran, et al.
European Journal of Human Genetics : EJHG|January 28, 2022
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive developmentElisa Rahikkala, Lea Urpa, Bishwa Ghimire, et al.
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