What’s new in EJHG in June 2024?
Author:
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41431-024-01630-x.pdf
Reference13 articles.
1. Van Pottelberghe S, Kupper N, Scheirlynck E, Amin AS, Wilde AAM, Hofman N, et al. Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01510-w.
2. Topriceanu C-C, Chaturvedi N, Mathur R, Garfield V. Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-023-01517-3.
3. Pearson M, Mcgowan R, Greene P, Lam W, Miedzybrodzka Z, Berg J. Outcomes of patients with juvenile polyposis-hereditary haemorrhagic telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01607-w.
4. D'incal CP, Annear DJ, Elinck E, Van Der Smagt JJ, Alders M, Dingemans AJM, et al. Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01556-4.
5. Caraffi SG, Van Der Laan L, Rooney K, Trajkova S, Zuntini R, Relator R, et al. Identification of the DNA methylation signature of Mowat-Wilson syndrome. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01548-4.
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