A new impact factor for EJHG in 2022
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01427-4.pdf
Reference11 articles.
1. Crellin E, Martyn M, Mcclaren B, Gaff C. What matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01376-y.
2. Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, et al. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01382-0.
3. Hedberg-Oldfors C, Mitra S, Molinaro A, Visuttijai K, Fogelstrand L, Oldfors A, et al. Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01327-7.
4. Haghshenas S, Foroutan A, Bhai P, Levy MA, Relator R, Kerkhof J, et al. Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01313-z.
5. Bouassida M, Egloff M, Levy J, Chatron N, Bernardini L, Le Guyader G, et al. 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01379-9.
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