2022: the year that was in the European Journal of Human Genetics
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01283-2.pdf
Reference42 articles.
1. Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, et al. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. Eur J Hum Genet. 2022;30:117–25. https://doi.org/10.1038/s41431-021-00913-x.
2. Adeyemo A, Faridi R, Chattaraj P, Yousaf R, Tona R, Okorie S, et al. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. Eur J Hum Genet. 2022;30:42–52. https://doi.org/10.1038/s41431-021-00984-w.
3. Klau J, Abou Jamra R, Radtke M, Oppermann H, Lemke JR, Beblo S, et al. Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders. Eur J Hum Genet. 2022;30:117–25. https://doi.org/10.1038/s41431-021-00981-z.
4. Stark Z, Ellard S. Rapid genomic testing for critically ill children: time to become standard of care? Eur J Hum Genet. 2022;30:142–9. https://doi.org/10.1038/s41431-021-00990-y.
5. Coutelier M, Holtgrewe M, Jäger M, Flöttman R, Mensah MA, Spielmann M, et al. Combining callers improves the detection of copy number variants from whole-genome sequencing. Eur J Hum Genet. 2022;30:178–86. https://doi.org/10.1038/s41431-021-00983-x.
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