The complex genomics of single gene disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01386-w.pdf
Reference13 articles.
1. Flanigan KM, Waldrop MA, Martin PT, Alles R, Dunn DM, Alfano LN, et al. A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01329-5.
2. Di Rocco F, Rossi M, Verlut I, Szathmari A, Beuriat PA, Chatron N, et al. Clinical interest of molecular study in cases of isolated midline craniosynostosis. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01295-y.
3. Asahina Y, Tahara U, Aoki S, Nakabayashi K, Tateishi C, Hayashi D, et al. Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01316-w.
4. Li Q, Agrawal R, Schmitz-Abe K, Genetti CA, Fernandes MA, Fryou NL, et al. Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01291-2.
5. Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E, et al. CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01305-z.
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