Exome sequencing—one test to rule them all?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-022-01145-3.pdf
Reference8 articles.
1. Bourgon N, Garde A, Bruel AL, Lefebvre M, Mau-Them FT, Moutton S, et al. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? Eur J Hum Genet. 2022. https://doi.org/10.1038/s41431-022-01117-7
2. Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, et al. “Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant. Eur J Hum Genet. 2022. https://doi.org/10.1038/s41431-022-01111-z
3. Yanovsky-Dagan S, Cohen E, Megalli P, Altarescu G, Schonberger O, Eldar-Geva T, et al. DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00999-3
4. Chopra M, Caswell R, Barcia G, Rondeau S, Jonard L, Nitchké P, et al. Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. Eur J Hum Genet. 2022. https://doi.org/10.1038/s41431-022-01118-6
5. Breuer K, Riedhammer KM, Müller N, Schaidinger B, Dombrowsky G, Dittrich S, et al. Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes. Eur J Hum Genet. 2022. https://doi.org/10.1038/s41431-022-01100-2
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