Genomic technologies identify milder presentations of Mendelian disease
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Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41431-024-01682-z.pdf
Reference14 articles.
1. Uguen K, Michaud JL, Génin E. Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01666-z.
2. Vishnu VY, Lemmers RJLF, Reyaz A, Mishra R, Ahmad T, Van Der Vliet PJ, et al. The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01577-z.
3. Fleming A, Galey M, Briggs L, Edwards M, Hogg C, John S, et al. Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01599-7.
4. Starosta RT, Jensen N, Couteranis S, Slaugh R, Easterlin D, Tate V, et al. Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01667-y.
5. Faye F, Crocione C, Anido De Peña R, Bellagambi S, Escati Peñaloza L, Hunter A, et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-024-01604-z.
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