Chromatinopathies – from discovery to clinical diagnosis in the real world
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00439-024-02665-2.pdf
Reference12 articles.
1. Awamleh Z, Goodman S, Choufani S, Weksberg R (2023) DNA methylation signatures for chromatinopathies: current challenges and future applications. Hum Genet. Apr 6. https://doi.org/10.1007/s00439-023-02544-2. Epub ahead of print
2. Bryant L, Sangree A, Clark K, Bhoj E (2023 Mar) Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species. Hum Genet 3. https://doi.org/10.1007/s00439-023-02536-2Epub ahead of print
3. Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K, Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ (2024) A genomic mutational constraint map using variation in 76,156 human genomes. Nature 625(7993):92–100 Genome Aggregation Database Consortium; O’. https://doi.org/10.1038/s41586-023-06045-0
4. Cheng YHH, Bohaczuk SC, Stergachis AB (2024) Functional categorization of gene regulatory variants that cause mendelian conditions. Hum Genet
5. Gudmundsson S, Carlston CM, O’Donnell-Luria A Interpreting variants in genes affected by clonal hematopoiesis in population data. Hum Genet 2023 Feb 4:https://doi.org/10.1007/s00439-023-02526-4. doi: 10.1007/s00439-023-02526-4. Epub ahead of print.
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