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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y. Epub 2017 Jan 24.
Hum Genet. 2017.
PMID: 28120103
Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic J, Parenti I, Graul-Neumann L, Ruiz Gil S, Watrin E, Wendt KS, Werner R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ.
Pozojevic J, et al. Among authors: ruiz gil s.
Eur J Med Genet. 2018 Nov;61(11):680-684. doi: 10.1016/j.ejmg.2017.11.004. Epub 2017 Nov 15.
Eur J Med Genet. 2018.
PMID: 29155047
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Correction: ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution.
Royo R, Magnano L, Delgado J, Ruiz-Gil S, Gelpí JL, Heyn H, Taylor MA, Stankovic T, Puente XS, Nadeu F, Campo E.
Royo R, et al. Among authors: ruiz gil s.
Blood Cancer J. 2022 Dec 6;12(12):163. doi: 10.1038/s41408-022-00762-x.
Blood Cancer J. 2022.
PMID: 36470887
Free PMC article.
No abstract available.
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Detection of early seeding of Richter transformation in chronic lymphocytic leukemia.
Nadeu F, Royo R, Massoni-Badosa R, Playa-Albinyana H, Garcia-Torre B, Duran-Ferrer M, Dawson KJ, Kulis M, Diaz-Navarro A, Villamor N, Melero JL, Chapaprieta V, Dueso-Barroso A, Delgado J, Moia R, Ruiz-Gil S, Marchese D, Giró A, Verdaguer-Dot N, Romo M, Clot G, Rozman M, Frigola G, Rivas-Delgado A, Baumann T, Alcoceba M, González M, Climent F, Abrisqueta P, Castellví J, Bosch F, Aymerich M, Enjuanes A, Ruiz-Gaspà S, López-Guillermo A, Jares P, Beà S, Capella-Gutierrez S, Gelpí JL, López-Bigas N, Torrents D, Campbell PJ, Gut I, Rossi D, Gaidano G, Puente XS, Garcia-Roves PM, Colomer D, Heyn H, Maura F, Martín-Subero JI, Campo E.
Nadeu F, et al. Among authors: ruiz gil s.
Nat Med. 2022 Aug;28(8):1662-1671. doi: 10.1038/s41591-022-01927-8. Epub 2022 Aug 11.
Nat Med. 2022.
PMID: 35953718
Free PMC article.
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ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution.
Royo R, Magnano L, Delgado J, Ruiz-Gil S, Gelpí JL, Heyn H, Taylor MA, Stankovic T, Puente XS, Nadeu F, Campo E.
Royo R, et al. Among authors: ruiz gil s.
Blood Cancer J. 2022 Jun 7;12(6):90. doi: 10.1038/s41408-022-00686-6.
Blood Cancer J. 2022.
PMID: 35672297
Free PMC article.
No abstract available.
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