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The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Cancers (Basel). 2020 Jan 26;12(2):292. doi: 10.3390/cancers12020292.
Cancers (Basel). 2020.
PMID: 31991861
Free PMC article.
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Smith M, Alexander E, Marcinkute R, Dan D, Rawson M, Banka S, Gavin J, Mina H, Hennessy C, Riccardi F, Radio FC, Havlovicova M, Cassina M, Emandi AC, Fradin M, Gompertz L, Nordgren A, Traberg R, Rossi M, Trimouille A, Sowmyalakshmi R, Dallapiccola B, Renieri A, Faivre L, Kerr B, Verloes A, Clayton-Smith J, Douzgou S; ERN ITHACA.
Smith M, et al. Among authors: marcinkute r.
Orphanet J Rare Dis. 2020 Apr 25;15(1):103. doi: 10.1186/s13023-020-1349-1.
Orphanet J Rare Dis. 2020.
PMID: 32334637
Free PMC article.
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The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.
Riccardi F, Marcinkute R, Azevedo Soares C, Calapod PS, Cerqueira JM, Avram E, Ding C; ESHG-Young committee.
Riccardi F, et al. Among authors: marcinkute r.
Eur J Hum Genet. 2022 Mar;30(3):252-255. doi: 10.1038/s41431-021-01019-0. Epub 2022 Jan 14.
Eur J Hum Genet. 2022.
PMID: 35027647
Free PMC article.
No abstract available.
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Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.
Marcinkute R, Woodward ER, Gandhi A, Howell S, Crosbie EJ, Wissely J, Harvey J, Highton L, Murphy J, Holland C, Edmondson R, Clayton R, Barr L, Harkness EF, Howell A, Lalloo F, Evans DG.
Marcinkute R, et al.
J Med Genet. 2022 Feb;59(2):133-140. doi: 10.1136/jmedgenet-2020-107356. Epub 2021 Feb 10.
J Med Genet. 2022.
PMID: 33568438
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Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole RL, Curry PDK, Marcinkute R, Brewer C, Coman D, Hobson E, Johnson D, Lynch SA, Saggar A, Searle C, Scurr I, Turnpenny PD, Vasudevan P, Tatton-Brown K.
Poole RL, et al. Among authors: marcinkute r.
Am J Med Genet A. 2021 Aug;185(8):2445-2454. doi: 10.1002/ajmg.a.62350. Epub 2021 May 25.
Am J Med Genet A. 2021.
PMID: 34032352
Review.
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