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2020 2
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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.
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O; ENIGMA Consortium; Eon-Marchais S, Fostira F; GENESIS Study Collaborators; Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V; SWE-BRCA Group; Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P. Figlioli G, et al. Among authors: marcinkute r. 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.