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2022

  • Barbosa P, Ribeiro M, Carmo-Fonseca M and Fonseca A (2022). Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants. Front. Cardiovasc. Med. 9:975478. DOI: 10.3389/fcvm.2022.975478
  • Matos S, Bernardo P, Esteves S, Botelho de Sousa A, Lemos M, Ribeiro P, Silva M, Nunes A, Lobato J, Frade MdJ, da Silva MG, Chacim S, Mariz, J, Esteves G, Raposo J, Espadana A, Carda J, Barbosa P, Martins VCarmo-Fonseca M, Desterro J (2022). Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia. Cancers, 14, 3236. DOI: 10.3390/cancers14133236.
  • da Silva EM, Beca F, Sebastiao APM, Murray MP, Silveira C, Da Cruz Paula A, Pareja F, Wen HY, D’Alfonso TM, Edelweiss M, Weigelt B, Brogi E, Reis-Filho JS, Zhang H (2022). Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast. J Clin Pathol 75(2):133-136. DOI: 10.1136/jclinpath-2020-207062.

2021

  • Guo K, Shao C, Han L, Liu H, Ma Z, Yang Y, Feng Y, Pan M, Santarpia M, Carmo-Fonseca M, Silveira C, Lee KY, Han J, Li X, Yan X. (2021). Detection of epidermal growth factor receptor (EGFR) mutations from preoperative circulating tumor DNA (ctDNA) as a prognostic predictor for stage I-III non-small cell lung cancer (NSCLC) patients with baseline tissue EGFR mutations. Transl Lung Cancer Res 10(7):3213-3225. DOI: 10.21037/tlcr-21-530.
  • Silveira C, Sousa AC, Janeiro A, Malveiro S, Teixeira E, Brysch E, Pantarotto M, Felizardo M, Madureira R, Nogueira F, Guimarães C, Matos C, Canário D, Bruges-Armas J, Carmo-Fonseca M. (2021). Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR. Transl Lung Cancer Res 10(3):1200-1208. DOI: 10.21037/tlcr-20-1010.
  • Lopes Ribeiro A. and Sousa AC. (2021). Chapter 3 – Pathology and genetics in lung cancer diagnosis, 100 key questions en Lung Cancer – 3rd edition. Coordenation: Maria Teresa Almodôvar.
  • Antunes-Duarte S, Mendonça-Sanches M, Pimenta R, Coutinho AM, Silveira C, Soares-de-Almeida L, and Filipe P. (2021). Two Novel ATP2C1 Mutations in Portuguese Patients With Hailey-Hailey Disease. J Port Soc Dermatol Venereol 79(4): 373-376. DOI: 10.29021/spdv.79.4.1409.
  • Velasco A, Tokat F, Bonde J, Trim N, Bauer E, Meeney A, de Leng W, Chong G, Dalstein V, Kis LL, Lorentzen JA, Tomić S, Thwaites K, Putzová M, Birnbaum A, Qazi R, Primmer V, Dockhorn-Dworniczak B, Hernández-Losa J, Soares FA, Gertler AA, Kalman M, Wong C, Carraro DM, Sousa AC ,Reis RM, Fox SB, Fassan M, Brevet M, Merkelbach-Bruse S, Colling R, Soilleux E, Teo RYW, D’Haene N, Nolet S, Ristimäki A, Väisänen T, Chapusot C, Soruri A, Unger T, Wecgowiec J, Biscuola M, Frattini M, Long A, Campregher PV, Matias-Guiu X. (2021). Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer. Virchows Arch. 478(5):851-863. DOI: 10.1007/s00428-020-02962-x.
  • Silveira C, Sousa AC, Janeiro A, Malveiro S, Teixeira E, Brysch E, Pantarotto M, Felizardo M, Madureira R, Nogueira F, Guimarães C, Matos C, Canário D, Bruges-Armas J, Carmo-Fonseca M (2021). Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR. Transl Lung Cancer Res. 10(3):1200-1208. DOI: 10.21037/tlcr-20-1010.

2020

  • Kim SH, Da Cruz Paula A, Basili T, Dopeso H, Bi R, Pareja F, da Silva EM, Gularte-Mérida R, Sun Z, Fujisawa S, Smith CG, Ferrando L, Sebastiao APM, Bykov Y, Li A, Silveira C, Ashley CW, Stylianou A, Selenica P, Samore WR, Jungbluth AA, Zamarin D, Abu-Rustum NR, Helin K, Soslow RA, Reis-Filho JS, Oliva E, Weigelt B (2020). Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary. Nat Commun 11(1): 44. DOI: 10.1038/s41467-019-13806-x.
  • Gromicho M, Coutinho AM, Pronto-Laborinho AC, Raposeiro R, Tavares J, Antunes D, de Carvalho M (2020). Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE. J Neurol 267(12):3578-3592. DOI: 10.1007/s00415-020-10042-y.
  • Kidd K, Vylet’al P, Schaeffer C, Olinger E, Živná M, Hodaňová K, Robins V, Johnson E, Taylor A, Martin L, Izzi C, Jorge SC, Calado J, Torres RJ, Lhotta K, Steubl D, Gale DP, Gast C, Gombos E, Ainsworth HC, Chen YM, Almeida JR, de Souza CF, Silveira C, Raposeiro R, Weller N, Conlon PJ, Murray SL, Benson KA, Cavalleri GL, Votruba M, Vrbacká A, Amoroso A, Gianchino D, Caridi G, Ghiggeri G, Divers J, Scolari F, Devuyst O, Rampoldi L, Kmoch S and Bleyer AJ (2020). Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. Kidney Int Rep 5(9):1472-1485. DOI: 10.1016/j.ekir.2020.06.029.
  • Sousa AC, Silveira C, Janeiro A, Malveiro S, Oliveira AR, Felizardo M, Nogueira F, Teixeira E, Martins J, Carmo-Fonseca M (2020). Detection of rare and novel EGFR mutations in NSCLC patients: Implications for treatment-decision. Lung Cancer 139:35-40. DOI:10.1016/j.lungcan.2019.10.030.
  • Gomes AC, Barbosa PS, Coutinho A, Cruz I, Carmo-Fonseca M, Lopes LR (2020). Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy. Rev Port Cardiol (Engl Ed) 39(4):227.e1-227.e9. DOI: 10.1016/j.repc.2019.03.011.

2019

  • Silveira C, Triunfol M, Carmo-Fonseca M (2019). RNA Sequencing: A complementary tool kit for the diagnosis of Mendelian disorders. AACC Clinical Laboratory News.
  • Marchiò C, Da Cruz Paula A, Gularte-Mérida R, Basili T, Brandes A, da Silva EM, Silveira C, Ferrando L, Metovic J, Maletta F, Annaratone L, Pareja F, Rubin BP, Hoschar AP, De Rosa G, La Rosa S, Bongiovanni M, Purgina B, Piana S, Volante M, Weigelt B, Reis-Filho JS & Papotti M (2019). PAX8–GLIS3 gene fusion is a pathognomonic genetic alteration of hyalinizing trabecular tumors of the thyroid. Modern Pathology 32: 1734–1743. DOI: 10.1038/s41379-019-0313-x.
  • Sebastiao APM, Pareja F, Kumar R, Brown DN, Silveira C, da Silva EM, Lee JY, Katabi N, Chiosea S, Weigelt B, Reis-Filho JS, Seethala RR (2019). Genomic analysis of recurrences and high-grade forms of polymorphous adenocarcinomas. Histopathology 75: 193-201. DOI: 10.1111/his.13854.
  • Pareja F, Lee JY, Brown DN, Piscuoglio S, Gularte-Mérida R, Selenica P, Da Cruz Paula A, Arunachalam S, Kumar R, Geyer FC, Silveira C, da Silva EM, Li A, Marchiò C, Ng CKY, Mariani O, Fuhrmann L, Wen HY, Norton L, Vincent-Salomon A, Brogi E, Reis-Filho JS, Weigelt (2019). The genomic landscape of mucinous breast cancer. JNCI J Natl Cancer Inst 111(7): 737-741. DOI: 10.1093/jnci/djy216.
  • Cerveira N, Diamond J, Matos S, Amorim ML, Coucelo M, Bizarro S, Simões AT, Pierdomenico F, Lopes M, Ribeiro L, Carmo-Fonseca M, Guimarães JE, Almeida A, Teixeira AR (2019). Negative MR4.0 chronic myeloid leukemia and its implications for treatment-free remission. British Journal of Haematology 186(6): e181-e184. DOI: 10.1111/bjh.16058.
  • Gomes CF, Sousa AC, Branco F, Palmela C, Rolim I, Henriques AR, Oliveira MH, Borralho P, et al. (2019). Su1762 – Molecular Profiles in Colorectal Cancer. Gastroenterology 156(6): S-1450. DOI:10.1016/S0016-5085 (19)40684-7.