Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type L Witkowski, J Carrot-Zhang, S Albrecht, S Fahiminiya, N Hamel, ... Nature genetics 46 (5), 438-443, 2014 | 452 | 2014 |
Germline RECQL mutations are associated with breast cancer susceptibility C Cybulski, J Carrot-Zhang, W Kluźniak, B Rivera, A Kashyap, ... Nature genetics 47 (6), 643-646, 2015 | 210 | 2015 |
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors B Rivera, T Gayden, J Carrot-Zhang, J Nadaf, T Boshari, D Faury, ... Acta neuropathologica 131, 847-863, 2016 | 168 | 2016 |
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families O Calvete, P Martinez, P Garcia-Pavia, C Benitez-Buelga, ... Nature communications 6 (1), 8383, 2015 | 158 | 2015 |
Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype JE Grolleman, RM De Voer, FA Elsayed, M Nielsen, RDA Weren, C Palles, ... Cancer cell 35 (2), 256-266. e5, 2019 | 154 | 2019 |
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D X Yang, H Song, G Leslie, C Engel, E Hahnen, B Auber, J Horváth, K Kast, ... JNCI: Journal of the National Cancer Institute 112 (12), 1242-1250, 2020 | 137 | 2020 |
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations RD Chernock, B Rivera, N Borrelli, DA Hill, S Fahiminiya, T Shah, ... Modern Pathology 33 (7), 1264-1274, 2020 | 106 | 2020 |
Biallelic NTHL1 mutations in a woman with multiple primary tumors B Rivera, E Castellsagué, I Bah New England Journal of Medicine 500, 70s, 2015 | 102 | 2015 |
Age at onset should be a major criterion for subclassification of colorectal cancer J Perea, D Rueda, A Canal, Y Rodríguez, E Álvaro, I Osorio, C Alegre, ... The Journal of Molecular Diagnostics 16 (1), 116-126, 2014 | 84 | 2014 |
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome L de Kock, YC Wang, T Revil, D Badescu, B Rivera, N Sabbaghian, M Wu, ... Journal of medical genetics 53 (1), 43-52, 2016 | 76 | 2016 |
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw CC Gomes, T Gayden, A Bajic, OF Harraz, J Pratt, H Nikbakht, E Bareke, ... Nature communications 9 (1), 4572, 2018 | 72 | 2018 |
Approach to early-onset colorectal cancer: clinicopathological, familial, molecular and immunohistochemical characteristics J Perea, E Alvaro, Y Rodríguez, C Gravalos, E Sánchez-Tomé, B Rivera, ... World journal of gastroenterology: WJG 16 (29), 3697, 2010 | 65 | 2010 |
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study B Rivera, S González, E Sánchez-Tomé, I Blanco, F Mercadillo, R Letón, ... Annals of oncology 22 (4), 903-909, 2011 | 56 | 2011 |
A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia B Rivera, J Perea, E Sánchez, M Villapún, E Sánchez-Tomé, F Mercadillo, ... European Journal of Human Genetics 22 (3), 423-426, 2014 | 52 | 2014 |
Homologous recombination DNA repair defects in PALB2-associated breast cancers A Li, FC Geyer, P Blecua, JY Lee, P Selenica, DN Brown, F Pareja, ... NPJ breast cancer 5 (1), 23, 2019 | 51 | 2019 |
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma B Rivera, M Di Iorio, J Frankum, J Nadaf, S Fahiminiya, SL Arcand, ... Cancer research 77 (16), 4517-4529, 2017 | 42 | 2017 |
Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion L de Kock, D Geoffrion, B Rivera, R Wagener, N Sabbaghian, S Bens, ... Genes, Chromosomes and Cancer 57 (5), 223-230, 2018 | 37 | 2018 |
Ovarian microcystic stromal tumors are characterized by alterations in the beta-catenin-APC pathway and may be an extracolonic manifestation of familial adenomatous polyposis WG McCluggage, JA Irving, AS Chong, BA Clarke, RH Young, ... The American Journal of Surgical Pathology 42 (1), 137-139, 2018 | 37 | 2018 |
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis B Rivera, J Nadaf, S Fahiminiya, M Apellaniz-Ruiz, A Saskin, AS Chong, ... The Journal of clinical investigation 130 (3), 1479-1490, 2020 | 35 | 2020 |
The genetic landscape of choroid plexus tumors in children and adults C Thomas, P Soschinski, M Zwaig, S Oikonomopoulos, K Okonechnikov, ... Neuro-oncology 23 (4), 650-660, 2021 | 33 | 2021 |