POT1 loss-of-function variants predispose to familial melanoma CD Robles-Espinoza, M Harland, AJ Ramsay, LG Aoude, V Quesada, ... Nature genetics 46 (5), 478-481, 2014 | 431 | 2014 |
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide S Walpole, AL Pritchard, CM Cebulla, R Pilarski, M Stautberg, ... JNCI: Journal of the National Cancer Institute 110 (12), 1328-1341, 2018 | 223 | 2018 |
Melanoma subtypes: genomic profiles, prognostic molecular markers and therapeutic possibilities R Rabbie, P Ferguson, C Molina‐Aguilar, DJ Adams, ... The Journal of pathology 247 (5), 539-551, 2019 | 215 | 2019 |
RSAT 2018: regulatory sequence analysis tools 20th anniversary NTT Nguyen, B Contreras-Moreira, JA Castro-Mondragon, ... Nucleic acids research 46 (W1), W209-W214, 2018 | 202 | 2018 |
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma LG Aoude, AL Pritchard, CD Robles-Espinoza, K Wadt, M Harland, J Choi, ... Journal of the National Cancer Institute 107 (2), dju408, 2015 | 195 | 2015 |
Melanoma: a global perspective R Ossio, R Roldan-Marin, H Martinez-Said, DJ Adams, ... Nature Reviews Cancer 17 (7), 393-394, 2017 | 149 | 2017 |
Germline MC1R status influences somatic mutation burden in melanoma CD Robles-Espinoza, ND Roberts, S Chen, FP Leacy, LB Alexandrov, ... Nature communications 7 (1), 12064, 2016 | 141 | 2016 |
Melanoma models for the next generation of therapies EE Patton, KL Mueller, DJ Adams, N Anandasabapathy, AE Aplin, ... Cancer cell 39 (5), 610-631, 2021 | 124 | 2021 |
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma K Wong, L van der Weyden, CR Schott, A Foote, F Constantino-Casas, ... Nature communications 10 (1), 353, 2019 | 120 | 2019 |
Acral lentiginous melanoma: Basic facts, biological characteristics and research perspectives of an understudied disease P Basurto‐Lozada, C Molina‐Aguilar, C Castaneda‐Garcia, ... Pigment cell & melanoma research 34 (1), 59-71, 2021 | 96 | 2021 |
Germline TERT promoter mutations are rare in familial melanoma M Harland, M Petljak, CD Robles-Espinoza, Z Ding, NA Gruis, ... Familial cancer 15, 139-144, 2016 | 77 | 2016 |
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma M Rashid, M van der Horst, T Mentzel, F Butera, I Ferreira, A Pance, ... Nature communications 10 (1), 2213, 2019 | 59 | 2019 |
Virtual meetings promise to eliminate geographical and administrative barriers and increase accessibility, diversity and inclusivity J Wu, A Rajesh, YN Huang, K Chhugani, R Acharya, K Peng, RD Johnson, ... Nature Biotechnology 40 (1), 133-137, 2022 | 58 | 2022 |
BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib M Ranzani, C Alifrangis, D Perna, K Dutton-Regester, A Pritchard, ... Pigment cell & melanoma research 28 (1), 117, 2015 | 58 | 2015 |
A population-based analysis of germline BAP1 mutations in melanoma SJ O’Shea, CD Robles-Espinoza, L McLellan, J Harrigan, X Jacq, ... Human molecular genetics 26 (4), 717-728, 2017 | 57 | 2017 |
Respiratory syncytial virus A genotype classification based on systematic intergenotypic and intragenotypic sequence analysis JC Muñoz-Escalante, A Comas-García, S Bernal-Silva, ... Scientific Reports 9 (1), 20097, 2019 | 47 | 2019 |
BRN2 suppresses apoptosis, reprograms DNA damage repair, and is associated with a high somatic mutation burden in melanoma K Herbert, R Binet, JP Lambert, P Louphrasitthiphol, H Kalkavan, ... Genes & development 33 (5-6), 310-332, 2019 | 43 | 2019 |
Telomere-regulating genes and the telomere interactome in familial cancers CD Robles-Espinoza, M del Castillo Velasco-Herrera, NK Hayward, ... Molecular cancer research 13 (2), 211-222, 2015 | 41 | 2015 |
Cake: a bioinformatics pipeline for the integrated analysis of somatic variants in cancer genomes M Rashid, CD Robles-Espinoza, AG Rust, DJ Adams Bioinformatics 29 (17), 2208-2210, 2013 | 41 | 2013 |
POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families M Potrony, JA Puig‐Butille, M Ribera‐Sola, V Iyer, CD Robles‐Espinoza, ... British Journal of Dermatology 181 (1), 105-113, 2019 | 40 | 2019 |