| Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia M Bogliolo, B Schuster, C Stoepker, B Derkunt, Y Su, A Raams, JP Trujillo, ... The American Journal of Human Genetics 92 (5), 800-806, 2013 | 373 | 2013 |
| Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics M Bogliolo, J Surralles Current opinion in genetics & development 33, 32-40, 2015 | 202 | 2015 |
| Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability M Bogliolo, A Lyakhovich, E Callén, M Castellà, E Cappelli, MJ Ramírez, ... The EMBO journal 26 (5), 1340-1351, 2007 | 174 | 2007 |
| Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia P Rio, S Navarro, W Wang, R Sanchez-Dominguez, RM Pujol, ... Nature medicine 25 (9), 1396-1401, 2019 | 139 | 2019 |
| FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor P Peterlongo, I Catucci, M Colombo, L Caleca, E Mucaki, M Bogliolo, ... Human molecular genetics 24 (18), 5345-5355, 2015 | 105 | 2015 |
| Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility I Catucci, A Osorio, B Arver, G Neidhardt, M Bogliolo, F Zanardi, M Riboni, ... Genetics in Medicine 20 (4), 452-457, 2018 | 84 | 2018 |
| Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia M Bogliolo, D Bluteau, J Lespinasse, R Pujol, N Vasquez, CD d'Enghien, ... Genetics in Medicine 20 (4), 458-463, 2018 | 82 | 2018 |
| Mutations in TOP3A cause a Bloom syndrome-like disorder CA Martin, CV Logan, RS Thakur, DA Parry, AH Bizard, A Leitch, L Cleal, ... The American Journal of Human Genetics 103 (2), 221-231, 2018 | 80 | 2018 |
| The Fanconi anaemia genome stability and tumour suppressor network M Bogliolo, O Cabre, E Callen, V Castillo, A Creus, R Marcos, J Surralles Mutagenesis 17 (6), 529-538, 2002 | 76 | 2002 |
| Rates of base excision repair are not solely dependent on levels of initiating enzymes E Cappelli, T Hazra, JW Hill, G Slupphaug, M Bogliolo, G Frosina Carcinogenesis 22 (3), 387-393, 2001 | 75 | 2001 |
| NHEJ-mediated repair of CRISPR-Cas9-induced DNA breaks efficiently corrects mutations in HSPCs from patients with fanconi anemia FJ Román-Rodríguez, L Ugalde, L Álvarez, B Díez, MJ Ramírez, ... Cell Stem Cell 25 (5), 607-621. e7, 2019 | 74 | 2019 |
| Detection of the4977 bp'mitochondrial DNA deletion in human atherosclerotic lesions M Bogliolo, A Izzotti, S De Flora, C Carli, A Abbondandolo, P Degan Mutagenesis 14 (1), 77-82, 1999 | 74 | 1999 |
| p53 is frequently mutated in Barrett's metaplasia of the intestinal type. P Campomenosi, M Conio, M Bogliolo, S Urbini, P Assereto, A Aprile, ... Cancer epidemiology, biomarkers & prevention: a publication of the American …, 1996 | 56 | 1996 |
| On the role of FAN1 in Fanconi anemia JP Trujillo, LB Mina, R Pujol, M Bogliolo, J Andrieux, M Holder, B Schuster, ... Blood, The Journal of the American Society of Hematology 120 (1), 86-89, 2012 | 50 | 2012 |
| From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia C Krausz, A Riera-Escamilla, C Chianese, D Moreno-Mendoza, E Ars, ... Genetics in Medicine 21 (1), 189-194, 2019 | 47 | 2019 |
| Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 G Hernández, MJ Ramírez, J Minguillón, P Quiles, G Ruiz de Garibay, ... Nature communications 9 (1), 967, 2018 | 41 | 2018 |
| Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles A Osorio, M Bogliolo, V Fernández, A Barroso, M De la Hoya, T Caldés, ... Human mutation 34 (12), 1615-1618, 2013 | 41 | 2013 |
| Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damage P Castillo, M Bogliolo, J Surralles DNA repair 10 (5), 518-525, 2011 | 35 | 2011 |
| The FANCM: p. Arg658* truncating variant is associated with risk of triple-negative breast cancer G Figlioli, M Bogliolo, I Catucci, L Caleca, SV Lasheras, R Pujol, JI Kiiski, ... NPJ breast cancer 5 (1), 1-14, 2019 | 32 | 2019 |
| Exploring the link between MORF4L1 and risk of breast cancer G Martrat, CA Maxwell, E Tominaga, M Porta-De-La-Riva, N Bonifaci, ... Breast cancer research 13, 1-14, 2011 | 32 | 2011 |
Jordi SurrallesDirector, Genetics Department, Hospital Sant PauVerified email at uab.es
