Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. Bogliolo · SciRah

Researcher profile · Semantic Scholar

M. Bogliolo

Share profile

M. Bogliolo — researcher profile on SciRah

h-index: 23
Works: 51
Citations: 1,942

Most-cited papers

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
M. Bogliolo, Beatrice Schuster, C. Stoepker, Burak Derkunt +18 more
2013American Journal of Human Genetics331 citations Open access
Semantic Scholar
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics.
M. Bogliolo, J. Surrallés
2015Current Opinion in Genetics and Development180 citations Open access
Semantic Scholar
Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia
P. Río, S. Navarro, Wei Wang, R. Sánchez-Domínguez +33 more
2019Nature Medicine146 citations
Semantic Scholar
Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability
M. Bogliolo, A. Lyakhovich, E. Callen, M. Castellà +8 more
2007EMBO Journal140 citations Open access
Semantic Scholar
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
P. Peterlongo, Irene Catucci, M. Colombo, Laura Caleca +92 more
2015Human Molecular Genetics92 citations Open access
Semantic Scholar
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Irene Catucci, A. Osorio, B. Arver, Guido Neidhardt +24 more
2017Genetics in Medicine89 citations Open access
Semantic Scholar
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V. Logan, R. Thakur +47 more
2018American Journal of Human Genetics86 citations Open access
Semantic Scholar
Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia
M. Bogliolo, D. Bluteau, J. Lespinasse, R. Pujol +6 more
2017Genetics in Medicine80 citations Open access
Semantic Scholar
NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia.
F. Román-Rodríguez, Laura Ugalde, L. Álvarez, B. Díez +14 more
2019Cell Stem Cell79 citations Open access
Semantic Scholar
The Fanconi anaemia genome stability and tumour suppressor network.
M. Bogliolo, O. Cabré, E. Callen, V. Castillo +3 more
2002Mutagenesis61 citations
Semantic Scholar
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 +9 more
2018Genetics in Medicine53 citations Open access
Semantic Scholar
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
Gonzalo Hernandez, M. Ramírez, J. Minguillón, Paco Quiles +22 more
2018Nature Communications43 citations Open access
Semantic Scholar
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
G. Figlioli, M. Bogliolo, Irene Catucci, Laura Caleca +473 more
2019npj Breast Cancer41 citations Open access
Semantic Scholar
On the role of FAN1 in Fanconi anemia.
J. P. Trujillo, L. Mina, R. Pujol, M. Bogliolo +5 more
2012Blood41 citations
Semantic Scholar
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 +17 more
2013Human Mutation36 citations Open access
Semantic Scholar
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
M. Bogliolo, R. Pujol, M. Aza-Carmona, Núria Muñoz-Subirana +64 more
2019Journal of Medical Genetics32 citations
Semantic Scholar
The Fanconi Anemia/BRCA Pathway: FANCD2 at the Crossroad between Repair and Checkpoint Responses to DNA Damage
M. Bogliolo, J. Surrallés
200630 citations
Semantic Scholar
Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damage.
Paul Castillo, M. Bogliolo, J. Surrallés
2011DNA Repair29 citations
Semantic Scholar
Study on aneuploidy and p53 mutations in astrocytomas.
P. Campomenosi, L. Ottaggio, Francesca Moro, S. Urbini +15 more
1996Cancer Genetics and Cytogenetics27 citations
Semantic Scholar
Exploring the link between MORF4L1 and risk of breast cancer
Griselda Martrat, C. Maxwell, Emiko Tominaga, Montserrat Porta-de-la-Riva +130 more
2011Breast Cancer Research26 citations Open access
Semantic Scholar
3R coordination by Fanconi anemia proteins.
G. Mace, M. Bogliolo, J. Guervilly, Jean Antoine Dugas du Villard +1 more
2005Biochimie26 citations
Semantic Scholar
p53 Mutations and DNA Ploidy in Colorectal Adenocarcinomas
P. Campomenosi, Paola Assereto, M. Bogliolo, G. Fronza +9 more
1998Analytical Cellular Pathology26 citations Open access
Semantic Scholar
Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.
P. Río, Josune Zubicaray, S. Navarro, E. Gálvez +35 more
2024The Lancet24 citations
Semantic Scholar
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients
M. Ramírez, R. Pujol, J. P. Trujillo-Quintero, J. Minguillón +18 more
2021American journal of hematology/oncology23 citations Open access
Semantic Scholar
Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes
J. Sevilla, S. Navarro, P. Río, R. Sánchez-Domínguez +26 more
2021Molecular Therapy: Methods & Clinical Development23 citations Open access
Semantic Scholar
Alternative metabolic pathways for energy supply and resistance to apoptosis in Fanconi anaemia.
M. Bogliolo, S. Borghini, A. Abbondandolo, P. Degan
2002Mutagenesis23 citations
Semantic Scholar
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes
E. Gálvez, E. Vallespín, E. Arias-Salgado, Carmen Sanchez-Valdepeñas +21 more
2021HemaSphere20 citations Open access
Semantic Scholar
Reduced ligation during DNA base excision repair supported by BRCA2 mutant cells
M. Bogliolo, Richard M. Taylor, K. Caldecott, G. Fròsina
2000Oncogene20 citations
Semantic Scholar
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia
M. Ramírez, R. Pujol, J. Minguillón, M. Bogliolo +62 more
2024American journal of hematology/oncology15 citations Open access
Semantic Scholar
The FANC pathway is activated by adenovirus infection and promotes viral replication-dependent recombination
Gioia Cherubini, V. Naim, P. Caruso, Romina Burla +5 more
2011Nucleic Acids Research15 citations Open access
Semantic Scholar
Drosophila S3 ribosomal protein accelerates repair of 8‐oxoguanine performed by human and mouse cell extracts
E. Cappelli, A. D'Osualdo, M. Bogliolo, M. Kelley +1 more
2003Environmental and Molecular Mutagenesis14 citations
Semantic Scholar
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders
Maria Marín, M. Ramírez, M. A. Carmona, Nan Jia +3 more
2019Genes13 citations Open access
Semantic Scholar
Clinical consequences of BRCA2 hypomorphism
Laia Castells-Roca, S. Gutiérrez-Enríquez, S. Bonache, M. Bogliolo +14 more
2021npj Breast Cancer10 citations Open access
Semantic Scholar
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V. Logan, R. Thakur +47 more
2018American Journal of Human Genetics10 citations Open access
Semantic Scholar
FANCA Gene Mutations in North African Fanconi Anemia Patients
Abir Ben Haj Ali, O. Messaoud, S. Elouej, Faten Talmoudi +11 more
2021Frontiers in Genetics7 citations Open access
Semantic Scholar
Heterogeneous p53 mutations in a Burkitt lymphoma from an AIDS patient with monoclonal c‐myc and VDJ rearrangements
P. Campomenosi, G. Fronza, L. Ottaggio, S. Roncella +10 more
1997International Journal of Cancer6 citations Open access
Semantic Scholar
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival
J. Minguillón, M. Ramírez, Llorenç Rovirosa, P. Bustamante-Madrid +19 more
2022Cancers5 citations Open access
Semantic Scholar
Activation of the Fanconi anemia/BRCA pathway at low doses of ionization radiation.
Paul C. Bosch, M. Bogliolo, J. Surrallés
2015Mutation Research. Genetic Toxicology and Environmental Mutagenesis5 citations
Semantic Scholar
Effect of S. cerevisiae APN1 protein on mammalian DNA base excision repair.
M. Bogliolo, E. Cappelli, A. D'Osualdo, O. Rossi +3 more
2002Anticancer Research5 citations
Semantic Scholar
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation
I. Persico, Giorgia Fontana, M. Faleschini, M. E. Zanchetta +11 more
2023Frontiers in Genetics4 citations Open access
Semantic Scholar
Lack of mutations in K-ras codons 12 and 13 in human atherosclerotic lesions.
M. Bogliolo, G. Fronza, P. Campomenosi, Paola Assereto +4 more
1996Chemico-Biological Interactions4 citations
Semantic Scholar
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V. Logan, R. Thakur +48 more
2024American Journal of Human Genetics3 citations Open access
Semantic Scholar
Repair of 8 oxoguanine in mammalian cells expressing the Drosophila S3 ribosomal/repair protein.
E. Cappelli, A. D'Osualdo, M. Bogliolo, Yi Xu +2 more
2003Teratogenesis, carcinogenesis, and mutagenesis (Print)2 citations
Semantic Scholar
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
Eudald Tejero, María José Ramírez de Haro, R. Pujol, M. Bogliolo +2 more
2025Orphanet Journal of Rare Diseases1 citations Open access
Semantic Scholar
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
Gonzalo Hernandez, M. Ramírez, J. Minguillón, Paco Quiles +22 more
2018Nature Communications1 citations Open access
Semantic Scholar
Effect of S. cerevisiae APN1 protein on mammalian DNA base excision repair.
M. Bogliolo, E. Cappelli, A. D'Osualdo, O. Rossi +3 more
2002Anticancer Research1 citations
Semantic Scholar
NHEJ-Mediated Gene Editing, a Versatile Approach to Correct a Variety of Fanconi Anemia Genes in HSCs
F. Román-Rodríguez, Laura Ugalde, L. Álvarez, Begoña Díez-Cabezas +9 more
2019Blood0 citations Open access
Semantic Scholar
This is the accepted version of the article: Krausz, C. et al. From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia in Genetics in medicine (Ed. Nature
C. Krausz, A. Riera-Escamilla, C. Chianese, D. Moreno-Mendoza +9 more
20180 citations
Semantic Scholar
1 Mutations of the DNA repair endonuclease ERCC 4 / XPF cause Fanconi anemia
M. Bogliolo, Beatrice Schuster, C. Stoepker, Burak Derkunt +20 more
20150 citations
Semantic Scholar
The role of the Fanconi anemia pathway in sporadic head and neck cancer
M. Bogliolo, Beatrice Schuster, C. Stoepker, Burak Derkunt +18 more
0 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

J. Surrallés×37
Invite
J. Surrallés — researcher profile on SciRah
R. Pujol×25
Invite
R. Pujol — researcher profile on SciRah
M. Ramírez×13
Invite
M. Ramírez — researcher profile on SciRah
P. Río×12
Invite
P. Río — researcher profile on SciRah

×10

Invite

J. Benítez — researcher profile on SciRah

Invite

J. Bueren — researcher profile on SciRah

J. Minguillón×8

Invite

J. Minguillón — researcher profile on SciRah

Invite

J. Casado — researcher profile on SciRah

D. Schindler×7

Invite

D. Schindler — researcher profile on SciRah

Invite

J. Sevilla — researcher profile on SciRah

Invite

C. Lázaro — researcher profile on SciRah

M. Aza-Carmona×7

Invite

M. Aza-Carmona — researcher profile on SciRah