Massimo Bogliolo

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Massimo Bogliolo, Beatrice Schuster, Chantal Stoepker et al. · The American Journal of Human Genetics · 2013 · 303 citations · Full text

Genome Instability, Genetic Disorder, Genetics +6

Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia

Susana Navarro, Wei Wang, Rebeca Sánchez‐Domínguez et al. · Nature Medicine · 2019 · 170 citations

Fanconi Anemia, Cell Therapy, Non-conditioned Patients +11

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability

Massimo Bogliolo, Alex Lyakhovich, Elsa Callén et al. · The EMBO Journal · 2007 · 131 citations · Full text

Chromatin, Chromosome Stability, Chromatin Remodeling +11

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Carol-Anne Martin, Kata Sarlós, Clare V. Logan et al. · The American Journal of Human Genetics · 2018 · 94 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

<i>FANCM</i>c.5791C&gt;T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Paolo Peterlongo, Irene Catucci, Mara Colombo et al. · Human Molecular Genetics · 2015 · 93 citations · Full text