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 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 176 citations

Medicine, Cell Biology, Hematology +17

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 · 132 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

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 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

<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 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17