Roser Pujol

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

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

María Castellà, Roser Pujol, Elsa Callén et al. · Blood · 2011 · 139 citations

Life Sciences, Genetics, Hematology +15

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

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, Ana Osório, Brita Arver et al. · Genetics in Medicine · 2017 · 93 citations · Full text

Life Sciences, Genetics, Hematology +15