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 · 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

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

María Castellà, Roser Pujol, Elsa Callén et al. · Blood · 2011 · 136 citations

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

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 · 91 citations · Full text