Roser M. Pujol

Barcelona, CT, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 28 publications

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: medRxiv : the preprint server for health sciences

Published: June 26, 2025

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Journal: Orphanet journal of rare diseases

Published: June 06, 2025

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: American journal of human genetics

Published: May 15, 2025

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

Journal: American journal of hematology

Published: July 24, 2024

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics

Published: May 03, 2024

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.

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.

Journal: Lancet (London, England)

Published: March 12, 2024

Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia.

Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia.

Journal: Haematologica

Published: November 16, 2022

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.

Journal: Cancers

Published: September 27, 2021

Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes.

Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes.

Journal: Molecular therapy. Methods & clinical development

Published: February 21, 2021

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

Journal: American journal of hematology

Published: February 17, 2021

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.

Journal: HemaSphere

Published: September 14, 2020

Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia.

Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia.

Journal: The Journal of clinical investigation

Published: August 18, 2020

Showing 1-12 of 28

Last Updated: 09/26/2026