Publicacións en colaboración con investigadores/as de Mount Sinai Hospital (2)

2024

  1. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

    Clinical chemistry, Vol. 70, Núm. 5, pp. 737-746

2017

  1. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

    Journal of Allergy and Clinical Immunology, Vol. 139, Núm. 4, pp. 1282-1292