Ana Marin-Quilez, PhD

Postdoctoral researcher
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB, CIBERER-U765, Murcia, Spain
Murcia, Murcia, Spain

Ana Marin Quilez. PhD student at the University of Salamanca, Centro de Investigación del Cáncer - CSIC. IBSAL, Departamento de Hematología, Hospital Universitario de Salamanca. 37007, Salamanca, Spain.
Focus on the molecular and funcional characterization of novel genes and variants involved in congenital platelet disorders. Experience with whole-exome sequencing and in vitro and in vivo models.

Presentation(s):

• SSC 02.8 - Value of platelet transcriptome analysis for pathogenicity assessment of Runx1 germline variants

  Saturday, June 24, 2023
  15:30 – 15:40 ET

• PB0525 - Identification of an aberrant cell population in a knock-in murine model with RUNX1 variant generated by CRISPR/Cas9

  Monday, June 26, 2023
  18:30 – 19:30 ET

• OC 65.3 - LongRead Nanopore Sequencing reveal novel structural variants in ITGB3, HPS5 and HPS3, allowing genetic diagnosis of Glanzmann's Thrombasthenia and Hermansky-Pudlak Syndrome in four unrelated patients

  Tuesday, June 27, 2023
  15:15 – 15:30 ET