Author

Ana Marín‐Quilez

Observed names: A Marín Quílez, A Marín-Quilez, A Marín-Quílez, A. Marin Quilez, A. Marin-Quilez, A. Marín‐Quílez, Ana Marin-Quilez, Ana Marín Quilez, Ana Marín Quílez, Ana Marín-Quiles, Ana Marín-Quilez, Ana Marín-Quílez, Ana Marín‐Quílez, Ana Sánchez-Fuentes, Marin-Quílez A, Marín-Quílez A, Marín-Quílez, Ana

Institutions: Instituto de Salud Carlos III, Hospital General Universitario Morales Meseguer, Centre for Biomedical Network Research on Rare Diseases, Centro Regional de Hemodonación, Instituto Murciano de Investigación Biosanitaria, Universidad de Murcia

Observed institutions: Consejo Superior de Investigaciones Científicas, Universidad de Salamanca, Instituto de Salud Carlos III, Erasmus MC, Hospital General Universitario Morales Meseguer, Complejo Hospitalario de Salamanca, Sociedad Española de Trombosis y Hemostasia, Centre for Biomedical Network Research on Rare Diseases, Centro Regional de Hemodonación, Instituto de Investigación Biomédica de Salamanca, Centro de Investigación del Cáncer, Instituto Murciano de Investigación Biosanitaria, Instituto de Biología Molecular y Celular del Cáncer de Salamanca, Universidad de Murcia

ORCID: 0000-0002-2005-1919

Observed ORCID: 0000-0002-2005-1919

OpenAlex ID: A5081921887

Inherited Platelet Disorders: An Updated Overview

2021 · Verónica Palma-Barqueros, Nuria Revilla, et al. · International Journal of Molecular Sciences · 126

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

2019 · José María Bastida, Rocío Benito, et al. · Seminars in Thrombosis and Hemostasis · 55

Expanding the genetic spectrum of TUBB1 -related thrombocytopenia

2021 · Verónica Palma-Barqueros, Loredana Bury, et al. · Blood Advances · 47

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

2022 · Ana Marín-Quílez, Christian Andrea Di Buduo, et al. · Blood · 29

Platelet transcriptome analysis in patients with germline RUNX1 mutations

2023 · Verónica Palma-Barqueros, José María Bastida, et al. · Journal of Thrombosis and Haemostasis · 23

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

2019 · Jose María Bastida, Sara Morais, et al. · Annals of Medicine · 18

Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation

2023 · Ana Marín-Quílez, Lorena Díaz-Ajenjo, et al. · International Journal of Molecular Sciences · 17

Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease

2022 · Verónica Palma-Barqueros, Nuria Revilla, et al. · Blood Advances · 17

Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders

2023 · Ana Zamora-Cánovas, Belén de la Morena-Barrio, et al. · Journal of Thrombosis and Haemostasis · 15

A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

2022 · Ana Marín‐Quílez, Elena Vuelta, et al. · Journal of Thrombosis and Haemostasis · 15

Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk

2025 · Ana Marín‐Quílez, Ana Sánchez‐Fuentes, et al. · British Journal of Haematology · 9

GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

2023 · Ana Marín-Quílez, Christian A. Di Buduo, et al. · Platelets · 9

Effect of sarpogrelate treatment on 5-HT modulation of vascular sympathetic innervation and platelet activity in diabetic rats

2022 · Juan Francisco Fernández-González, José Ángel García-Pedraza, et al. · Biomedicine & Pharmacotherapy · 8

Characterization of the Platelet Phenotype Caused by a Germline RUNX1 Variant in a CRISPR/Cas9-Generated Murine Model

2021 · Ana Marín-Quílez, Ignacio García-Tuñón, et al. · Thrombosis and Haemostasis · 7

A novel genetic variant in PTGS1 affects N‐glycosylation of cyclooxygenase‐1 causing a dominant‐negative effect on platelet function and bleeding diathesis

2020 · Verónica Palma‐Barqueros, Marilena Crescente, et al. · American Journal of Hematology · 5

A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding

2025 · Lorena Díaz-Ajenjo, Ana Marín-Quílez, et al. · Journal of Thrombosis and Haemostasis · 3

Inherited Thrombocytopenias Predisposing to Hematologic Neoplasms. Experience of the Spanish Group for Inherited Platelet Disorders (GEAPC)

2023 · Jose Maria Bastida, Ana Marín-Quílez, et al. · Blood · 2

Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding

2025 · Ana Zamora-Cánovas, Ana Marín-Quílez, et al. · Biomolecules · 1

Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications

2018 · Jose Maria Bastida, Sara Morais, et al. · Blood · 1

Gene Therapy for Inherited Platelet Disorders

2026 · Paula M. Ojeda-Walzuk, Ana Marín-Quílez, et al. · Hematology/Oncology Clinics of North America

The hidden cost of RNA editing in megakaryopoiesis

2026 · José Rivera, Ana Marín-Quílez · Blood

OC 57.4 Integrated clinical, functional and molecular characterization of a novel SLFN14 variant causing inherited thrombocytopenia

2026 · Lorena Díaz-Ajenjo, Ana Lama-Villanueva, et al. · Research and Practice in Thrombosis and Haemostasis

PB3498 Sitosterolemia: the hidden face of congenital thrombocytopenia

2026 · Pablo García-Jaén, Ana Lama-Villanueva, et al. · Research and Practice in Thrombosis and Haemostasis

PB3516 Identification of Novel NBEAL2 Variants and Functional Characterisation of Grey Platelet Syndrome in Four Unrelated Pedigrees

2026 · Ana Zamora-Cánovas, Ana Sánchez-Fuentes, et al. · Research and Practice in Thrombosis and Haemostasis

OC 17.4 New Mechanistic Insights into GALE-Related Disease from Integrative Platelet Phenotyping and Cellular Modeling

2026 · Ana Marín-Quílez, Paula Ojeda-Walczuk, et al. · Research and Practice in Thrombosis and Haemostasis

Works count: 49

Citation count: 407

H-index: 10

I10-index: 10