World's Best Scientists 2026 revealed!
Kathleen Freson

Kathleen Freson

D-Index & Metrics

Molecular Biology

D-Index
49
Citations
12193
World Ranking
2611
National Ranking
33

Overview

Kathleen Freson is affiliated with KU Leuven in Belgium, where their research primarily focuses on the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Their work extensively covers subfields such as Hematology, Genetics, Molecular Biology, Immunology, and Surgery.

The main topics of Kathleen Freson's research include:

  • Platelet Disorders and Treatments
  • Blood Coagulation and Thrombosis Mechanisms
  • Genomics and Rare Diseases
  • Blood Disorders and Treatments
  • Myeloproliferative Neoplasms: Diagnosis and Treatment
  • Coagulation, Bradykinin, Polyphosphates, and Angioedema
  • Genetic Associations and Epidemiology

Recent notable publications by Freson include:

  • "Glanzmann thrombasthenia: genetic basis and clinical correlates" (2020), published in Haematologica
  • "Genetic association analysis of 77,539 genomes reveals rare disease etiologies" (2023), published in Nature Medicine
  • "Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders" (2024), published in Nature Medicine
  • "Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome" (2020), published in Blood
  • "Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disorders" (2020), published in Journal of Thrombosis and Haemostasis

Kathleen Freson frequently publishes in the following venues:

  • Journal of Thrombosis and Haemostasis (16 publications)
  • Research and Practice in Thrombosis and Haemostasis (7 publications)
  • Blood (6 publications)
  • bioRxiv (Cold Spring Harbor Laboratory) (5 publications)
  • Haematologica (4 publications)

The scientist collaborates regularly with several researchers in the field. Frequent co-authors of Freson include:

  • Chantal Thys (17 coauthored works)
  • Ernest Turro (15 coauthored works)
  • Kate Downes (14 coauthored works)
  • Veerle Labarque (14 coauthored works)
  • Chris Van Geet (11 coauthored works)

Best Publications

  • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

    William J. Astle;Heather Elding;Heather Elding;Tao Jiang;Dave Allen

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • Whole-genome sequencing of patients with rare diseases in a national health system.

    E Turro;W J Astle;W J Astle;K Megy;S Gräf

  • Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

    Cornelis A. Albers;Cornelis A. Albers;Cornelis A. Albers;Dirk S. Paul;Harald Schulze;Kathleen Freson

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Transcriptional diversity during lineage commitment of human blood progenitors

    Lu Chen;Lu Chen;Lu Chen;Myrto Kostadima;Myrto Kostadima;Myrto Kostadima;Joost H. A. Martens;Giovanni Canu;Giovanni Canu

  • Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Giovanna Mantovani;Murat Bastepe;David Monk;Luisa de Sanctis

  • Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

    Kathleen Freson;Koenraad Devriendt;Gert Matthijs;Achilles Van Hoof

  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  • Review article: blood platelet number and function in chronic liver disease and cirrhosis.

    P. Witters;K. Freson;C. Verslype;K. Peerlinck

  • A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

    Ilenia Simeoni;Ilenia Simeoni;Jonathan C. Stephens;Jonathan C. Stephens;Fengyuan Hu;Fengyuan Hu;Sri V V Deevi;Sri V V Deevi

  • Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.

    Kathleen Freson;Gert Matthijs;Chantal Thys;Paul Mariën

  • Maternal intake of methyl-group donors affects DNA methylation of metabolic genes in infants.

    Sara Pauwels;Sara Pauwels;Manosij Ghosh;Radu Corneliu Duca;Bram Bekaert

  • Inherited platelet disorders.

    A T Nurden;Kathleen Freson;U Seligsohn

  • Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

    Kate Downes;Karyn Megy;Karyn Megy;Daniel Duarte;Daniel Duarte;Minka Vries

  • A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

    Simon Stritt;Paquita Nurden;Ernest Turro;Daniel Greene;Daniel Greene

  • Inherited platelet disorders: toward DNA-based diagnosis

    Claire Lentaigne;Claire Lentaigne;Kathleen Freson;Michael A. Laffan;Michael A. Laffan;Ernest Turro

  • Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

    Sarah K Westbury;Ernest Turro;Ernest Turro;Daniel Greene;Daniel Greene;Claire Lentaigne;Claire Lentaigne

  • Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

    Charaka Hadinnapola;Marta Bleda;Matthias Haimel;Nicholas Screaton

Frequent Co-Authors

Willem H. Ouwehand
Willem H. Ouwehand University of Cambridge
Michael Laffan
Michael Laffan Imperial College London
Jonathan Stephens
Jonathan Stephens University of Cambridge
Rémi Favier
Rémi Favier University of Paris-Saclay
Jaak Jaeken
Jaak Jaeken KU Leuven
Luigi Grassi
Luigi Grassi University of Ferrara
Sylvia Richardson
Sylvia Richardson University of Cambridge

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

If you’re interested in Molecular Biology but want to explore practical, health-focused career options, there are several online degree pathways worth considering. Many students transition to healthcare roles through accelerated programs that don’t require a prior nursing background. For example, online accelerated nursing programs for non nurses offer a fast-track into the nursing field for those with a science background.

Programs such as the 6-month rn to bsn program are designed for students who want to efficiently advance their qualifications and broaden their job prospects. If you are planning a long-term career in advanced practice, you may wonder how many years does it take to be a nurse practitioner; this can vary from two to six years depending on your entry point.

Additionally, specialized roles such as Psychiatric Mental Health Nurse Practitioners are in high demand, and you can discover more about compensation with this guide on dnp pmhnp salary by state.

Best Scientists Citing Kathleen Freson

Trending Scientists

Recently Published Articles