Kathleen Freson

发表

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

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

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

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

Jurgen Del-Favero, Kathleen Freson, Peter De Rijk, 2010, Human molecular genetics.

Severe Gastrointestinal Bleeding and Thrombocytopenia in a Child With an Anti-GATA1 Autoantibody

Chantal Thys, Kathleen Freson, R. Vos, 2010, Pediatric Research.

Allele-specific DNA methylation reinforces PEAR1 enhancer activity.

Diether Lambrechts, Catherine Verfaillie, Kathleen Freson, 2016, Blood.

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer

Marloes R. Tijssen, Chantal Thys, Kathleen Freson, 2017, Haematologica.

GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.

Chantal Thys, Kathleen Freson, F. de Zegher, 2008, The Journal of clinical endocrinology and metabolism.

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

Ana Cvejic, Panos Deloukas, Matthew E Hurles, 2012, Nature Genetics.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

William J. Astle, Suthesh Sivapalaratnam, Kathleen Stirrups, 2017, Blood.

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

Sylvia Richardson, Augusto Rendon, Sjoert B. G. Jansen, 2015, Genome Medicine.

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

Lieven Lagae, Kathleen Stirrups, Ernest Turro, 2019, JIMD reports.

Transcriptional diversity during lineage commitment of human blood progenitors

Randy J. Read, William J. Astle, Paul Flicek, 2014, Science.

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect.

Etienne Waelkens, Chantal Thys, Kathleen Freson, 2011, Journal of proteomics.

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

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Inherited platelet disorders: toward DNA-based diagnosis.

Ernest Turro, Kathleen Freson, Claire Lentaigne, 2016, Blood.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Randy J Read, Karyn Megy, Suthesh Sivapalaratnam, 2019, Blood.

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Ernest Turro, Daniel Greene, Kate Downes, 2017, Blood.

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Kathleen Stirrups, Isabelle Meyts, Ernest Turro, 2018, The Journal of allergy and clinical immunology.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Sylvia Richardson, Kathleen Stirrups, Wendy N. Erber, 2016, Science Translational Medicine.

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

William J. Astle, Sylvia Richardson, Kathleen Stirrups, 2016, Blood.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Wendy N Erber, Chantal Thys, Kate Downes, 2018, Blood advances.