List of works - Kathleen Freson

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

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

scientific article (publication date: 2014)

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

scientific article

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

scientific article

Transcriptional diversity during lineage commitment of human blood progenitors

scientific article

Investigating the influence of maternal cortisol and emotional state during pregnancy on the DNA methylation status of the glucocorticoid receptor gene (NR3C1) promoter region in cord blood.

scientific article published on 6 April 2013

Distinct neurological disorders with ATP1A3 mutations

scientific article

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

scientific article published on 15 April 2016

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

scientific article published on 9 April 2015

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

scientific article (publication date: 15 January 2002)

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

scientific article

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

scientific article

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

scientific article

Inherited platelet disorders: toward DNA-based diagnosis

scientific article

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

scientific article published on 07 February 2017

Inherited platelet disorders

scientific article published on 01 July 2012

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

scientific article

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

scientific article

A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1.

scientific article

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation

scientific article

The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure

scientific article

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

scientific article published on 08 May 2008

PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway

scientific article

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions

scientific article

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

scientific article published on 28 September 2017

DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.

scientific article

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

scientific article

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

scientific article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

scientific article

PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications

scientific article

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Emerging treatments for thrombocytopenia: increasing platelet production

scientific article

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

scientific article

DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects

scientific article

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

scientific article published in August 2001

Chronic Fatigue Syndrome and DNA Hypomethylation of the Glucocorticoid Receptor Gene Promoter 1F Region: Associations With HPA Axis Hypofunction and Childhood Trauma

scientific article published on 30 July 2015

Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake

scientific article published on 28 June 2011

Allele-specific DNA methylation reinforces PEAR1 enhancer activity

scientific article

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction

scientific article

Dietary and supplemental maternal methyl-group donor intake and cord blood DNA methylation

scientific article published on 10 November 2016

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

scientific article published on 21 June 2017

Regulators of platelet cAMP levels: clinical and therapeutic implications

scientific article

Regulators of G protein signaling: role in hematopoiesis, megakaryopoiesis and platelet function

scientific article published on November 1, 2012

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

scientific article published on 16 August 2012

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

scientific article published on 26 January 2016

Human platelet pathology related to defects in the G-protein signaling cascade.

scientific article published on July 2009

Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system

scientific article

Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity

scientific article

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

scientific article published on 14 November 2016

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system

scientific article published on 31 August 2010

List of works by Kathleen Freson

The Human Phenotype Ontology in 2017

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

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

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

Transcriptional diversity during lineage commitment of human blood progenitors

Investigating the influence of maternal cortisol and emotional state during pregnancy on the DNA methylation status of the glucocorticoid receptor gene (NR3C1) promoter region in cord blood.

Distinct neurological disorders with ATP1A3 mutations

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

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

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

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

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

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

Inherited platelet disorders: toward DNA-based diagnosis

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

Inherited platelet disorders

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

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1.

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation

The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions

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

DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

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

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Emerging treatments for thrombocytopenia: increasing platelet production

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

Chronic Fatigue Syndrome and DNA Hypomethylation of the Glucocorticoid Receptor Gene Promoter 1F Region: Associations With HPA Axis Hypofunction and Childhood Trauma

Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake

Allele-specific DNA methylation reinforces PEAR1 enhancer activity

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction

Dietary and supplemental maternal methyl-group donor intake and cord blood DNA methylation

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

Regulators of platelet cAMP levels: clinical and therapeutic implications

Regulators of G protein signaling: role in hematopoiesis, megakaryopoiesis and platelet function

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Human platelet pathology related to defects in the G-protein signaling cascade.

Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system

Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system