Author details

Full Name

Mattia Frontini

Affiliation

ORCID

Career Start Year

1999

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37292725	Increased bleeding and thrombosis in myeloproliferative neoplasms mediated through altered expression of inherited platelet disorder genes.		2023
37596262	A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.	Nat Commun	2023
37647632	The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140â¿¿214 UK Biobank participants.	Blood	2023
37084865	Non-alcoholic fatty liver disease is characterised by a reduced polyunsaturated fatty acid transport via free fatty acids and high-density lipoproteins (HDL).	Mol Metab	2023
36697134	Somatostatin Receptor PET/MR Imaging of Inflammation in Patients With Large Vessel Vasculitis and Atherosclerosis.	J Am Coll Cardiol	2023
35073399	Unique molecular and functional features of extramedullary hematopoietic stem and progenitor cell reservoirs in humans.	Blood	2022
35514262	Non-coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes.	Journal of Thrombosis and Haemostasis	2022
35279219	Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes.	Clin Epigenetics	2022
32703790	Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas.	Haematologica	2021
33587817	Transcriptional characterization of human megakaryocyte polyploidization and lineage commitment.	J Thromb Haemost	2021
34117303	Assessment of a complete and classified platelet proteome from genome-wide transcripts of human platelets and megakaryocytes covering platelet functions.	Scientific Reports	2021
33465109	A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.	PLoS Genetics	2021
33863903	Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease.	Nat Commun	2021
33270854	Breaking barriers: Quebec platelet disorder.	Blood	2020
32314961	Activated Î±Î² on platelets mediates flow-dependent NETosis via SLC44A2.	eLife	2020
32693407	Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.	Blood	2020
33168820	Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells.	Sci Data	2020
31217188	Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.	Blood	2019
31747616	Dynamic Transcriptome-Proteome Correlation Networks Reveal Human Myeloid Differentiation and Neutrophil-Specific Programming.	Cell Reports	2019
30545925	High-throughput elucidation of thrombus formation reveals sources of platelet function variability.	Haematologica	2019
30467204	Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.	Haematologica	2019
30184510	Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils.	Cell Rep	2018
30270482	Histone Acetyltransferase KAT2A Stabilizes Pluripotency with Control of Transcriptional Heterogeneity.	Stem Cells	2018
30390057	Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.	Nat Genet	2018
28126036	Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.	Genome Biol	2017
28502479	Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations.	Am J Pathol	2017
28385306	Detection of Atherosclerotic Inflammation by <sup>68</sup>Ga-DOTATATE PET Compared to [<sup>18</sup>F]FDG PET Imaging.	J Am Coll Cardiol	2017
28542600	SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume.	PLoS One	2017
28703137	Platelet function is modified by common sequence variation in megakaryocyte super enhancers.	Nat Commun	2017
28870212	Chromosome contacts in activated T cells identify autoimmune disease candidate genes.	Genome Biol	2017
28253359	CSB ablation induced apoptosis is mediated by increased endoplasmic reticulum stress response.	PLoS ONE	2017
28205406	Potency of Human Cardiosphere-Derived Cells from Patients with Ischemic Heart Disease Is Associated with Robust Vascular Supportive Ability.	Stem cells translational medicine	2017
27863249	Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters.	Cell	2016
27347755	Saturation analysis for whole-genome bisulfite sequencing data.	Nat Biotechnol	2016
27346250	Information recovery from low coverage whole-genome bisulfite sequencing.	Nat Commun	2016
26681950	Epigenetic Control of Haematopoietic Stem Cell Aging and Its Clinical Implications.		2016
27898055	Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.	Nat Commun	2016
27851974	eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data.	Cell Rep	2016
27851971	Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems.	Cell Rep	2016
27867036	DNA Methylation Dynamics of Human Hematopoietic Stem Cell Differentiation.	Cell Stem Cell	2016
27668658	Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.	Nat Genet	2016
27863252	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.	Cell	2016
27863251	Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.	Cell	2016
26030138	Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics.	PLoS ONE	2015
24874740	The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis.	Cell Death and Disease	2014
25258084	Transcriptional diversity during lineage commitment of human blood progenitors.	Science	2014
25258085	Epigenetic programming of monocyte-to-macrophage differentiation and trained innate immunity.	Science	2014
23419237	The CSB repair factor is overexpressed in cancer cells, increases apoptotic resistance, and promotes tumor growth.		2013
23563608	SMIM1 underlies the Vel blood group and influences red blood cell traits.	Nat Genet	2013
22898779	The CDK subunit CKS2 counteracts CKS1 to control cyclin A/CDK2 activity in maintaining replicative fidelity and neurodevelopment.	Dev Cell	2012