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EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension

Nature genetics, 2014-01, Vol.46 (1), p.65-69

2014

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Human Immune Responses to Adeno-Associated Virus (AAV) Vectors

Frontiers in immunology, 2020-04, Vol.11, p.670-670

2020

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A Novel Channelopathy in Pulmonary Arterial Hypertension

The New England journal of medicine, 2013-07, Vol.369 (4), p.351-361

2013

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The ribosome, (slow) beating heart of cancer (stem) cell

Oncogenesis (New York, NY), 2018-04, Vol.7 (4), p.34-13, Article 34

2018

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Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

Clinical genetics, 2019-03, Vol.95 (3), p.356-367

2019

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Maximizing the Power of Principal-Component Analysis of Correlated Phenotypes in Genome-wide Association Studies

American journal of human genetics, 2014-05, Vol.94 (5), p.662-676

2014

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Removing Batch Effects from Longitudinal Gene Expression - Quantile Normalization Plus ComBat as Best Approach for Microarray Transcriptome Data

PloS one, 2016-06, Vol.11 (6), p.e0156594-e0156594

2016

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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

Journal of thrombosis and haemostasis, 2021-10, Vol.19 (10), p.2612-2617

2021

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Post-transcriptional control of haemostatic genes: mechanisms and emerging therapeutic concepts in thrombo-inflammatory disorders

Cardiovascular research, 2023-07, Vol.119 (8), p.1624-1640

2023

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Impaired balance between neutrophil extracellular trap formation and degradation by DNases in COVID-19 disease

Journal of translational medicine, 2024-03, Vol.22 (1), p.246-18, Article 246

2024

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Ultrafast Click Chemistry with Fluorosydnones

Angewandte Chemie (International ed.), 2016-09, Vol.55 (39), p.12073-12077

International ed. in English, 2016

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Effects of Genetically Determined Iron Status on Risk of Venous Thromboembolism and Carotid Atherosclerotic Disease: A Mendelian Randomization Study

Journal of the American Heart Association, 2019-08, Vol.8 (15), p.e012994-e012994

2019

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What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies

British journal of haematology, 2018-02, Vol.180 (3), p.335-345

2018

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DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis

Clinical genetics, 2024-02, Vol.105 (2), p.185-189

2024

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Tuning the Reactivity of a Heterogeneous Catalyst using N‐Heterocyclic Carbene Ligands for C−H Activation Reactions

Angewandte Chemie International Edition, 2020-11, Vol.59 (47), p.20879-20884

International ed. in English, 2020

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Transition‐Metal‐Free Carbon Isotope Exchange of Phenyl Acetic Acids

Angewandte Chemie International Edition, 2020-08, Vol.59 (32), p.13490-13495

International ed. in English, 2020

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Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project

British journal of haematology, 2012-04, Vol.157 (2), p.230-239

2012

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Efficient Access to Deuterated and Tritiated Nucleobase Pharmaceuticals and Oligonucleotides using Hydrogen‐Isotope Exchange

Angewandte Chemie International Edition, 2019-04, Vol.58 (15), p.4891-4895

International ed. in English, 2019

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Hydrogen Isotope Exchange Catalyzed by Ru Nanocatalysts: Labelling of Complex Molecules Containing N‐Heterocycles and Reaction Mechanism Insights

Chemistry : a European journal, 2020-04, Vol.26 (22), p.4988-4996

2020

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Pharmacogenetic Assessment of Toxicity and Outcome in Patients With Metastatic Colorectal Cancer Treated With LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05

Journal of clinical oncology, 2010-05, Vol.28 (15), p.2556-2564

2010

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Genetics of Venous Thrombosis: update in 2015

Thrombosis and haemostasis, 2015-11, Vol.114 (5), p.910-919

2015

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Next-generation sequencing strategies in venous thromboembolism: in whom and for what purpose?

Journal of thrombosis and haemostasis, 2024-07, Vol.22 (7), p.1826-1834

2024

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Addressing unmeasured confounders in cohort studies: Instrumental variable method for a time‐fixed exposure on an outcome trajectory

Biometrical journal, 2024-01, Vol.66 (1), p.e2200358-n/a

2024

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Shared genetic regulatory networks for cardiovascular disease and type 2 diabetes in multiple populations of diverse ethnicities in the United States

PLoS genetics, 2017-09, Vol.13 (9), p.e1007040-e1007040

2017

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EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension

Human Immune Responses to Adeno-Associated Virus (AAV) Vectors

A Novel Channelopathy in Pulmonary Arterial Hypertension

The ribosome, (slow) beating heart of cancer (stem) cell

Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

Maximizing the Power of Principal-Component Analysis of Correlated Phenotypes in Genome-wide Association Studies

DNA methylation and body-mass index: a genome-wide analysis

Removing Batch Effects from Longitudinal Gene Expression - Quantile Normalization Plus ComBat as Best Approach for Microarray Transcriptome Data

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

Post-transcriptional control of haemostatic genes: mechanisms and emerging therapeutic concepts in thrombo-inflammatory disorders

Impaired balance between neutrophil extracellular trap formation and degradation by DNases in COVID-19 disease

Ultrafast Click Chemistry with Fluorosydnones

Effects of Genetically Determined Iron Status on Risk of Venous Thromboembolism and Carotid Atherosclerotic Disease: A Mendelian Randomization Study

What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies

DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis

Tuning the Reactivity of a Heterogeneous Catalyst using N‐Heterocyclic Carbene Ligands for C−H Activation Reactions

Transition‐Metal‐Free Carbon Isotope Exchange of Phenyl Acetic Acids

Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project

Efficient Access to Deuterated and Tritiated Nucleobase Pharmaceuticals and Oligonucleotides using Hydrogen‐Isotope Exchange

Hydrogen Isotope Exchange Catalyzed by Ru Nanocatalysts: Labelling of Complex Molecules Containing N‐Heterocycles and Reaction Mechanism Insights

Pharmacogenetic Assessment of Toxicity and Outcome in Patients With Metastatic Colorectal Cancer Treated With LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05

Genetics of Venous Thrombosis: update in 2015

Next-generation sequencing strategies in venous thromboembolism: in whom and for what purpose?

Addressing unmeasured confounders in cohort studies: Instrumental variable method for a time‐fixed exposure on an outcome trajectory

Shared genetic regulatory networks for cardiovascular disease and type 2 diabetes in multiple populations of diverse ethnicities in the United States

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