Matthias Haimel

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

Journal: Journal of medical genetics

Published: March 21, 2021

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

Journal: American journal of respiratory and critical care medicine

Published: October 30, 2019

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

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

Journal: Nature

Published: December 23, 2018

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.

Journal: Circulation. Genomic and precision medicine

Published: October 26, 2018

Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.

Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.

Journal: The European respiratory journal

Published: August 03, 2018

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Journal: The Lancet. Respiratory medicine

Published: July 18, 2018

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Journal: Nature communications

Published: September 05, 2017

Platelet function is modified by common sequence variation in megakaryocyte super enhancers.

Platelet function is modified by common sequence variation in megakaryocyte super enhancers.

Journal: Nature communications

Published: March 29, 2017

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

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

Journal: Circulation

Published: March 14, 2017

HGVA: the Human Genome Variation Archive.

HGVA: the Human Genome Variation Archive.

Journal: Nucleic acids research

Published: February 24, 2017

Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension.

Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension.

Journal: Circulation

Published: July 21, 2016

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

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

Journal: Cell

Published: February 01, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026