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Author Details

Matthias Haimel
University of Cambridge
2009
24
15
PMIDPaper TitleJournal TitlePublished Year
33991581Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.J Allergy Clin Immunol2022
35484572SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.Genome Med2022
35028801Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.J Clin Immunol2022
34493544Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.J Med Genet2022
33264411The Human Phenotype Ontology in 2021.Nucleic Acids Res2021
33496735Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency.Blood Adv2021
34628704Thrombomodulin in patients with mild to moderate bleeding tendency.Haemophilia2021
32646852The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity.Sci Immunol2020
31661308Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.Am J Respir Crit Care Med2020
30527956Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.Lancet Respir Med2019
30923185Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.Eur Respir J2019
31064749Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood2019
29650961Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.Nat Commun2018
30354297Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.Circ Genom Precis Med2018
27881557Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension.Circulation2017
28972005Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.Circulation2017
28703137Platelet function is modified by common sequence variation in megakaryocyte super enhancers.Nat Commun2017
28535294HGVA: the Human Genome Variation Archive.Nucleic Acids Res2017
27863252The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.Cell2016
23543352Next-generation sequencing: a challenge to meet the increasing demand for training workshops in Australia.Brief Bioinform2013
23870653Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species.Gigascience2013
21926179Assemblathon 1: a competitive assessment of de novo short read assembly methods.Genome Res2011
19884133Ensembl Genomes: extending Ensembl across the taxonomic space.Nucleic Acids Res2010
19603068ProteinArchitect: protein evolution above the sequence level.PLoS One2009
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Collaborators

Stefan Gr??f
Heart and Lung Research Institute, University of Cambridge
Co-authored papers 9
Marta Bleda
University of Cambridge School of Clinical Medicine
Co-authored papers 8
Willem H Ouwehand
University of Cambridge
Co-authored papers 7
Florent Soubrier
Co-authored papers 5
Kate Downes
Co-authored papers 5
Richard C Trembath
Co-authored papers 5
Louise C Daugherty
Queen Mary University of London, United Kingdom Healx Ltd
Co-authored papers 4
Emilia M Swietlik
University of Cambridge, Heart and Lung Research Institute
Co-authored papers 4
Myrto Kostadima
Co-authored papers 3
Kathleen Freson
Center for Molecular and Vascular Biology, University of Leuven
Co-authored papers 3
Inga Prokopenko
Co-authored papers 3
Paul Kersey
European Bioinformatics Institute
Co-authored papers 3
Nicole Soranzo
Wellcome Sanger Institute
Co-authored papers 3
Julia Pazmandi
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
Co-authored papers 2
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Michael C Schatz
Johns Hopkins University
Co-authored papers 2
Dariusz Przybylski
Howard Hughes Medical Institute, Brandeis University
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Adam M Phillippy
National Human Genome Research Institute, National Institutes of Health
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Benedict Paten
UC Santa Cruz Genomics Institute, University of California
Co-authored papers 2
Ernest Turro
Icahn School of Medicine at Mount Sinai
Co-authored papers 2
Adam S Butterworth
British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge
Co-authored papers 2
Sante Gnerre
Co-authored papers 2
Suthesh Sivapalaratnam
Co-authored papers 2
Fabian Hauck
Department of Pediatrics at the Dr. von Hauner Children's Hospital
Co-authored papers 2
Augusto Rendon
Genomics England Ltd
Co-authored papers 2
Rayan Chikhi
Co-authored papers 2
Christopher J Penkett
National Health Service Blood and Transplant, University of Cambridge
Co-authored papers 2
John Danesh
Co-authored papers 2
Richard Durbin
University of Cambridge
Co-authored papers 2
Karyn Megy
University of Cambridge
Co-authored papers 2
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