MH
Matthias Haimel
geneticsGenetic Variationhypertension, pulmonaryBlood Coagulation DisordersMutationPulmonary Arterial HypertensionSoftwareanticoagulantsautoimmune diseasesAutoinflammation
On Valency
published · living versionsW_26xzgw86·v1 · currentpublished
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species
with Keith R. Bradnam, Joseph N. Fass, Anton Alexandrov, Paul Baranay +86
1 version
Preprints & journals
32 papers in the corpus · 2009–2025Protein palmitoylation and sphingolipid metabolism control regulated exocytosis in cytotoxic lymphocytes.41105755 · Kalinichenko, Artem, Huemer, Jakob, Humer, Theresa et al.2025 · 5 citationsScience immunology. 2025;10(112):eado3825
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.38434532 · Kager, Leo, Jimenez-Heredia, Raúl, Zeitlhofer, Petra et al.2024 · 5 citationsHemaSphere. 2024;8(1):e31
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.37781402 · Maassen, Willem, Legger, Geertje, Kul Cinar, Ovgu et al.2023 · 12 citationsFrontiers in immunology. 2023;14:1215869
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.35484572 · Danis, Daniel, Jacobsen, Julius O B, Balachandran, Parithi et al.2022 · 35 citationsGenome medicine. 2022;14(1):44
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.34920454 · Shahin, Tala, Mayr, Daniel, Shoeb, Mohamed R et al.2022 · 56 citationsBlood advances. 2022;6(7):2444-2451
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.35028801 · Surucu Yilmaz, Naz, Bilgic Eltan, Sevgi, Kayaoglu, Basak et al.2022 · 11 citationsJournal of clinical immunology. 2022;42(3):582-596
Thrombomodulin in patients with mild to moderate bleeding tendency.34628704 · Mehic, Dino, Tolios, Alexander, Hofer, Stefanie et al.2021 · 13 citationsHaemophilia : the official journal of the World Federation of Hemophilia. 2021;27(6):1028-1036
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.34493544 · Machado, Rajiv D, Welch, Carrie L, Haimel, Matthias et al.2022 · 29 citationsJournal of medical genetics. 2022;59(9):906-911
SvAnna: efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing10.1101/2021.07.14.452267v1 · Danis, D., Jacobsen, J. O. B., Balachandran, P. et al.2021 · 2 citationsbioRxiv
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.33991581 · Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez et al.2022 · 33 citationsThe Journal of allergy and clinical immunology. 2022;149(1):369-378
Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency.33496735 · Mehic, Dino, Tolios, Alexander, Hofer, Stefanie et al.2021 · 36 citationsBlood advances. 2021;5(2):391-398
The Human Phenotype Ontology in 2021.33264411 · Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas et al.2021 · 1,145 citationsNucleic acids research. 2021;49(D1):D1207-D1217
The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity.32646852 · Salzer, Elisabeth, Zoghi, Samaneh, Kiss, Máté G et al.2022 · 48 citationsScience immunology. 2020;5(49)
Whole-genome sequencing of patients with rare diseases in a national health system.32581362 · Turro, Ernest, Astle, William J, Megy, Karyn et al.2020 · 570 citationsNature. 2020;583(7814):96-102
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.31661308 · Hodgson, Joshua, Swietlik, Emilia M, Salmon, Richard M et al.2020 · 123 citationsAmerican journal of respiratory and critical care medicine. 2020;201(5):575-585
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.31064749 · Downes, Kate, Megy, Karyn, Duarte, Daniel et al.2020 · 223 citationsBlood. 2019;134(23):2082-2091
Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.30923185 · Sofianopoulou, Eleni, Kaptoge, Stephen, Gräf, Stefan et al.2020 · 57 citationsThe European respiratory journal. 2019;53(5)
Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders10.1101/504142v1 · Downes, K., Megy, K., Duarte, D. et al.2018 · 0 citationsbioRxiv
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.30527956 · Rhodes, Christopher J, Batai, Ken, Bleda, Marta et al.2020 · 210 citationsThe Lancet. Respiratory medicine. 2019;7(3):227-238
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.30354297 · Bohnen, Michael S, Ma, Lijiang, Zhu, Na et al.2019 · 81 citationsCirculation. Genomic and precision medicine. 2018;11(10):e002087
Genetic determinants of risk and survival in pulmonary arterial hypertension10.1101/317164v2 · Rhodes, C., Batai, K., Bleda, M. et al.2018 · 0 citationsbioRxiv
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.29650961 · Gräf, Stefan, Haimel, Matthias, Bleda, Marta et al.2018 · 380 citationsNature communications. 2018;9(1):1416
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.28972005 · Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias et al.2017 · 147 citationsCirculation. 2017;136(21):2022-2033
Platelet function is modified by common sequence variation in megakaryocyte super enhancers.28703137 · Petersen, Romina, Lambourne, John J, Javierre, Biola M et al.2018 · 58 citationsNature communications. 2017;8:16058
HGVA: the Human Genome Variation Archive.28535294 · Lopez, Javier, Coll, Jacobo, Haimel, Matthias et al.2019 · 8 citationsNucleic acids research. 2017;45(W1):W189-W194
Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension.27881557 · Rhodes, Christopher J, Ghataorhe, Pavandeep, Wharton, John et al.2017 · 217 citationsCirculation. 2017;135(5):460-475
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.27863252 · Astle, William J, Elding, Heather, Jiang, Tao et al.2017 · 1,221 citationsCell. 2016;167(5):1415-1429.e19
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species.23870653 · Bradnam, Keith R, Fass, Joseph N, Alexandrov, Anton et al.2014 · 671 citationsGigaScience. 2013;2(1):10
Next-generation sequencing: a challenge to meet the increasing demand for training workshops in Australia.23543352 · Watson-Haigh, Nathan S, Shang, Catherine A, Haimel, Matthias et al.2014 · 15 citationsBriefings in bioinformatics. 2013;14(5):563-74
Assemblathon 1: a competitive assessment of de novo short read assembly methods.21926179 · Earl, Dent, Bradnam, Keith, St John, John et al.2012 · 507 citationsGenome research. 2011;21(12):2224-41
Ensembl Genomes: extending Ensembl across the taxonomic space.19884133 · Kersey, P J, Lawson, D, Birney, E et al.2010 · 160 citationsNucleic acids research. 2010;38(Database issue):D563-9
ProteinArchitect: protein evolution above the sequence level.19603068 · Haimel, Matthias, Pröll, Karin, Rebhan, Michael2009 · 2 citationsPloS one. 2009;4(7):e6176
Career total: 85 works. 32 are in this corpus.
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