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Author Details

Stefan Gr??f
Heart and Lung Research Institute, University of Cambridge
1999
63
33
Nathan Sheffield (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36302552Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.Eur Respir J2023
38076809Reversal of pulmonary veno-occlusive disease phenotypes by inhibition of the integrated stress response.bioRxiv2023
37422716Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.Genet Med2023
36721385Reduced circulating BMP9 and pBMP10 in hospitalized COVID-19 patients.Pulm Circ2023
36712057Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension.bioRxiv2023
36367783Molecular Function and Contribution of <i>TBX4</i> in Development and Disease.Am J Respir Crit Care Med2023
34493544Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.J Med Genet2022
35394406Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension.Am J Respir Crit Care Med2022
36186719A pilot study to examine association of BMI with functional class and 6⿿min walk distance in idiopathic and heritable PAH: Possible association with estrogen metabolism.Pulm Circ2022
35063447Different Cytokine Patterns in BMPR2-Mutation-Positive Patients and Patients With Pulmonary Arterial Hypertension Without Mutations and Their Influence on Survival.Chest2022
35081018Using the Plasma Proteome for Risk Stratifying Patients with Pulmonary Arterial Hypertension.Am J Respir Crit Care Med2022
34588193Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.Eur Respir J2022
34181952Severe Pulmonary Arterial Hypertension Is Characterized by Increased Neutrophil Elastase and Relative Elafin Deficiency.Chest2021
33712516<i>NOTCH3</i> variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.J Neurol Neurosurg Psychiatry2021
34526699Federated learning for predicting clinical outcomes in patients with COVID-19.Nat Med2021
34433685Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).Pract Neurol2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34158098Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.Genome Med2021
31406341Molecular genetic framework underlying pulmonary arterial hypertension.Nat Rev Cardiol2020
31744833Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension.Eur Respir J2020
31661308Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.Am J Respir Crit Care Med2020
31980491Familial pulmonary arterial hypertension by <i>KDR</i> heterozygous loss of function.Eur Respir J2020
33256119'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.Genes (Basel)2020
33105808Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.Genes (Basel)2020
33150157The role of genomics and genetics in pulmonary arterial hypertension.Glob Cardiol Sci Pract2020
32609816Eukaryotic life without tQCUG: the role of Elongator-dependent tRNA modifications in Dictyostelium discoideum.Nucleic Acids Res2020
30527956Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.Lancet Respir Med2019
31719132How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.Neurology2019
30923185Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.Eur Respir J2019
30655285The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension.Eur Respir J2019
29650961Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.Nat Commun2018
29844075Response by Hadinnapola et al to Letter Regarding Article, "Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension".Circulation2018
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
28535294HGVA: the Human Genome Variation Archive.Nucleic Acids Res2017
26795434BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis.Lancet Respir Med2016
27587586Genome-wide identification and characterisation of human DNA replication origins by initiation site sequencing (ini-seq).Nucleic Acids Res2016
27694411Towards a molecular classification of pulmonary arterial hypertension.Eur Respir J2016
27542606Reliable gene expression profiling of formalin-fixed paraffin-embedded breast cancer tissue (FFPE) using cDNA-mediated annealing, extension, selection, and ligation whole-genome (DASL WG) assay.BMC Med Genomics2016
26888907Ensembl regulation resources.Database (Oxford)2016
25611378The malignant phenotype in breast cancer is driven by eIF4A1-mediated changes in the translational landscape.Cell Death Dis2015
26387786Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.Hum Mutat2015
26076038Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension.Nat Med2015
23644459The shaping and functional consequences of the microRNA landscape in breast cancer.Nature2013
22522925The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups.Nature2012
23100629Quantitative image analysis of cellular heterogeneity in breast tumors complements genomic profiling.Sci Transl Med2012
21081661From alpaca to zebrafish: hammerhead ribozymes wherever you look.RNA2011
21750106Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity.Genome Res2011
19906699Ensembl's 10th year.Nucleic Acids Res2010
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Collaborators

Emilia M Swietlik
University of Cambridge, Heart and Lung Research Institute
Co-authored papers 14
Richard C Trembath
Co-authored papers 12
Florent Soubrier
Co-authored papers 11
Marta Bleda
University of Cambridge School of Clinical Medicine
Co-authored papers 10
Ewan Birney
European Bioinformatics Institute
Co-authored papers 10
Paul Flicek
European Bioinformatics Institute
Co-authored papers 10
Matthias Haimel
University of Cambridge
Co-authored papers 9
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 8
Damian Keefe
University of Adelaide
Co-authored papers 7
Tim Hubbard
Co-authored papers 7
Richard Durbin
University of Cambridge
Co-authored papers 6
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 6
Gerhard Steger
Institut fur Pysikalische Biologie, Heinrich Heine University Dusseldorf
Co-authored papers 6
Carlos Caldas
Cancer Research UK Cambridge Institute, University of Cambridge
Co-authored papers 5
Willem H Ouwehand
University of Cambridge
Co-authored papers 5
Inga Prokopenko
Co-authored papers 5
Thomas A Down
Co-authored papers 5
Michael Schuster
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
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Stephen M J Searle
Wellcome Trust Sanger Institute
Co-authored papers 5
Fiona Cunningham
European Bioinformatics Institute
Co-authored papers 5
Karyn Megy
University of Cambridge
Co-authored papers 4
Arek Kasprzyk
European Bioinformatics Institute (EBI)
Co-authored papers 4
Eric D Austin
Vanderbilt University Medical Center
Co-authored papers 4
Laura Clarke
Co-authored papers 4
Syed Haider
Institute of Cancer Research
Co-authored papers 4
Richard Holland
Eagle Genomics Ltd
Co-authored papers 3
Christina Curtis
Stanford University School of Medicine
Co-authored papers 3
Oscar M Rueda
University of Cambridge
Co-authored papers 3
Andreas Prli??
University of California
Co-authored papers 3
Simon Tavar??
Irving Institute for Cancer Dynamics, Columbia University
Co-authored papers 3
Release 1.2