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Author Details

Johanna Hadler
Flinders University, Flinders Medical Centre
2010
12
9
Nathan Sheffield (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36217948Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.Hum Mutat2022
36332611Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.Am J Hum Genet2022
35985662Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.Mol Genet Genomic Med2022
28134926DNA methylation heterogeneity defines a disease spectrum in Ewing sarcoma.Nat Med2017
26673328Differential DNA Methylation Analysis without a Reference Genome.Cell Rep2015
24782177Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.Arthritis Rheumatol2014
23406874Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes.Hum Mol Genet2013
23749187Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.Nat Genet2013
21533022Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.PLoS Genet2011
21784728Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.Ann Rheum Dis2011
20062062Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.Nat Genet2010
21152001Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease.PLoS Genet2010
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Collaborators

Matthew A Brown
Co-authored papers 7
Bryan Paul Wordsworth
Co-authored papers 3
John D Reveille
University of Texas
Co-authored papers 3
David M Evans
Medical Research Council Integrative Epidemiology Unit at the University of Bristol
Co-authored papers 3
Peter M Visscher
Co-authored papers 2
Jian Yang
Co-authored papers 2
Dafna D Gladman
Schroeder Arthritis Institute, Krembil Research Institute, Toronto Western Hospital
Co-authored papers 2
Christoph Bock
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Co-authored papers 2
Paul Datlinger
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Co-authored papers 2
Emma L Duncan
Co-authored papers 2
David A Mackey
Lions Eye Institute, University of Western Australia
Co-authored papers 2
Alex W Hewitt
Menzies Institute for Medical Research, University of Tasmania
Co-authored papers 2
Johanna Klughammer
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Co-authored papers 2
Panos Deloukas
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Jamie E Craig
Flinders Medical Centre, Flinders University
Co-authored papers 2
Nathan Sheffield (CM4AI)
University of Virginia
Co-authored papers 2
Li Jin
Fudan University
Co-authored papers 1
Didier Surdez
Balgrist University Hospital, University of Zurich (UZH)
Co-authored papers 1
Elaine M Dennison
Co-authored papers 1
David M Reid
Co-authored papers 1
Tim D Spector
King's College London
Co-authored papers 1
Eleni M Tomazou
St. Anna Children's Cancer Research Institute (CCRI)
Co-authored papers 1
Peter Donnelly
University of Oxford
Co-authored papers 1
Matthias Farlik
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Co-authored papers 1
Olivier Delattre
PSL Research University, Institut Curie Research Center, INSERM U, Institut Curie
Co-authored papers 1
John Brent Richards
Lady Davis Institute for Medical Research, Jewish General Hospital
Co-authored papers 1
Katia Nones
QIMR Berghofer Medical Research Institute
Co-authored papers 1
Michael Schuster
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Co-authored papers 1
Berthold Huppertz
Gottfried Schatz Research Center, Medical University of Graz
Co-authored papers 1
Pamela Whittaker
King Edward Memorial Hospital
Co-authored papers 1
Release 1.2