Johanna Hadler
Overview
Explore the profile of Johanna Hadler including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
1194
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0
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Recent Articles
1.
Fortuno C, Cops E, Davidson A, Hadler J, Innella G, McKenzie M, et al.
Eur J Hum Genet
. 2024 Oct;
32(12):1632-1639.
PMID: 39402389
Breast cancer remains a significant global health challenge. In Australia, the adoption of publicly-funded multigene panel testing for eligible cancer patients has increased accessibility to personalised care, yet has also...
2.
Parsons M, de la Hoya M, Richardson M, Tudini E, Anderson M, Berkofsky-Fessler W, et al.
Am J Hum Genet
. 2024 Aug;
111(9):2044-2058.
PMID: 39142283
The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA BRCA1/2 classification sub-group, formed in 2015 as...
3.
Tudini E, Andrews J, Lawrence D, King-Smith S, Baker N, Baxter L, et al.
Am J Hum Genet
. 2022 Nov;
109(11):1960-1973.
PMID: 36332611
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to...
4.
Burdon K, Graham P, Hadler J, Hulleman J, Pasutto F, Boese E, et al.
Hum Mutat
. 2022 Oct;
43(12):2170-2186.
PMID: 36217948
The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical...
5.
Souzeau E, Siggs O, Mullany S, Schmidt J, Hassall M, Dubowsky A, et al.
Mol Genet Genomic Med
. 2022 Aug;
10(10):e2023.
PMID: 35985662
Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been...
6.
Sheffield N, Pierron G, Klughammer J, Datlinger P, Schonegger A, Schuster M, et al.
Nat Med
. 2017 Jan;
23(3):386-395.
PMID: 28134926
Developmental tumors in children and young adults carry few genetic alterations, yet they have diverse clinical presentation. Focusing on Ewing sarcoma, we sought to establish the prevalence and characteristics of...
7.
Klughammer J, Datlinger P, Printz D, Sheffield N, Farlik M, Hadler J, et al.
Cell Rep
. 2015 Dec;
13(11):2621-2633.
PMID: 26673328
Genome-wide DNA methylation mapping uncovers epigenetic changes associated with animal development, environmental adaptation, and species evolution. To address the lack of high-throughput methods for DNA methylation analysis in non-model organisms,...
8.
Jiang L, Yin J, Ye L, Yang J, Hemani G, Liu A, et al.
Arthritis Rheumatol
. 2014 May;
66(5):1121-32.
PMID: 24782177
Objective: To investigate differences in genetic risk factors for rheumatoid arthritis (RA) in Han Chinese as compared with Europeans. Methods: A genome-wide association study was conducted in China with 952...
9.
Cortes A, Hadler J, Pointon J, Robinson P, Karaderi T, Leo P, et al.
Nat Genet
. 2013 Jun;
45(7):730-8.
PMID: 23749187
Ankylosing spondylitis is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. In addition to HLA-B*27 alleles, 12 loci have previously been identified that are associated with...
10.
Cortes A, Field J, Glazov E, Hadler J, Stankovich J, Brown M
Hum Mol Genet
. 2013 Feb;
22(11):2283-92.
PMID: 23406874
Multiple sclerosis (MS) is a common chronic inflammatory disease of the central nervous system. Susceptibility to the disease is affected by both environmental and genetic factors. Genetic factors include haplotypes...