Publications by authors named "Christopher N Hahn"

40Publications

Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).

Blood 2020 Jul;136(1):24-35

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.

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July 2020

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

NPJ Genom Med 2019 14;4:28. Epub 2019 Nov 14.

1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.

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November 2019

A Method for Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with Leukemia.

J Mol Diagn 2017 09 18;19(5):711-721. Epub 2017 Jul 18.

Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia; School of Medicine, Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia; Australasian Leukaemia and Lymphoma Group, Melbourne, Victoria, Australia; Department of Haematology, Royal Adelaide Hospital and SA Pathology, Adelaide, South Australia, Australia; Department of Molecular Medicine and Pathology, Flinders University and Medical Centre, Adelaide, South Australia, Australia. Electronic address:

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September 2017

Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features.

J Paediatr Child Health 2017 10 4;53(10):1018-1020. Epub 2017 Jul 4.

Department of Haematology-Oncology, Women's and Children's Hospital, Adelaide, South Australia, Australia.

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October 2017

Myeloid neoplasms with germline DDX41 mutation.

Int J Hematol 2017 Aug 25;106(2):163-174. Epub 2017 May 25.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, PO Box 14, Rundle Mall, Adelaide, 5000, SA, Australia.

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August 2017

T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ.

J Autoimmun 2017 Jul 18;81:24-33. Epub 2017 Mar 18.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia; ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia; School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Australia; School of Biological Sciences, University of Adelaide, Australia; School of Medicine, University of Adelaide, Adelaide, Australia. Electronic address:

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July 2017

In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts.

Data Brief 2016 Jun 17;7:282-90. Epub 2016 Feb 17.

Department of Molecular Pathology, The Institute of Medical and Veterinary Science and The Hanson Institute, P.O. Box 14 Rundle Mall Post Office, Adelaide, SA 5000, Australia; School of Medicine, Faculty of Health Sciences, University of Adelaide, Adelaide, SA 5005, Australia.

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June 2016

Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain.

Genomics 2016 Mar 21;107(2-3):88-99. Epub 2016 Jan 21.

Department of Molecular Pathology, The Institute of Medical and Veterinary Science and The Hanson Institute, P.O. Box 14 Rundle Mall Post Office, Adelaide, SA 5000, Australia; School of Medicine, Faculty of Health Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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March 2016

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Blood 2016 Feb 28;127(8):1017-23. Epub 2015 Dec 28.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia; School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA, Australia; School of Medicine, University of Adelaide, Adelaide, SA, Australia; School of Molecular and Biological Sciences, University of Adelaide, Adelaide, SA, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology.

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February 2016

Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics.

Sci Rep 2015 Jul 9;5:10940. Epub 2015 Jul 9.

1] School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai 200240, China [2] Shanghai Center for Bioinformation Technology, 1278 Keyuan Road, Pudong District, Shanghai 201203, China.

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July 2015

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

Am J Med Genet A 2015 Aug 6;167A(8):1872-6. Epub 2015 Apr 6.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.

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August 2015

Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy.

Immunol Rev 2015 Jan;263(1):257-78

Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia; Department of Molecular Pathology, SA Pathology, Adelaide, SA, Australia; School of Medicine, University of Adelaide, Adelaide, SA, Australia; Molecular and Biomedical Science, University of Adelaide, Adelaide, SA, Australia.

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January 2015

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

J Clin Endocrinol Metab 2014 Sep 6;99(9):E1784-92. Epub 2014 Jun 6.

Endocrine and Metabolic Unit (L.G., D.J.T.), Royal Adelaide Hospital; Department of Genetics and Molecular Pathology (L.G., C.N.H., B.E.O., H.S.S.) and ACRF Cancer Genomics Facility (A.W.S., J.F., H.S.S.), Centre for Cancer Biology, SA Pathology; and School of Pharmacy and Medical Sciences (H.S.S.), Division of Health Sciences, University of South Australia, Adelaide SA 5000, Australia; Schools of Medicine (L.G., C.N.H., D.J.T., H.S.S.) and Molecular and Biomedical Science (A.W.S., J.F., D.L.A., H.S.S.), University of Adelaide SA 5005, Australia; Oxford Medical Genetics Laboratories (T.C., H.B.), Oxford University Hospitals National Health Service Trust, and Oxford Centre for Diabetes, Endocrinology and Metabolism (A.B.G.), Churchill Hospital, University of Oxford, Oxford OX3 7LE, United Kingdom; Department of Endocrinology (C.H.), Greenlane Clinical Centre, Auckland District Health Board, Auckland 1051, New Zealand; Department of Clinical Science (B.E.O.), University of Bergen, 5021 Bergen, Norway; Department of Endocrinology (R.C.), North Shore Hospital, Waitemata District Health Board, Auckland 0622, New Zealand; Department of Endocrinology (W.J.B.), Flinders Medical Centre, Bedford Park, SA 5042 Australia; School of Medicine (R.D.G.), University of Queensland, Brisbane QLD 4072, Australia; Endocrine Hypertension Research Centre (R.D.G.), Greenslopes and Princess Alexandra Hospitals, Brisbane QLD 4120, Australia; and Centre for Endocrine and Diabetes Sciences (D.A.R.), School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.

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September 2014

Spliceosome mutations in hematopoietic malignancies.

Nat Genet 2011 Dec 27;44(1):9-10. Epub 2011 Dec 27.

Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.

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December 2011

Sphingosine kinase-1 associates with integrin {alpha}V{beta}3 to mediate endothelial cell survival.

Am J Pathol 2009 Nov 8;175(5):2217-25. Epub 2009 Oct 8.

Centenary Institute for Cancer Medicine and Cell Biology, University of Sydney, Australia.

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November 2009

Phenoxodiol, an experimental anticancer drug, shows potent antiangiogenic properties in addition to its antitumour effects.

Int J Cancer 2006 May;118(10):2412-20

Division of Human Immunology, Hanson Institute, Institute of Medical and Veterinary Science, and Division of Human Immunology, the University of Adelaide 5000, Australia.

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May 2006

A vascular cell-restricted RhoGAP, p73RhoGAP, is a key regulator of angiogenesis.

Proc Natl Acad Sci U S A 2004 Aug 9;101(33):12212-7. Epub 2004 Aug 9.

Vascular Biology Laboratory, Division of Human Immunology, Hanson Institute, Institute of Medical and Veterinary Science, Adelaide, SA 5000, Australia.

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August 2004

Role of protein kinase Czeta in thrombin-induced endothelial permeability changes: inhibition by angiopoietin-1.

Blood 2004 Sep 1;104(6):1716-24. Epub 2004 Jun 1.

Vascular Biology Laboratory, Division of Human Immunology, Hanson Institute, Institute of Medical and Veterinary Science, Frome Road, Adelaide, South Australia 5000.

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September 2004