Publications by authors named "Andreas W Schreiber"

34Publications

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Am J Med Genet A 2020 05 6;182(5):1273-1277. Epub 2020 Mar 6.

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

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http://dx.doi.org/10.1002/ajmg.a.61541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217179PMC
May 2020

Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia.

Leukemia 2020 08 19;34(8):2051-2063. Epub 2020 Feb 19.

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

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http://dx.doi.org/10.1038/s41375-020-0751-yDOI Listing
August 2020

A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.

BMC Endocr Disord 2020 Jan 29;20(1):18. Epub 2020 Jan 29.

Endocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, Australia.

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http://dx.doi.org/10.1186/s12902-020-0495-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988286PMC
January 2020

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

J Med Genet 2020 Jul 27;57(7):454-460. Epub 2020 Jan 27.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia

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http://dx.doi.org/10.1136/jmedgenet-2019-106700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7361035PMC
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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http://dx.doi.org/10.1038/s41525-019-0103-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856110PMC
November 2019

The Genomic Landscape of Sporadic Prolactinomas.

Endocr Pathol 2019 Dec;30(4):318-328

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an SA Pathology and University of South Australia Alliance, Adelaide, Australia.

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http://dx.doi.org/10.1007/s12022-019-09587-0DOI Listing
December 2019

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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https://linkinghub.elsevier.com/retrieve/pii/S08968411163034
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http://dx.doi.org/10.1016/j.jaut.2017.03.002DOI Listing
July 2017

BAM-matcher: a tool for rapid NGS sample matching.

Bioinformatics 2016 09 3;32(17):2699-701. Epub 2016 May 3.

ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia, School of Biological Sciences and.

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http://dx.doi.org/10.1093/bioinformatics/btw239DOI Listing
September 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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http://dx.doi.org/10.1182/blood-2015-10-676098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968341PMC
February 2016

Maize maintains growth in response to decreased nitrate supply through a highly dynamic and developmental stage-specific transcriptional response.

Plant Biotechnol J 2016 Jan 2;14(1):342-53. Epub 2015 Jun 2.

School of Agriculture, Food and Wine, Waite Research Institute, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1111/pbi.12388DOI Listing
January 2016

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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http://doi.wiley.com/10.1002/ajmg.a.37075
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http://dx.doi.org/10.1002/ajmg.a.37075DOI Listing
August 2015

The RNA binding protein quaking regulates formation of circRNAs.

Cell 2015 Mar;160(6):1125-34

Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Science, University of Adelaide, Adelaide, SA 5005, Australia; Department of Medicine, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674150017
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http://dx.doi.org/10.1016/j.cell.2015.02.014DOI Listing
March 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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http://dx.doi.org/10.1210/jc.2014-1265DOI Listing
September 2014

Sequencing error correction without a reference genome.

BMC Bioinformatics 2013 Dec 18;14:367. Epub 2013 Dec 18.

Australian Centre for Plant Functional Genomics, The University of Adelaide, Urrbrae, SA 5064, Australia.

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http://dx.doi.org/10.1186/1471-2105-14-367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879328PMC
December 2013

Nutlin-3a efficacy in sarcoma predicted by transcriptomic and epigenetic profiling.

Cancer Res 2014 Feb 13;74(3):921-31. Epub 2013 Dec 13.

Authors' Affiliations: Sarcoma Research Group, Discipline of Medicine, Centre for Personalised Cancer Medicine, Faculty of Health Sciences, School of Molecular and Biomedical Science, Departments of Orthopaedics and Trauma and Haematology, Cancer Clinical Trials Unit, Royal Adelaide Hospital; Department of Surgery, Royal Adelaide Hospital and University of Adelaide; ACRF Cancer Genomics Facility, Centre for Cancer Biology, Division of Tissue Pathology, SA Pathology; Centre for Neurological Diseases, Hanson Institute and SA Pathology; Department of Radiology, Queen Elizabeth Hospital; Department of Haematology and Oncology, Basil Hetzel Institute and Queen Elizabeth Hospital; University of Adelaide, Discipline of Surgery, Basil Hetzel Institute, Adelaide; Sarcoma Genomics and Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Australia; and Department of Medical Oncology, The Royal Melbourne Hospital, Parkville, Australia.

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http://cancerres.aacrjournals.org/content/early/2014/01/23/0
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http://cancerres.aacrjournals.org/content/early/2013/12/13/0
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http://cancerres.aacrjournals.org/cgi/doi/10.1158/0008-5472.
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http://dx.doi.org/10.1158/0008-5472.CAN-13-2424DOI Listing
February 2014

A comparative analysis of algorithms for somatic SNV detection in cancer.

Bioinformatics 2013 Sep 9;29(18):2223-30. Epub 2013 Jul 9.

School of Molecular and Biomedical Science and School of Mathematical Sciences, University of Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1093/bioinformatics/btt375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753564PMC
September 2013

Transcriptome-scale homoeolog-specific transcript assemblies of bread wheat.

BMC Genomics 2012 Sep 19;13:492. Epub 2012 Sep 19.

Australian Centre for Plant Functional Genomics, Univ. of Adelaide, PMB 1 Glen Osmond, SA 5064, Australia.

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http://dx.doi.org/10.1186/1471-2164-13-492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505470PMC
September 2012

Clusters of genes encoding fructan biosynthesizing enzymes in wheat and barley.

Plant Mol Biol 2012 Oct 3;80(3):299-314. Epub 2012 Aug 3.

Australian Centre for Plant Functional Genomics and School of Agriculture, Food and Wine, Waite Research Institute, The University of Adelaide, PMB 1, Glen Osmond 5064, South Australia,

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http://dx.doi.org/10.1007/s11103-012-9949-3DOI Listing
October 2012

Discovery of barley miRNAs through deep sequencing of short reads.

BMC Genomics 2011 Feb 25;12:129. Epub 2011 Feb 25.

Australian Centre for Plant Functional Genomics, the University of Adelaide, South Australia 5064, Australia.

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http://dx.doi.org/10.1186/1471-2164-12-129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060140PMC
February 2011

Comparative transcriptomics in the Triticeae.

BMC Genomics 2009 Jun 29;10:285. Epub 2009 Jun 29.

Australian Centre for Plant Functional Genomics, Univ of Adelaide, PMB 1 Glen Osmond, SA 5064, Australia.

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http://dx.doi.org/10.1186/1471-2164-10-285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2717122PMC
June 2009

Combining transcriptional datasets using the generalized singular value decomposition.

BMC Bioinformatics 2008 Aug 8;9:335. Epub 2008 Aug 8.

Australian Centre for Plant Functional Genomics, School of Agriculture and Wine, University of Adelaide, Waite Campus, Glen Osmond, SA 5064, Australia.

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http://dx.doi.org/10.1186/1471-2105-9-335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562393PMC
August 2008

A framework for gene expression analysis.

Bioinformatics 2007 Jan 21;23(2):191-7. Epub 2006 Nov 21.

Australian Centre for Plant Functional Genomics, Hartley Grove, PMB 1 Waite Campus, The University of Adelaide Glen Osmond 5064, Australia.

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http://bioinformatics.oxfordjournals.org/content/early/2006/
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
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http://dx.doi.org/10.1093/bioinformatics/btl591DOI Listing
January 2007

Comment on "unique translation between Hamiltonian operators and functional integrals".

Phys Rev Lett 2002 Feb 31;88(7):078901. Epub 2002 Jan 31.

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http://dx.doi.org/10.1103/PhysRevLett.88.078901DOI Listing
February 2002