Joanna Crawford

Joanna Crawford

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Joanna Crawford

Joanna Crawford

Publications by authors named "Joanna Crawford"

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Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Am J Hum Genet 2019 Sep 27. Epub 2019 Sep 27.

Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Amsterdam 1081 HV, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.011DOI Listing
September 2019

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 Mar 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

Leukoencephalopathy due to variants in associated congenital myasthenic syndrome.

Neurology 2019 Feb 11;92(6):e587-e593. Epub 2019 Jan 11.

From the Murdoch Children's Research Institute (G.H., C.S.), Parkville, Melbourne; Institute for Molecular Bioscience (G.H., J.C., C.S.), the University of Queensland, Brisbane, Australia; Neurology Division (S.S., B.P., P.J.), Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India; Division of Neurology (P.J.), Department of Pediatrics, the Hospital for Sick Children, Toronto, Canada; Data61 (S.J.B.), Commonwealth Scientific and Industrial Research Organisation, Brisbane, Australia; Hôpital Marin (J.A.U.), Centre Neuromusculaire, Filnemus, Hendaye, France; Department of Pathology (R.K.S.), G.B. Pant Hospital, New Delhi, India; Illumina, Inc. (R.J.T.), San Diego, CA; Department of Child Neurology (M.S.v.d.K.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience; and Department of Functional Genomics (M.S.v.d.K.), Neuroscience Campus Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000006886DOI Listing
February 2019

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.

Am J Hum Genet 2018 05 26;102(5):816-831. Epub 2018 Apr 26.

Kidney Development, Disease, and Regeneration Group, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183010
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http://dx.doi.org/10.1016/j.ajhg.2018.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986969PMC
May 2018

Identification of miR-29b targets using 3-cyanovinylcarbazole containing mimics.

RNA 2018 04 15;24(4):597-608. Epub 2017 Dec 15.

Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia.

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http://dx.doi.org/10.1261/rna.064923.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855958PMC
April 2018

Universal Alternative Splicing of Noncoding Exons.

Cell Syst 2018 Feb 24;6(2):245-255.e5. Epub 2018 Jan 24.

Garvan Institute of Medical Research, Sydney, NSW, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia; Altius Institute for Biomedical Sciences, Seattle, WA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cels.2017.12.005DOI Listing
February 2018

Writing for Health: Rationale and Protocol for a Randomized Controlled Trial of Internet-Based Benefit-Finding Writing for Adults With Type 1 or Type 2 Diabetes.

JMIR Res Protoc 2017 Mar 14;6(3):e42. Epub 2017 Mar 14.

School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, Australia.

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http://dx.doi.org/10.2196/resprot.7151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373675PMC
March 2017

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.

Am J Med Genet A 2016 10 27;170(10):2694-7. Epub 2016 Jun 27.

Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37803DOI Listing
October 2016

Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing.

Nat Methods 2015 Apr 9;12(4):339-42. Epub 2015 Mar 9.

1] Garvan Institute of Medical Research, Sydney, Australia. [2] St Vincents Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.

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http://dx.doi.org/10.1038/nmeth.3321DOI Listing
April 2015

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

Am J Hum Genet 2015 Apr 26;96(4):675-81. Epub 2015 Mar 26.

Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC 20010, USA; Departments of Integrated Systems Biology and of Pediatrics, George Washington University, Washington, DC 20052, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385183PMC
April 2015

Genome-wide discovery of human splicing branchpoints.

Genome Res 2015 Feb 5;25(2):290-303. Epub 2015 Jan 5.

Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia; St. Vincent's Clinical School, Faculty of Medicine, UNSW Australia, Sydney, New South Wales 2052, Australia;

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http://genome.cshlp.org/lookup/doi/10.1101/gr.182899.114
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http://dx.doi.org/10.1101/gr.182899.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315302PMC
February 2015

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Nat Genet 2015 Jan 24;47(1):73-7. Epub 2014 Nov 24.

1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.

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http://www.nature.com/articles/ng.3153
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http://dx.doi.org/10.1038/ng.3153DOI Listing
January 2015

Targeted sequencing for gene discovery and quantification using RNA CaptureSeq.

Nat Protoc 2014 May 3;9(5):989-1009. Epub 2014 Apr 3.

Garvan Institute of Medical Research, Sydney, New South Wales, Australia.

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http://www.nature.com/articles/nprot.2014.058
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http://dx.doi.org/10.1038/nprot.2014.058DOI Listing
May 2014

Babesia divergens and Neospora caninum apical membrane antigen 1 structures reveal selectivity and plasticity in apicomplexan parasite host cell invasion.

Protein Sci 2013 Jan;22(1):114-27

Department of Biochemistry & Microbiology, University of Victoria, Victoria, British Columbia, V8W 3P6, Canada.

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http://dx.doi.org/10.1002/pro.2193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575866PMC
January 2013

Targeted RNA sequencing reveals the deep complexity of the human transcriptome.

Nat Biotechnol 2011 Nov 13;30(1):99-104. Epub 2011 Nov 13.

Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

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http://dx.doi.org/10.1038/nbt.2024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710462PMC
November 2011

Host cell invasion by apicomplexan parasites: insights from the co-structure of AMA1 with a RON2 peptide.

Science 2011 Jul;333(6041):463-7

Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia V8W 3P6, Canada.

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http://www.sciencemag.org/cgi/doi/10.1126/science.1204988
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http://dx.doi.org/10.1126/science.1204988DOI Listing
July 2011

The melanoma-upregulated long noncoding RNA SPRY4-IT1 modulates apoptosis and invasion.

Cancer Res 2011 Jun 10;71(11):3852-62. Epub 2011 May 10.

Sanford Burnham Medical Research Institute, Orlando, Florida 32827, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-10-4460DOI Listing
June 2011

Does gender influence response to differing psychotherapies by those with unipolar depression?

J Affect Disord 2011 Apr 1;130(1-2):17-20. Epub 2010 Jul 1.

School of Psychiatry, University of New South Wales, Sydney, Australia.

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http://dx.doi.org/10.1016/j.jad.2010.05.020DOI Listing
April 2011

Structure of the micronemal protein 2 A/I domain from Toxoplasma gondii.

Protein Sci 2010 Oct;19(10):1985-90

Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada.

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http://dx.doi.org/10.1002/pro.477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2998732PMC
October 2010

Apicomplexan parasite adhesins: novel strategies for targeting host cell carbohydrates.

Curr Opin Struct Biol 2010 Oct 16;20(5):551-9. Epub 2010 Sep 16.

Department of Biochemistry and Microbiology, University of Victoria, PO Box 3055, STN CSC, Victoria, BC, Canada.

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http://dx.doi.org/10.1016/j.sbi.2010.08.003DOI Listing
October 2010

Structural characterization of apical membrane antigen 1 (AMA1) from Toxoplasma gondii.

J Biol Chem 2010 May 19;285(20):15644-52. Epub 2010 Mar 19.

Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia V8W 3P6, Canada.

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http://dx.doi.org/10.1074/jbc.M109.092619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865318PMC
May 2010

Structural and functional characterization of SporoSAG: a SAG2-related surface antigen from Toxoplasma gondii.

J Biol Chem 2010 Apr 17;285(16):12063-70. Epub 2010 Feb 17.

Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia V8W 3P6, Canada.

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http://dx.doi.org/10.1074/jbc.M109.054866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852944PMC
April 2010

Personality and self-reported treatment effectiveness in depression.

Aust N Z J Psychiatry 2009 Jun;43(6):518-25

Black Dog Institute, Prince of Wales Hospital, Randwick, NSW, Australia.

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http://dx.doi.org/10.1080/00048670902873730DOI Listing
June 2009

Structural characterization of the bradyzoite surface antigen (BSR4) from Toxoplasma gondii, a unique addition to the surface antigen glycoprotein 1-related superfamily.

J Biol Chem 2009 Apr 20;284(14):9192-8. Epub 2009 Jan 20.

Department of Biochemistry & Microbiology, University of Victoria, Victoria, British Columbia V8W 3P6, Canada.

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http://dx.doi.org/10.1074/jbc.M808714200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2666571PMC
April 2009

A spectrum model for depressive conditions: extrapolation of the atypical depression prototype.

J Affect Disord 2007 Nov 16;103(1-3):155-63. Epub 2007 Feb 16.

School of Psychiatry, University of New South Wales, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S016503270700040
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http://dx.doi.org/10.1016/j.jad.2007.01.022DOI Listing
November 2007

Chocolate craving when depressed: a personality marker.

Br J Psychiatry 2007 Oct;191:351-2

Black Dog Institute, Prince of Wales Hospital, Randwick 2031, Sydney, Australia.

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http://dx.doi.org/10.1192/bjp.bp.106.033746DOI Listing
October 2007

Judged effectiveness of differing antidepressant strategies by those with clinical depression.

Aust N Z J Psychiatry 2007 Jan;41(1):32-7

Black Dog Institute, Prince of Wales Hospital, Randwick, NSW 2031, Australia.

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http://dx.doi.org/10.1080/00048670601057726DOI Listing
January 2007

Location and structure of the human FHR-5 gene.

Genetica 2002 Mar;114(2):157-61

Department of Nephrology, St Vincent's Hospital, Fitzroy, Australia.

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http://dx.doi.org/10.1023/a:1015114512924DOI Listing
March 2002

Location and structure of the human FHR-5 gene.

Genetica 2002 Mar;114(2):157-61

Department of Nephrology, St Vincent's Hospital, Fitzroy, Australia.

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http://dx.doi.org/10.1023/a:1015114512924DOI Listing
March 2002