Leigh B Waddell

Leigh B Waddell

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Leigh B Waddell

Leigh B Waddell

Publications by authors named "Leigh B Waddell"

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27Publications

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Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

Neuromuscul Disord 2019 Dec 25;29(12):913-919. Epub 2019 Sep 25.

Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales 2145, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.09.013DOI Listing
December 2019

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Am J Hum Genet 2019 Sep 22;105(3):573-587. Epub 2019 Aug 22.

Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; The Children's Medical Research Institute, 214 Hawkesbury Road, Sydney, NSW 2145, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731365PMC
September 2019

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Neuromuscul Disord 2016 08 24;26(8):500-3. Epub 2016 May 24.

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW 2006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.05.013DOI Listing
August 2016

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

JAMA Neurol 2015 Dec;72(12):1424-32

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia2Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales.

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http://dx.doi.org/10.1001/jamaneurol.2015.2274DOI Listing
December 2015

Mutations in TPM2 and congenital fibre type disproportion.

Neuromuscul Disord 2012 Nov 24;22(11):955-8. Epub 2012 Jul 24.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2012.06.002DOI Listing
November 2012

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Neuromuscul Disord 2011 Nov 17;21(11):776-81. Epub 2011 Jun 17.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2011.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210217PMC
November 2011

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.

Muscle Nerve 2011 Aug;44(2):280-2

Institute for Neuroscience and Muscle Research, Discipline of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Locked Bag 4001, Westmead, New South Wales 2145, Australia.

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http://doi.wiley.com/10.1002/mus.22118
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http://dx.doi.org/10.1002/mus.22118DOI Listing
August 2011

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Muscle Nerve 2011 Jul;44(1):135-41

Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1002/mus.22076DOI Listing
July 2011

GATA4 mutations in 357 unrelated patients with congenital heart malformation.

Genet Test Mol Biomarkers 2010 Dec 27;14(6):797-802. Epub 2010 Sep 27.

Heart Centre for Children, The Children's Hospital at Westmead, Westmead, Australia.

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http://dx.doi.org/10.1089/gtmb.2010.0028DOI Listing
December 2010

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Neuromuscul Disord 2010 Jul 15;20(7):464-6. Epub 2010 Jun 15.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966100023
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http://dx.doi.org/10.1016/j.nmd.2010.05.012DOI Listing
July 2010