David Mowat

David Mowat

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David Mowat

David Mowat

Publications by authors named "David Mowat"

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

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

Neuromuscul Disord 2019 12 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

Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

Am J Med Genet A 2019 10 19;179(10):2152-2157. Epub 2019 Jul 19.

Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61295DOI Listing
October 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Genetics of neuromuscular fetal akinesia in the genomics era.

J Med Genet 2018 08 29;55(8):505-514. Epub 2018 Jun 29.

Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2018-105266DOI Listing
August 2018

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

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.

Eur J Med Genet 2018 Apr 7;61(4):189-196. Epub 2017 Dec 7.

Institute of Medical Genetics, University of Zurich, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2017.12.002DOI Listing
April 2018

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Neural Plast 2017 28;2017:6509493. Epub 2017 May 28.

Department of Paediatric Neurology, Sydney Children's Hospital, Randwick, NSW, Australia.

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http://dx.doi.org/10.1155/2017/6509493DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467325PMC
March 2018

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review.

Rev Neurosci 2018 03;29(3):295-301

Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia.

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http://dx.doi.org/10.1515/revneuro-2017-0027DOI Listing
March 2018

Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome.

Pediatr Neurol 2017 Nov 26;76:20-26. Epub 2017 May 26.

Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Kensington, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.014DOI Listing
November 2017

Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia.

Clin Case Rep 2017 05 13;5(5):559-566. Epub 2017 Mar 13.

Department of Anatomical Pathology (Seals) Prince of Wales Hospital Sydney New South Wales Australia.

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http://dx.doi.org/10.1002/ccr3.888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412771PMC
May 2017

Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome.

Res Dev Disabil 2017 Mar 13;62:230-237. Epub 2017 Jan 13.

Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg 66421, Germany.

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http://dx.doi.org/10.1016/j.ridd.2017.01.006DOI Listing
March 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review.

J Paediatr Child Health 2016 Jul;52(7):787-8

Department of Anatomical Pathology, Prince of Wales Hospital, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.13191DOI Listing
July 2016

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Hum Mutat 2016 Apr 14;37(4):371-84. Epub 2016 Jan 14.

Eye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.22948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4787201PMC
April 2016

Sleep disturbance in Mowat-Wilson syndrome.

Am J Med Genet A 2016 Mar 21;170(3):654-60. Epub 2015 Dec 21.

Centre for Disability Research and Policy, University of Sydney, and the Brain and Mind Research Institute, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37502DOI Listing
March 2016

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Eur J Med Genet 2016 Feb 22;59(2):70-4. Epub 2015 Dec 22.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

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http://dx.doi.org/10.1016/j.ejmg.2015.12.006DOI Listing
February 2016

Healthy Canada by Design: Translating science into action and prevention.

Authors:
David L Mowat

Can J Public Health 2014 Sep 12;106(1 Suppl 1):eS3-4. Epub 2014 Sep 12.

Peel Region Health Department.

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http://dx.doi.org/10.17269/cjph.106.4720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6972279PMC
September 2014

Agenesis of the corpus callosum: a clinical approach to diagnosis.

Am J Med Genet C Semin Med Genet 2014 Jun 27;166C(2):184-97. Epub 2014 May 27.

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http://dx.doi.org/10.1002/ajmg.c.31405DOI Listing
June 2014

Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

J Pediatr 2014 May 8;164(5):1195-200. Epub 2014 Feb 8.

Department of Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia; The School of Women's and Children's Health, Medicine UNSW, University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2013.12.053DOI Listing
May 2014

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

Am J Med Genet A 2014 Feb 5;164A(2):377-85. Epub 2013 Dec 5.

Department of Medical Genetics, Sydney Children's Hospital, NSW, Australia; School of Women's and Children's Health, The University of NSW, Sydney, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36279DOI Listing
February 2014

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Am J Hum Genet 2014 Feb 23;94(2):209-22. Epub 2014 Jan 23.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928654PMC
February 2014

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Creating an organizational culture for evidence-informed decision making.

Healthc Manage Forum 2012 ;25(3):146-50

Peel Public Health, 7120 Hurontario Street, PO Box 667 RPO Streetsville, Mississauga, Ontario L5M 2C2, Canada.

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http://dx.doi.org/10.1016/j.hcmf.2012.07.005DOI Listing
February 2013

A population-level analysis of birth weight indices in Peel Region, Ontario: the impact of ethnic diversity.

Can J Public Health 2012 Jul 18;103(5):e368-72. Epub 2012 Jul 18.

Health Services, Regional Municipality of Peel, Mississauga, ON.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974107PMC
July 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children.

J Paediatr Child Health 2012 Apr 13;48(4):356-60. Epub 2011 Dec 13.

Sydney Children's Hospital, Randwick, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02236.xDOI Listing
April 2012

The behavioral phenotype of Mowat-Wilson syndrome.

Am J Med Genet A 2012 Feb 13;158A(2):358-66. Epub 2012 Jan 13.

Department of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.34405DOI Listing
February 2012

Chromosome microarray in Australia: a guide for paediatricians.

J Paediatr Child Health 2012 Feb;48(2):E59-67

Department of Medical Genetics, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02081.xDOI Listing
February 2012

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

J Paediatr Child Health 2011 Oct 30;47(10):711-6. Epub 2011 Mar 30.

The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02038.xDOI Listing
October 2011

Overgrowth.

Arch Dis Child 2010 Jun 6;95(6):458-63. Epub 2010 Apr 6.

Department of Endocrinology, Sydney Children's Hospital, High Street, Randwick, Australia.

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http://dx.doi.org/10.1136/adc.2009.157693DOI Listing
June 2010

Duodenal atresia: consider Feingold syndrome.

J Paediatr Child Health 2010 Mar;46(3):136-7

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http://dx.doi.org/10.1111/j.1440-1754.2010.01695.xDOI Listing
March 2010

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

PLoS One 2010 Jan 20;5(1):e8803. Epub 2010 Jan 20.

Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0008803PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808359PMC
January 2010

Canadian medical students' perceptions of public health education in the undergraduate medical curriculum.

Acad Med 2009 Sep;84(9):1307-12

Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1097/ACM.0b013e3181b189b4DOI Listing
September 2009

Assessing Canadian medical students' familiarity with and interest in pursuing a career in community medicine.

Can J Public Health 2009 May-Jun;100(3):194-8

Community Medicine Residency Program, Dalla Lana School of Public Health, University of Toronto, 155 College Street, Toronto, ON M5T 3M7.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974211PMC
July 2009

Developing knowledge translation capacity in public health: the role of the National Collaborating Centres.

Can J Public Health 2007 Jul-Aug;98(4):I-1-12

National Collaborating Centres for Public Health Program, Public Health Agency of Canada.

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October 2007

Public health in Canada: a difficult history.

Healthc Pap 2007 ;7(3):31-6

Public Health Practice and Regional Operations, Public Health Agency of Canada.

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http://dx.doi.org/10.12927/hcpap..18755DOI Listing
May 2007

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Hum Mutat 2007 Apr;28(4):313-21

INSERM, U654, Université Paris 12, IFR10-IM3, AP-HP, Groupe Hospitalier Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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http://doi.wiley.com/10.1002/humu.20452
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http://dx.doi.org/10.1002/humu.20452DOI Listing
April 2007

Introducing the National Collaborating Centres for Public Health.

CMAJ 2006 Aug;175(5):493-4

Office of Public Health Practice, Public Health Agency of Canada, Ottawa, Ont.

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http://dx.doi.org/10.1503/cmaj.060850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1550741PMC
August 2006

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

Am J Med Genet A 2005 Sep;137A(3):302-4

Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30896DOI Listing
September 2005

Three patients with terminal deletions within the subtelomeric region of chromosome 9q.

Am J Med Genet A 2005 Feb;132A(4):425-30

Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.30496
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http://dx.doi.org/10.1002/ajmg.a.30496DOI Listing
February 2005

Developing the public health workforce in Canada: a summary of regional workshops on workforce education and training.

Can J Public Health 2004 May-Jun;95(3):186-7

Centre for Surveillance Coordination, Population and Public Health Branch, 130 Colonnade Road AL6503B, Ottawa, ON K1A 0K9.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976121PMC
June 2004

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

Hum Genet 2002 Aug 6;111(2):198-206. Epub 2002 Jul 6.

INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hôpital Henri Mondor, 94010 Créteil Cedex, France.

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http://dx.doi.org/10.1007/s00439-002-0765-8DOI Listing
August 2002

Building capacity in evidence-based public health practice.

Can J Public Health 2002 Jan-Feb;93(1):19-20

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6980166PMC
April 2002

In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy.

Aust N Z J Obstet Gynaecol 2002 Feb;42(1):79-82

Department of Medical Imaging and Feto-maternal Medicine, Royal Hospital For Women, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.0004-8666.2002.00085.xDOI Listing
February 2002