Sarah Bowdin

Sarah Bowdin

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Sarah Bowdin

Sarah Bowdin

Publications by authors named "Sarah Bowdin"

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Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis.

ERJ Open Res 2019 Apr 26;5(2). Epub 2019 Apr 26.

Dept of Paediatrics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1183/23120541.00205-2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484094PMC
April 2019

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

Eur J Med Genet 2018 Mar 10;61(3):125-129. Epub 2017 Nov 10.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.002DOI Listing
March 2018

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

CMAJ 2018 02;190(5):E126-E136

The Centre for Applied Genomics (Reuter, Walker, Thiruvahindrapuram, Whitney, Yuen, Trost, Paton, Pereira, Herbrick, Wintle, Merico, Howe, MacDonald, Lu, Nalpathamkalam, Sung, Wang, Patel, Pellecchia, J. Wei, Strug, Bell, Kellam, Mahtani, Hosseini, Fiume, Marshall, Buchanan, Scherer); Divisions of Clinical Pharmacology and Toxicology (I. Cohn), or Clinical, and Metabolic Genetics (Sondheimer, Weksberg, Shuman, Bowdin, Meyn, Monfared), The Hospital for Sick Children; Departments of Paediatrics (Sondheimer, R. Cohn) and Molecular Genetics (Yuen, Weksberg, Shuman, R. Cohn, Ellis, Meyn), University of Toronto; Deep Genomics Inc. (Merico); Department of Psychiatry (Bassett), University Health Network and Centre for Addiction and Mental Health, University of Toronto; Li Ka Shing Knowledge Institute (Bombard), St. Michael's Hospital; Institute of Health Policy, Management and Evaluation (Bombard), University of Toronto; Centre for Genetic Medicine (Stavropoulos, Bowdin, Ray, Monfared); Molecular Genetics Laboratory (Stavropoulos, Ray, Marshall), Division of Genome Diagnostics, Paediatric Laboratory Medicine; Developmental and Stem Cell Biology (Hildebrandt, W. Wei, Romm, Pasceri, Ellis); Ted Rogers Cardiac Genome Clinic (Hosseini); Cytogenetics Laboratory (Joseph-George), Division of Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children; Departments of Biochemistry and Laboratory Medicine, and Pathobiology (Keeley), University of Toronto; DNAstack (Cook, Fiume); McLaughlin Centre (Lee, Scherer), University of Toronto; Medcan Health Management Inc. (Davies, Hazell); Dalla Lana School of Public Health (Szego), Department of Family and Community Medicine, and The Joint Centre for Bioethics, University of Toronto; Centre for Clinical Ethics (Szego), St. Joseph's Health Centre, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.171151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798982PMC
February 2018

Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease.

Circ Cardiovasc Genet 2017 06;10(3)

From the Division of Cardiology, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001581DOI Listing
June 2017

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

NPJ Genom Med 2017 26;2:19. Epub 2017 May 26.

Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada M5G 1X8.

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http://dx.doi.org/10.1038/s41525-017-0021-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677914PMC
May 2017

FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

Am J Med Genet A 2016 12 2;170(12):3215-3221. Epub 2016 Aug 2.

Faculty of Dentistry, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503117PMC
December 2016

The clinical utility of next-generation sequencing in the neonatal intensive care unit.

Authors:
Sarah C Bowdin

CMAJ 2016 08 30;188(11):786-787. Epub 2016 May 30.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.160490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978569PMC
August 2016

Genetic Testing in Thoracic Aortic Disease--When, Why, and How?

Can J Cardiol 2016 Jan 30;32(1):131-4. Epub 2015 Sep 30.

Centre for Medical Genetics, University Hospital of Antwerp/University of Antwerp, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.cjca.2015.09.018DOI Listing
January 2016

Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada.

Can J Cardiol 2016 Jan 22;32(1):8-12. Epub 2015 Oct 22.

Division of Cardiology, Department of Paediatrics, The Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.cjca.2015.10.003DOI Listing
January 2016

The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection.

Can J Cardiol 2016 Jan 14;32(1):86-99. Epub 2015 Nov 14.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1016/j.cjca.2015.11.007DOI Listing
January 2016

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Am J Med Genet A 2015 Nov 22;167A(11):2544-7. Epub 2015 Jun 22.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37218DOI Listing
November 2015

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Orphanet J Rare Dis 2015 Sep 30;10:128. Epub 2015 Sep 30.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA.

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http://dx.doi.org/10.1186/s13023-015-0345-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589207PMC
September 2015

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Ann Neurol 2014 Nov 4;76(5):758-64. Epub 2014 Oct 4.

Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Anatomical Pathology and Cytopathology, Calgary Laboratory Services, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ana.24274DOI Listing
November 2014

Danon Disease Due to a Novel LAMP2 Microduplication.

JIMD Rep 2014 13;14:11-6. Epub 2013 Nov 13.

Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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http://dx.doi.org/10.1007/8904_2013_277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213339PMC
October 2014

Predictive genomic testing of children for adult onset disorders: a Canadian perspective.

Am J Bioeth 2014 ;14(3):19-21

a St. Joseph's Health Centre , The Hospital for Sick Children, and University of Toronto.

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http://dx.doi.org/10.1080/15265161.2013.879960DOI Listing
October 2014

Loeys-Dietz syndrome: a primer for diagnosis and management.

Genet Med 2014 Aug 27;16(8):576-87. Epub 2014 Feb 27.

1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131122PMC
August 2014

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

Hum Mutat 2014 May 7;35(5):513-9. Epub 2014 Apr 7.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22536DOI Listing
May 2014

Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?

J Pediatr Hematol Oncol 2014 Apr;36(3):e193-6

*Department of Paediatrics, Division of Haematology/Oncology ‡Division of Molecular Genetics §Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada †Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore, Singapore.

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http://dx.doi.org/10.1097/MPH.0b013e3182a8f25dDOI Listing
April 2014

PhenoTips: patient phenotyping software for clinical and research use.

Hum Mutat 2013 Aug 24;34(8):1057-65. Epub 2013 May 24.

Department of Computer Science, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22347DOI Listing
August 2013

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies.

Eur J Med Genet 2012 Nov 3;55(11):605-10. Epub 2012 Aug 3.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ejmg.2012.07.010DOI Listing
November 2012

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.

BMC Med Genet 2011 Sep 23;12:122. Epub 2011 Sep 23.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-12-122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192734PMC
September 2011

Mosaic trisomy 1q: The longest surviving case.

Am J Med Genet A 2009 Aug;149A(8):1795-800

Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.32959DOI Listing
August 2009

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Hum Reprod 2009 Mar 10;24(3):741-7. Epub 2008 Dec 10.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham B15 2TT, UK.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/den406DOI Listing
March 2009

Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.

Am J Med Genet B Neuropsychiatr Genet 2008 Oct;147B(7):1295-7

Bute Medical School, University of St. Andrews, St. Andrews, Scotland, UK.

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http://dx.doi.org/10.1002/ajmg.b.30729DOI Listing
October 2008

A survey of assisted reproductive technology births and imprinting disorders.

Hum Reprod 2007 Dec 5;22(12):3237-40. Epub 2007 Oct 5.

Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/dem268DOI Listing
December 2007

Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.

Clin Dysmorphol 2007 Jan;16(1):21-5

Clinical Genetics Unit, West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK.

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https://insights.ovid.com/crossref?an=00019605-200701000-000
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http://dx.doi.org/10.1097/01.mcd.0000228426.97284.ffDOI Listing
January 2007

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.

Eur J Hum Genet 2005 Sep;13(9):1025-32

1Medical and Molecular Genetics Section, Institute of Biomedical Research, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201463DOI Listing
September 2005