Publications by authors named "Victoria Siu"

55Publications

A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis.

Am J Med Genet A 2020 Oct 17;182(10):2284-2290. Epub 2020 Aug 17.

Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61780DOI Listing
October 2020

Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report.

BMC Pediatr 2020 Jun 26;20(1):311. Epub 2020 Jun 26.

Department of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, 1151 Richmond Street, London, ON, N6A5C1, Canada.

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http://dx.doi.org/10.1186/s12887-020-02214-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318402PMC
June 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

Am J Hum Genet 2020 01 26;106(1):129-136. Epub 2019 Dec 26.

Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia; Faculty of Science, University of New South Wales, Sydney, NSW 2052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042491PMC
January 2020

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Am J Med Genet A 2019 03 16;179(3):386-396. Epub 2019 Jan 16.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61025DOI Listing
March 2019

Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients.

Front Genet 2018 19;9:635. Epub 2018 Dec 19.

Regenerative Medicine Program, and Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.

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http://dx.doi.org/10.3389/fgene.2018.00635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305968PMC
December 2018

Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.

Can J Neurol Sci 2018 03;45(2):150-157

3Department of Medicine (Geriatric Medicine and Neurology),Dalhousie University,Halifax,Nova Scotia,Canada.

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http://dx.doi.org/10.1017/cjn.2017.261DOI Listing
March 2018

Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.

J Med Genet 2018 02 19;55(2):86-88. Epub 2017 Aug 19.

Department of Medical Genetics, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2017-104924DOI Listing
February 2018

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.

J Mol Diagn 2017 11 12;19(6):848-856. Epub 2017 Aug 12.

Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2017.07.002DOI Listing
November 2017

The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.

Biochemistry 2017 07 7;56(28):3619-3631. Epub 2017 Jul 7.

Department of Biochemistry, University of Vermont , Burlington, Vermont 05405, United States.

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http://dx.doi.org/10.1021/acs.biochem.7b00114DOI Listing
July 2017

Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.

J Pediatr Genet 2017 Mar 8;6(1):30-41. Epub 2016 Nov 8.

Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; London Regional Cancer Program, London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, London, Ontario, Canada.

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http://dx.doi.org/10.1055/s-0036-1593849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288004PMC
March 2017

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

J Med Genet 2015 Oct 5;52(10):666-75. Epub 2015 Aug 5.

Robarts Research Institute, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2015-103279DOI Listing
October 2015

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Am J Med Genet A 2015 Sep 6;167A(9):2098-102. Epub 2015 May 6.

Division of Clinical and Metabolics Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.37134
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37134DOI Listing
September 2015

A fourth case of Feingold syndrome type 2: psychiatric presentation and management.

BMJ Case Rep 2014 Nov 12;2014. Epub 2014 Nov 12.

Brain and Mind Institute, University of Western Ontario, London, Ontario, Canada Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1136/bcr-2014-207501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244445PMC
November 2014

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

Epilepsia 2014 Sep 24;55(9):e106-11. Epub 2014 Jul 24.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1111/epi.12730DOI Listing
September 2014

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.

Mol Genet Genomic Med 2014 Jan 18;2(1):73-80. Epub 2013 Nov 18.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University London, Ontario, N6A 5K8, Canada ; Department of Biochemistry Schulich School of Medicine and Dentistry, Western University London, Ontario, N6A 5C1, Canada.

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http://dx.doi.org/10.1002/mgg3.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907916PMC
January 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Congenital myotonic dystrophy: Canadian population-based surveillance study.

J Pediatr 2013 Jul 14;163(1):120-5.e1-3. Epub 2013 Feb 14.

Department of Pediatrics, Shulich School of Medicine, London Health Sciences Center, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2012.12.070DOI Listing
July 2013

Neurofibromatosis and velopharyngeal insufficiency: is there an association?

J Otolaryngol Head Neck Surg 2012 Feb;41(1):58-64

Department of Otolaryngology-Head and Neck Surgery, London Health Sciences Centre–Victoria Hospital, London, ON N6A 5W9.

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February 2012

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Am J Med Genet A 2012 May 11;158A(5):1229-32. Epub 2012 Apr 11.

Department of Medical Genetics, Alberta Children's Hospital and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247856PMC
May 2012

Amish, mennonite, and hutterite genetic disorder database.

Paediatr Child Health 2011 Mar;16(3):e23-4

Schulich School of Medicine and Dentistry;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077314PMC
http://dx.doi.org/10.1093/pch/16.3.e23DOI Listing
March 2011

Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.

Congenit Heart Dis 2013 Mar-Apr;8(2):E36-40. Epub 2011 Dec 16.

Department of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.

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http://doi.wiley.com/10.1111/j.1747-0803.2011.00602.x
Publisher Site
http://dx.doi.org/10.1111/j.1747-0803.2011.00602.xDOI Listing
September 2013

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.

Am J Med Genet A 2011 Jul 10;155A(7):1685-9. Epub 2011 Jun 10.

Manchester Biomedical Research Centre, MAHSC, St Mary's Hospital, UK.

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http://dx.doi.org/10.1002/ajmg.a.34055DOI Listing
July 2011

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Am J Med Genet A 2010 Jul;152A(7):1641-53

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.33441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133091PMC
July 2010

Amish microcephaly: Long-term survival and biochemical characterization.

Am J Med Genet A 2010 Jul;152A(7):1747-51

Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33373DOI Listing
July 2010

Unusual 8p inverted duplication deletion with telomere capture from 8q.

Eur J Med Genet 2009 Jan-Feb;52(1):31-6. Epub 2008 Nov 17.

Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2008.10.007DOI Listing
April 2009

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.

Neuromuscul Disord 2008 Jul 30;18(7):579-82. Epub 2008 Jun 30.

Department of Clinical Neurosciences, Foothills Medical Centre, Heritage Medical Research Building, 182A-3330 Hospital Drive NW, Calgary, Alta., Canada T2N 4N1.

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http://dx.doi.org/10.1016/j.nmd.2008.03.011DOI Listing
July 2008

Bilateral complete isolated cryptophthalmos: a case report.

Ophthalmic Genet 2005 Dec;26(4):185-9

University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1080/13816810500374557DOI Listing
December 2005