Ryan K C Yuen

Ryan K C Yuen

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Ryan K C Yuen

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Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS.

Biol Psychiatry 2019 Jul 29. Epub 2019 Jul 29.

Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.07.014DOI Listing
July 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Stem Cell Reports 2018 11 1;11(5):1211-1225. Epub 2018 Nov 1.

Genetics & Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 3H7, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711183042
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http://dx.doi.org/10.1016/j.stemcr.2018.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235011PMC
November 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

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Am J Hum Genet 2018 01;102(1):142-155

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5G 0A4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777982PMC
January 2018

Germline and somatic mutations in with diverse neurodevelopmental phenotypes.

Neurol Genet 2017 Dec 18;3(6):e199. Epub 2017 Dec 18.

Mohammed Bin Rashid University of Medicine and Health Sciences (M.U.), Dubai, UAE; The Centre for Applied Genomics (M.U., M.W.), Program in Genetics and Genome Biology (GGB) (A.C., L.B., S.L., G.P., R.K.C.Y., M.F., A.S., B.A.M., S.W.S.), Genome Diagnostics (D.J.S., C.R.M.), Paediatric Laboratory Medicine, Division of Neurosurgery (J.D., B.A.M.), and Division of Neurology (C.D.H.), The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Neuroscience (M.W.), Newcastle University, UK; Department of Molecular Genetics (A.C., S.W.S.), Department of Paediatrics (C.D.H., C.H.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Discipline of Genetics (L.A.T.), Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada; and Division of Neurology (C.B.), BC Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735305PMC
December 2017

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

Nat Neurosci 2017 Apr 6;20(4):602-611. Epub 2017 Mar 6.

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1038/nn.4524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501701PMC
April 2017

Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015.

Psychiatr Genet 2016 12;26(6):229-257

aNeurogenetics Section bCampbell Family Mental Health Research Institute cClinical Genetics Research Program dKrembil Family Epigenetics Laboratory, Centre for Addiction and Mental Health eDepartment of Psychiatry fInstitute of Medical Science gDepartment of Psychology, University of Toronto hFrederick W. Thompson Anxiety Disorders Centre, Department of Psychiatry, Sunnybrook Health Sciences Centre iThe Dalglish Family 22q Clinic jUniversity Health Network kThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto lMolecular Genetics Unit mBiomedical Sciences Division, Department of Biology, University of Ottawa, Ottawa, Ontario, Canada nMax Planck Institute of Psychiatry oInstitute of Psychiatric Phenomics and Genomics, University of Munich, Munich pDepartment of Translational Research in Psychiatry, Institute of Computational Biology, Helmholtz Zentrum München qDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Heidelberg rCharité Universitätsmedizin Berlin, Berlin, Germany sDepartment of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary tSchool of Social Work uDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan vStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, New York wDepartment of Psychiatry, University of Iowa, Iowa City, Iowa xVirginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia yDepartment of Chemistry and Biochemistry zDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA †Department of Nuclear Medicine, Academic Medical Centre, Amsterdam, The Netherlands ‡Institute and Department of Psychiatry, University of São Paulo Medical School, São Paulo §Department of Genetics, Instituto de Biociências ¶ADHD Outpatient Clinic, Hospital de Clínicas de Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil ∥Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden #Department of Psychiatry, University of Calabar Teaching Hospital, Calabar, Nigeria **Human Genomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland ††Department of Psychiatry, Hakkari State Hospital, Turkey ‡‡Department of Genetics, University of Delhi, South Campus, New Delhi §§Molecular Genetics Lab, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India ¶¶Genetics Unit, IRCCS Centro S. Giovanni di Dio, Fatebenefratelli, Brescia, Italy ∥∥Queensland Brain Institute, University of Queensland, St Lucia, Queensland, Australia ##Clinic for Psychiatry, Clinical Center of Serbia, Belgrade, Serbia ***Molecular Psychiatric Laboratory, Division of Psychiatry, University College London, London, UK †††Department of Clinical Medicine, Aarhus University, Aarhus ‡‡‡Psychosis Research Unit, Aarhus University Hospital, Risskov, Denmark §§§Human Genetics Lab, Department of Genetics ¶¶¶Department of Psychiatry, Stellenbosch University, Stellenbosch, South Africa ∥∥∥Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece ###Nagoya University, Nagoya, Japan ****School of Psychology, Shaanxi Normal University, Xi'an, China ††††School of Psychology, National University of Ireland, Galway, Ireland.

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http://dx.doi.org/10.1097/YPG.0000000000000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134913PMC
December 2016

DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.

Cell Rep 2016 11;17(7):1892-1904

Stem Cell and Cancer Research Institute, Faculty of Health Sciences, McMaster University, Hamilton, ON L8N 3Z5, Canada; Department of Biochemistry and Biomedical Sciences, Michael G. DeGroote School of Medicine, Faculty of Health Sciences, McMaster University, Hamilton, ON L8N 3Z5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.10.047DOI Listing
November 2016

Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity.

Mol Hum Reprod 2015 May 19;21(5):452-65. Epub 2015 Feb 19.

Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada

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http://dx.doi.org/10.1093/molehr/gav007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407676PMC
May 2015

Whole-genome sequencing of quartet families with autism spectrum disorder.

Nat Med 2015 Feb 26;21(2):185-91. Epub 2015 Jan 26.

1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/nm.3792DOI Listing
February 2015

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Science 2015 Jan 18;347(6218):1254806. Epub 2014 Dec 18.

Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada. Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada. Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada. Department of Computer Science, University of Toronto, Toronto, Ontario M5S 3G4, Canada. McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada. Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada. eScience Group, Microsoft Research, Redmond, WA 98052, USA.

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http://dx.doi.org/10.1126/science.1254806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362528PMC
January 2015

Synaptic, transcriptional and chromatin genes disrupted in autism.

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

Nat Genet 2014 Jul 25;46(7):742-7. Epub 2014 May 25.

1] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. [3] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ng.2980DOI Listing
July 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.

Fertil Steril 2014 Apr 23;101(4):1079-1085.e3. Epub 2014 Jan 23.

Program in Genetics and Genome Biology, Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2013.12.027DOI Listing
April 2014

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

Nucleic Acids Res 2014 Jan 29;42(Database issue):D986-92. Epub 2013 Oct 29.

The Centre for Applied Genomics, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, Ontario M5G 0A4, Canada, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala SE-751 08, Sweden and Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1093/nar/gkt958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965079PMC
January 2014

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

G3 (Bethesda) 2014 Jan 10;4(1):63-5. Epub 2014 Jan 10.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1534/g3.113.008797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887540PMC
January 2014

Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia.

Mol Hum Reprod 2013 Oct 13;19(10):697-708. Epub 2013 Jun 13.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V5Z 4H4.

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http://dx.doi.org/10.1093/molehr/gat044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779005PMC
October 2013

Hypoxia alters the epigenetic profile in cultured human placental trophoblasts.

Epigenetics 2013 Feb 11;8(2):192-202. Epub 2013 Jan 11.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.4161/epi.23400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3592905PMC
February 2013

Are we ready for DNA methylation-based prenatal testing?

Epigenomics 2011 Aug;3(4):387-90

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http://dx.doi.org/10.2217/epi.11.62DOI Listing
August 2011