Grace Yoon

Grace Yoon

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Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.

J Neurol Sci 2020 Mar 24;410:116642. Epub 2019 Dec 24.

Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.116642DOI Listing
March 2020

Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies.

J Med Genet 2020 01 7;57(1):11-17. Epub 2019 Aug 7.

Department of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec, Canada

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http://dx.doi.org/10.1136/jmedgenet-2019-106102DOI Listing
January 2020

Adult Human Dermal Progenitor Cell Transplantation Modulates the Functional Outcome of Split-Thickness Skin Xenografts.

Stem Cell Reports 2019 12 14;13(6):1068-1082. Epub 2019 Nov 14.

Department of Comparative Biology and Experimental Medicine, Faculty of Veterinary Medicine, University of Calgary, Calgary, AB, Canada; Section of Plastic Surgery, Department of Surgery, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Calgary, AB, Canada; Hotchkiss Brain Institute, Calgary, AB, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2019.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6915850PMC
December 2019

Psychometric properties of the Friedreich Ataxia Rating Scale.

Neurol Genet 2019 Dec 29;5(6):371. Epub 2019 Oct 29.

Clinical Data Science GmbH (C.R.), Basel, Switzerland; Bruce Lefroy Centre for Genetic Health Research (L.A.C., M.B.D.), Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics (L.A.C., M.B.D.), University of Melbourne, Parkville, Victoria, Australia; Department of Neurology (S.H.S.), McKnight Brain Institute, Room, Gainesville, FL; University of Minnesota (K.B.); University of Chicago (C.M.G.); Ohio State University (J.C.H.); Divisions of Neurology and Clinical and Metabolic Genetics (G.Y.), Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada Hospital; University of Rochester (B.R.); University of Iowa (K.D.M.); Emory University (G.W.); University of South Florida (T.Z.); Friedreich's Ataxia Research Alliance (S.P.), Downingtown, PA; and Division of Neurology (D.R.L.), Children's Hospital of Philadelphia.

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http://dx.doi.org/10.1212/NXG.0000000000000371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927357PMC
December 2019

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

Epigenetic age acceleration and metabolic syndrome in the coronary artery risk development in young adults study.

Clin Epigenetics 2019 Nov 15;11(1):160. Epub 2019 Nov 15.

Department of Preventive Medicine and Robert H. Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, 680 N. Lake Shore Dr., Suite 1400, Chicago, IL, 60611, USA.

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http://dx.doi.org/10.1186/s13148-019-0767-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858654PMC
November 2019

Homozygous pathogenic variant in associated with nonprogressive cerebellar ataxia.

Neurol Genet 2019 Oct 4;5(5):e359. Epub 2019 Sep 4.

Division of Neurology (A.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Canada; Department of Genome Dynamics (Z.C., K.W.C., H.H.), Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic; Faculty of Science (Z.C.), Charles University in Prague, Czech Republic; Department of Neuroscience (M.T.), Université de Montréal, CHUM, Montréal, Québec, Canada; Department of Paediatric Laboratory Medicine (L.M.), Hospital for Sick Children; Department of Lab Medicine and Pathobiology (L.M.), University of Toronto, Ontario, Canada; Program in Genetics and Genome Biology (N.S.), SickKids Research Institute, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics (N.S., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; and Genome Damage and Stability Centre (K.W.C., H.H.), School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773431PMC
October 2019

Reply: IREB2-associated neurodegeneration.

Brain 2019 Aug;142(8):e41

Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/brain/awz185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658843PMC
August 2019

Simple Quasi-Bayes Approach for Modeling Mean Medical Costs.

Int J Biostat 2019 Jun 5. Epub 2019 Jun 5.

Department of Health Services Research, MD Anderson Cancer Center, Houston, TX, USA.

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http://dx.doi.org/10.1515/ijb-2018-0122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7020650PMC
June 2019

Microbial Networks in SPRING - Semi-parametric Rank-Based Correlation and Partial Correlation Estimation for Quantitative Microbiome Data.

Front Genet 2019 6;10:516. Epub 2019 Jun 6.

Center for Computational Mathematics, Flatiron Institute, New York, NY, United States.

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http://dx.doi.org/10.3389/fgene.2019.00516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563871PMC
June 2019

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

Brain 2019 05;142(5):1195-1202

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/10.1093/brain/awz072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487337PMC
May 2019

Insurance Stability and Cancer Screening Behaviors.

Health Equity 2019 3;3(1):177-182. Epub 2019 Apr 3.

Department of Internal Medicine, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio.

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https://www.liebertpub.com/doi/10.1089/heq.2018.0093
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http://dx.doi.org/10.1089/heq.2018.0093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608696PMC
April 2019

Epidemiological analysis of pediatric burns in the Dominican Republic reveals a demographic profile at significant risk for electrical burns.

Burns 2019 03 17;45(2):471-478. Epub 2018 Dec 17.

Division of Physical Medicine and Rehabilitation, Departments of Clinical Neurosciences, Pediatrics and Surgery, Faculty of Medicine, University of Calgary, Canada; Calgary Firefighters' Burn Treatment Centre, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03054179183018
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http://dx.doi.org/10.1016/j.burns.2018.03.014DOI Listing
March 2019

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B.

Mol Genet Metab Rep 2019 Mar 20;18:11-13. Epub 2018 Dec 20.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2018.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304431PMC
March 2019

Positron Emission Tomography Imaging with 2-[F]F- p-Aminobenzoic Acid Detects Staphylococcus aureus Infections and Monitors Drug Response.

ACS Infect Dis 2018 11 17;4(11):1635-1644. Epub 2018 Aug 17.

Institute for Chemical Biology & Drug Discovery, Department of Chemistry and Radiology , Stony Brook University , 100 Nicolls Road , 633 Chemistry, Stony Brook , New York 11794 , United States.

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http://dx.doi.org/10.1021/acsinfecdis.8b00182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226330PMC
November 2018

Nonsyndromic cerebellar ataxias associated with disorders of DNA single-strand break repair.

Handb Clin Neurol 2018 ;155:105-115

Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00007-XDOI Listing
October 2018

Patients' Perspectives on Reasons for Unplanned Readmissions.

J Healthc Qual 2019 Jul/Aug;41(4):237-242

Amy M. LeClair, PhD, is a Health Services Researcher and Assistant Professor at the Institute for Clinical Research and Health Policy Studies at Tufts Medical Center, Boston, MA. She is a medical sociologist who uses qualitative and mixed methods to health services research with disadvantaged populations. Megan Sweeney, BS, is a current first-year medical student at Western University of Health Sciences, Pomona, CA. Until 2017, she served as the Executive Assistant to Dr. Saul Weingart, the Chief Medical Officer in the Office of Quality Improvement at Tufts Medical Center. Grace H. Yoon, BA, is a Research Assistant at the Institute for Clinical Research and Health Policy Studies at Tufts Medical Center, Boston, MA. Jana C. Leary, MD, is a pediatrician at Tufts Medical Center and a current post-doctoral fellow at the Sackler School of Graduate Biomedical Sciences, Boston, MA. Her current research focuses on predictors of readmission in the pediatric and medically complex populations. Saul N. Weingart, MD, MPP, PhD, is a Primary Care Physician and the Chief Medical Officer at Tufts Medical Center, Boston, MA. He is a nationally renowned leader in the movement to improve hospital quality and oversees numerous quality improvement projects at the Medical Center. Karen M. Freund, MD, MPH, is a Primary Care Physician and the Vice Chair of Quality Improvement and Faculty Affairs at Tufts Medical Center, Boston, MA. She oversees research projects at the Institute for Clinical Research and Health Policy Studies as the Program Director.

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http://dx.doi.org/10.1097/JHQ.0000000000000160DOI Listing
September 2018

Provider and Staff Feedback on Screening for Social and Behavioral Determinants of Health for Pediatric Patients.

J Am Board Fam Med 2019 May-Jun;32(3):297-306

From the Department of Medicine, Tufts Medical Center; Institute for Clinical Research and Health Policy Studies, Tufts CTSI, Boston, MA (EB); Department of Medicine, Tufts University School of Medicine, Boston (EB); Department of Pediatrics, Boston University School of Medicine, Boston Medical Center, Boston (AG, MP); Department of Health Law Policy & Management, Boston University School of Public Health, Boston (YD, GHY, MPC, M-LD); VA Center for Healthcare Organization and Implementation Research, Department of Veterans Affairs, Boston, MA (MPC); Section of Infectious Diseases, Evans Center for Implementation and Improvement Sciences, Department of Medicine, Boston University School of Medicine, Boston (M-LD).

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http://dx.doi.org/10.3122/jabfm.2019.03.180276DOI Listing
September 2018

Neonatal stroke and haematuria: Questions.

Pediatr Nephrol 2018 05 17;33(5):805-806. Epub 2017 Jul 17.

Division of Nephrology, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s00467-017-3745-xDOI Listing
May 2018

Neonatal stroke and haematuria: Answers.

Pediatr Nephrol 2018 05 17;33(5):807-811. Epub 2017 Jul 17.

Division of Nephrology, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s00467-017-3747-8DOI Listing
May 2018

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

J Child Neurol 2018 05 2;33(6):397-404. Epub 2018 Apr 2.

1 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/10.1177/0883073818764941DOI Listing
May 2018

DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction.

Biochem Genet 2018 Apr 6;56(1-2):56-77. Epub 2017 Nov 6.

Department of Anesthesia and Pain Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada.

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http://dx.doi.org/10.1007/s10528-017-9829-2DOI Listing
April 2018

Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.

Mov Disord 2018 04 13;33(4):656-657. Epub 2018 Feb 13.

Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://doi.wiley.com/10.1002/mds.27320
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http://dx.doi.org/10.1002/mds.27320DOI Listing
April 2018

Burn clinical trials: A systematic review of registration and publications.

Burns 2018 03 21;44(2):263-271. Epub 2017 Nov 21.

Division of Physical Medicine and Rehabilitation, Departments of Clinical Neurosciences, Pediatrics and Surgery, Faculty of Medicine, University of Calgary, Alberta, Canada; Calgary Firefighters' Burn Treatment Centre, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.burns.2017.11.001DOI Listing
March 2018

Response to phenotypic hetergeneity of POMT2 variants.

Am J Med Genet A 2018 Mar 25;176(3):746-747. Epub 2018 Jan 25.

Medical Genetics, Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38591DOI Listing
March 2018

Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism.

Mov Disord 2017 12 30;32(12):1792-1794. Epub 2017 Oct 30.

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

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http://dx.doi.org/10.1002/mds.27188DOI Listing
December 2017

Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.

Muscle Nerve 2017 11 18;56(5):E41-E44. Epub 2017 Jul 18.

Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mus.25737DOI Listing
November 2017

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

Am J Med Genet A 2017 Nov 5;173(11):3082-3086. Epub 2017 Oct 5.

Division of Medical Genetics, Department of Pediatrics, Kingston General Hospital, Queen's University, Kingston, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38394DOI Listing
November 2017

Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

Ann Clin Transl Neurol 2017 09 26;4(9):622-631. Epub 2017 Jul 26.

Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania 19104.

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http://dx.doi.org/10.1002/acn3.439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590524PMC
September 2017

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Neuromuscul Disord 2017 Jun 8;27(6):574-580. Epub 2017 Feb 8.

Division of Neurology, Department of Paediatrics, 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, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.001DOI Listing
June 2017

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

Eur J Hum Genet 2017 06 5;25(6):775-778. Epub 2017 Apr 5.

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

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http://dx.doi.org/10.1038/ejhg.2017.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477367PMC
June 2017

Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.

J Interferon Cytokine Res 2017 04 17;37(4):147-152. Epub 2017 Feb 17.

1 Toronto General Research Institute, University Health Network , Toronto, Ontario, Canada .

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http://dx.doi.org/10.1089/jir.2016.0117DOI Listing
April 2017

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Neurol Genet 2017 Feb 5;3(1):e122. Epub 2016 Dec 5.

Division of Neurology (N.C., G.Y.), Division of Clinical and Metabolic Genetics (S. Ahmed, H.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children; Faculty of Medicine (N.C., N.D., J.-D.B., K.M.-A.), Laval University, Quebec City; Department of Neurological Sciences (N.D., P.P.), CHU de Québec; Department of Neurology and Neurosurgery (Z.G.-O., N.M., P.A.D., G.A.R.), McGill University, Montreal Neurological Institute, Quebec; Department of Medical Genetics (A.S.), University of Montreal, CHUM, Quebec; The Hospital for Sick Children Research Institute (S.C.), Child Health Evaluative Sciences/Biostatistics Design & Analysis Unit, Toronto, Ontario; Department of Medicine (A.V., O.S.), Division of Neurology, Department of Medical Genetics (S. Ashtiani, O.S.), University of Alberta, Edmonton; Department of Genetics (J.W.-C., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa; CHU de Québec (K.M.-A.), Hôpital Enfant-Jésus, Quebec City; Department of Paediatric Laboratory Medicine (D.J.S., P.N.R.), The Hospital for Sick Children, Toronto, Ontario; and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141523PMC
February 2017

KCNA2 mutations are rare in hereditary spastic paraplegia.

Ann Neurol 2017 02;81(2):325-326

Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec.

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http://dx.doi.org/10.1002/ana.24855DOI Listing
February 2017

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.

Neurogenetics 2016 10 8;17(4):245-249. Epub 2016 Jun 8.

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

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http://dx.doi.org/10.1007/s10048-016-0486-0DOI Listing
October 2016

Progression of Friedreich ataxia: quantitative characterization over 5 years.

Ann Clin Transl Neurol 2016 09 25;3(9):684-94. Epub 2016 Jul 25.

Departments of Pediatrics and Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania; Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania.

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http://dx.doi.org/10.1002/acn3.332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018581PMC
September 2016

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

J Child Neurol 2016 08 12;31(9):1161-5. Epub 2016 Apr 12.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

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http://dx.doi.org/10.1177/0883073816643408DOI Listing
August 2016

The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach.

Neuroimaging Clin N Am 2016 Aug;26(3):373-416

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.nic.2016.03.007DOI Listing
August 2016

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

J Pediatr 2016 Apr 26;171:313-6.e1-2. Epub 2016 Jan 26.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2015.12.060DOI Listing
April 2016

A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

J Dev Behav Pediatr 2016 Apr;37(3):239-44

*Division of Developmental Paediatrics, Department of Paediatrics, University of Toronto, Toronto, ON, Canada; †Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada; ‡Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; §Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ‖Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ¶Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada; **Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/DBP.0000000000000262DOI Listing
April 2016

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.

Am J Med Genet A 2016 Mar 8;170(3):712-6. Epub 2015 Dec 8.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario.

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http://dx.doi.org/10.1002/ajmg.a.37483DOI Listing
March 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Brain 2016 Mar 10;139(Pt 3):e20. Epub 2015 Dec 10.

4 Department of Paediatric and Adolescent Medicine and Mayo Clinic Children's Centre, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1093/brain/awv363DOI Listing
March 2016

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.

Neuromuscul Disord 2016 Mar 23;26(3):201-6. Epub 2016 Feb 23.

Division of Neurology, Department of Paediatrics, 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. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.02.007DOI Listing
March 2016

"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.

J Genet Couns 2015 Oct 17;24(5):732-43. Epub 2015 Jan 17.

Murdoch Childrens Research Institute, Flemington Road, Parkville, VIC, Australia.

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http://link.springer.com/10.1007/s10897-014-9801-9
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http://dx.doi.org/10.1007/s10897-014-9801-9DOI Listing
October 2015

Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.

J Child Neurol 2015 Oct 6;30(11):1472-82. Epub 2015 Feb 6.

Department of Paediatrics, Division of Developmental Paediatrics, University of Toronto, Toronto, ON, Canada Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada

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http://dx.doi.org/10.1177/0883073815570154DOI Listing
October 2015

Frataxin levels in peripheral tissue in Friedreich ataxia.

Ann Clin Transl Neurol 2015 Aug 1;2(8):831-42. Epub 2015 Jul 1.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104.

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http://dx.doi.org/10.1002/acn3.225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554444PMC
August 2015

Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.

JAMA Neurol 2015 Feb;72(2):219-23

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada5Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jamaneurol.2014.1902DOI Listing
February 2015

Prospective study of activities of daily living outcomes in children with cerebellar atrophy.

Dev Med Child Neurol 2014 May 1;56(5):460-7. Epub 2013 Oct 1.

Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://doi.wiley.com/10.1111/dmcn.12289
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http://dx.doi.org/10.1111/dmcn.12289DOI Listing
May 2014

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.

Am J Med Genet A 2014 Mar 19;164A(3):748-52. Epub 2013 Dec 19.

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

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http://dx.doi.org/10.1002/ajmg.a.36322DOI Listing
March 2014

Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).

Pediatr Radiol 2014 Feb 15;44(2):222-5. Epub 2013 Sep 15.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1007/s00247-013-2782-2DOI Listing
February 2014

Cardiac transplantation in Friedreich ataxia.

J Child Neurol 2012 Sep 29;27(9):1193-6. Epub 2012 Jun 29.

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

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http://dx.doi.org/10.1177/0883073812448229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671892PMC
September 2012

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

J Child Neurol 2012 Sep 4;27(9):1121-32. Epub 2012 Jul 4.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1177/0883073812448680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743560PMC
September 2012

Novel mutation in ARX associated with early hand preference and a mild phenotype.

J Dev Behav Pediatr 2012 Sep;33(7):586-8

Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/DBP.0b013e31825e2310DOI Listing
September 2012

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Am J Med Genet A 2012 Jul 25;158A(7):1579-88. Epub 2012 May 25.

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

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http://dx.doi.org/10.1002/ajmg.a.35399DOI Listing
July 2012

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Muscle Nerve 2012 May;45(5):752-5

Neurology Division, Hospital for Sick Children, Toronto, Canada.

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http://doi.wiley.com/10.1002/mus.23274
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May 2012

Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.

Eur J Med Genet 2011 May-Jun;54(3):272-6. Epub 2011 Mar 2.

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

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http://linkinghub.elsevier.com/retrieve/pii/S176972121100026
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http://dx.doi.org/10.1016/j.ejmg.2011.02.008DOI Listing
September 2011

Mosaic microdeletion 18q21 as a cause of mental retardation.

Eur J Med Genet 2010 Nov-Dec;53(6):396-9. Epub 2010 Sep 21.

Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2010.08.005DOI Listing
June 2011

A population-based study of dystrophin mutations in Canada.

Can J Neurol Sci 2011 May;38(3):465-74

Division of Neurology, Department of Paediatrics, University of Calgary, Alberta Children's Hospital, Calgary.

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http://dx.doi.org/10.1017/s0317167100011896DOI Listing
May 2011

Symptomatic dystrophinopathies in female children.

Neuromuscul Disord 2011 Mar 24;21(3):172-7. Epub 2010 Dec 24.

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

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http://dx.doi.org/10.1016/j.nmd.2010.11.001DOI Listing
March 2011

Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype.

Mov Disord 2011 Mar 21;26(4):753-5. Epub 2011 Jan 21.

Movement Disorder Clinic, Toronto Western Hospital, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/mds.23510DOI Listing
March 2011

Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.

J Clin Neuromuscul Dis 2011 Mar;12(3):143-6

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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https://insights.ovid.com/crossref?an=00131402-201103000-000
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http://dx.doi.org/10.1097/CND.0b013e318209efc6DOI Listing
March 2011

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

Am J Med Genet A 2011 Feb;155A(2):424-9

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

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http://dx.doi.org/10.1002/ajmg.a.33821DOI Listing
February 2011

Childhood-onset CADASIL: clinical, imaging, and neurocognitive features.

J Child Neurol 2010 May 1;25(5):623-7. Epub 2010 Mar 1.

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

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http://dx.doi.org/10.1177/0883073810361382DOI Listing
May 2010

Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling.

Neuromuscul Disord 2010 May 24;20(5):340-2. Epub 2010 Mar 24.

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

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https://linkinghub.elsevier.com/retrieve/pii/S09608966100009
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http://dx.doi.org/10.1016/j.nmd.2010.02.019DOI Listing
May 2010

Intermediate-dose idebenone and quality of life in Friedreich ataxia.

Pediatr Neurol 2010 May;42(5):338-42

Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.01.004DOI Listing
May 2010

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.

Neuromuscul Disord 2010 Apr 19;20(4):238-40. Epub 2010 Mar 19.

Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.nmd.2010.01.011DOI Listing
April 2010

Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.

Am J Med Genet A 2010 Mar;152A(3):748-52

Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33305DOI Listing
March 2010

A case report of prenatal exposure to rosuvastatin and telmisartan.

Paediatr Child Health 2009 Sep;14(7):450-2

Division of Clinical and Metabolic Genetics;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786950PMC
September 2009

Ataxia and pancytopenia caused by a mutation in TINF2.

Hum Genet 2008 Dec 1;124(5):507-13. Epub 2008 Nov 1.

Cell Biology Program, Research Institute, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s00439-008-0576-7DOI Listing
December 2008

Stepwise developmental regression associated with novel CACNA1A mutation.

Pediatr Neurol 2008 Nov;39(5):363-4

Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.07.030DOI Listing
November 2008