Grace Yoon

Summary

Affiliation: University of Toronto
Country: Canada

Publications

  1. doi request reprint Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
    Grace Yoon
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Electronic address
    J Pediatr 171:313-316.e2. 2016
  2. doi request reprint Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort
    G Yoon
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
    Neurogenetics 14:181-8. 2013
  3. pmc Cardiac transplantation in Friedreich ataxia
    Grace Yoon
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    J Child Neurol 27:1193-6. 2012
  4. ncbi request reprint Neurological complications of cardio-facio-cutaneous syndrome
    Grace Yoon
    Department of Pediatrics, Division of Medical Genetics, The Hospital for Sick Children, University of Toronto, Canada
    Dev Med Child Neurol 49:894-9. 2007
  5. doi request reprint Prospective study of activities of daily living outcomes in children with cerebellar atrophy
    Almundher Al-Maawali
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    Dev Med Child Neurol 56:460-7. 2014
  6. doi request reprint Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome
    Elaine Suk Ying Goh
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 158:1579-88. 2012
  7. doi request reprint 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
    Brian H Y Chung
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 155:424-9. 2011
  8. doi request reprint Novel mutation in ARX associated with early hand preference and a mild phenotype
    Ghassan Abu Kuwaik
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    J Dev Behav Pediatr 33:586-8. 2012
  9. doi request reprint A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability
    Rudaina Banihani
    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
    J Dev Behav Pediatr 37:239-44. 2016
  10. doi request reprint Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy
    Elaine Suk Ying Goh
    Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada
    Am J Med Genet A 164:748-52. 2014

Collaborators

Detail Information

Publications25

  1. doi request reprint Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
    Grace Yoon
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Electronic address
    J Pediatr 171:313-316.e2. 2016
    ..DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development. ..
  2. doi request reprint Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort
    G Yoon
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
    Neurogenetics 14:181-8. 2013
    ..Accurate molecular characterization of well-phenotyped cohorts of patients will be essential to establishing the natural history of these rare degenerative disorders to enable future clinical trials. ..
  3. pmc Cardiac transplantation in Friedreich ataxia
    Grace Yoon
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    J Child Neurol 27:1193-6. 2012
    ..We review the ethical issues considered during the process leading to the decision to offer cardiac transplantation...
  4. ncbi request reprint Neurological complications of cardio-facio-cutaneous syndrome
    Grace Yoon
    Department of Pediatrics, Division of Medical Genetics, The Hospital for Sick Children, University of Toronto, Canada
    Dev Med Child Neurol 49:894-9. 2007
    ..Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed...
  5. doi request reprint Prospective study of activities of daily living outcomes in children with cerebellar atrophy
    Almundher Al-Maawali
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    Dev Med Child Neurol 56:460-7. 2014
    ..The aim of this study was to identify clinical and radiological predictors of activities of daily living (ADL) outcomes in children with cerebellar atrophy...
  6. doi request reprint Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome
    Elaine Suk Ying Goh
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 158:1579-88. 2012
    ..285 Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication...
  7. doi request reprint 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
    Brian H Y Chung
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 155:424-9. 2011
    ..Her speech was dysarthric, and she demonstrated repetitive hand movements. In this article, we compare the clinical features of our patient with previously reported cases with a 2q23.1 deletion...
  8. doi request reprint Novel mutation in ARX associated with early hand preference and a mild phenotype
    Ghassan Abu Kuwaik
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    J Dev Behav Pediatr 33:586-8. 2012
    ....
  9. doi request reprint A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability
    Rudaina Banihani
    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
    J Dev Behav Pediatr 37:239-44. 2016
    ..Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy...
  10. doi request reprint Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy
    Elaine Suk Ying Goh
    Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada
    Am J Med Genet A 164:748-52. 2014
    ..To our knowledge, this is the third case of mosaicism involving deletion of the 17p11.2 region and the lowest level of mosaicism reported in a patient with Smith-Magenis syndrome (SMS)...
  11. pmc Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients
    Almundher Al-Maawali
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    J Child Neurol 27:1121-32. 2012
    ..We review the common causes of cerebellar atrophy in childhood and propose a diagnostic approach based on correlating specific neuroimaging patterns with clinical and genetic diagnoses...
  12. doi request reprint Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7
    Heather Trang
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    JAMA Neurol 72:219-23. 2015
    ..We report the first case to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of (CAG)45 expands to lengths as large as (CAG)92-250...
  13. doi request reprint Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling
    Nada Quercia
    Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Canada
    Neuromuscul Disord 20:340-2. 2010
    ..Molecular genetic testing subsequently confirmed the diagnosis of Friedreich ataxia. To our knowledge, this is the first report of Friedreich ataxia presenting as sudden cardiac death in early childhood...
  14. doi request reprint Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features
    Graeme A M Nimmo
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario
    Am J Med Genet A 170:712-6. 2016
    ..We compare the clinical manifestations of our patients with a previously reported patient with triplication of 16p12.2. © 2015 Wiley Periodicals, Inc. ..
  15. doi request reprint Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study
    Ahmed K Bamaga
    Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Neuromuscul Disord 26:201-6. 2016
    ..Genetic testing of RYR1 is indicated for all patients with MH, and anaesthetic precautions should be considered for any child with symptoms of neuromuscular disease. ..
  16. doi request reprint Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation
    Samiah A Al-Zaidy
    Neurology Division, Hospital for Sick Children, Toronto, Canada
    Muscle Nerve 45:752-5. 2012
    ..Congenital muscular dystrophies (CMD) with hypoglycosylated α-dystroglycan due to POMT1 mutations are associated with clinical phenotypes that vary in severity...
  17. pmc Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada
    Orphanet J Rare Dis 10:12. 2015
    ..Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders...
  18. doi request reprint Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
    Almundher A Al-Maawali
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada
    Pediatr Radiol 44:222-5. 2014
    ..Cerebellar and brainstem atrophy have been noted as early as 11 days of life. We present an infant whose typical subcutaneous and retroperitoneal fat deposits were clinically occult, but identified on body MRI. ..
  19. doi request reprint Mosaic microdeletion 18q21 as a cause of mental retardation
    Dimitri J Stavropoulos
    Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada
    Eur J Med Genet 53:396-9. 2010
    ....
  20. doi request reprint Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype
    Arpan R Mehta
    Movement Disorder Clinic, Toronto Western Hospital, University of Toronto, Toronto, Canada
    Mov Disord 26:753-5. 2011
    ..We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C)...
  21. doi request reprint Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6
    Shailly Jain Ghai
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada
    Eur J Med Genet 54:272-6. 2011
    ..We report a patient with a clinical phenotype of severe infantile CS who has a paternally inherited 5 Mb deletion of 10q11.2 resulting in loss of one allele and a previously unreported frameshift mutation of ERCC6 on the maternal allele...
  22. doi request reprint Intermediate-dose idebenone and quality of life in Friedreich ataxia
    John F Brandsema
    Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Canada
    Pediatr Neurol 42:338-42. 2010
    ..Functional ability, as measured by activities of daily living scores, appeared to have the most influence on the perception of physical quality of life, which may be important in planning future therapeutic trials...
  23. doi request reprint Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease
    Elka Miller
    Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Ontario, Canada
    Am J Med Genet A 152:748-52. 2010
    ..The brain MRI appearances in this unique deletion, using newer MR imaging, are described...
  24. doi request reprint Ataxia and pancytopenia caused by a mutation in TINF2
    Elena Tsangaris
    Cell Biology Program, Research Institute, University of Toronto, Toronto, ON, Canada
    Hum Genet 124:507-13. 2008
    ..845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita. We propose that some cases of ataxia-pancytopenia may be affected by DC...
  25. ncbi request reprint Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity
    Matthew R Donaldson
    Department of Human Molecular Biology and Genetics, University of Utah, Salt Lake City, USA
    Ann Med 36:92-7. 2004
    ..Other ATS genes likely share a common pathway or function with Kir2.1 or facilitate the activity of this ion channel. In this review, we explore hypotheses explaining the pathogenesis, expression, and variability of ATS...