Grace Yoon

Summary

Affiliation: University of Toronto
Country: Canada

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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. ncbi 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
  9. ncbi 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
  10. ncbi 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

Collaborators

  • Paul F Kantor
  • Stephen W Scherer
  • Elka Miller
  • Inderjeet Dokal
  • Gino R Somers
  • Peter Lansdorp
  • Katherine A Rauen
  • Rosanna Weksberg
  • Ghassan Abu Kuwaik
  • Almundher Al-Maawali
  • Elaine Suk Ying Goh
  • Mary Shago
  • Brian H Y Chung
  • Arpan R Mehta
  • Shailly Jain Ghai
  • Yigal Dror
  • John F Brandsema
  • Dimitri J Stavropoulos
  • Nada Quercia
  • David Chitayat
  • Elena Tsangaris
  • Matthew R Donaldson
  • Cesar P Canales
  • Ron Agatep
  • Roberto Mendoza-Londono
  • Irene C Perez
  • Phillip Ruiz
  • Susan Blaser
  • Michael Sgro
  • Juan Sebastian Saldivar
  • Katherina Walz
  • Sharan Goobie
  • Susan H Fox
  • James Stavropoulos
  • Mark Tarnopolsky
  • Manohar Shroff
  • Christian R Marshall
  • Daune L MacGregor
  • Jessica Hartley
  • William Halliday
  • Derek Stephens
  • Brenda Banwell
  • Sally Lin Adams
  • Louis J Ptacek
  • Ying-Hui Fu
  • Ying Hui Fu

Detail Information

Publications14

  1. ncbi 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...
  2. ncbi 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...
  3. ncbi 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
    ....
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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. ncbi 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
    ....
  9. ncbi 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...
  10. ncbi 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)...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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...
  14. ncbi 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...