Jonathan Robert Skinner

Summary

Country: New Zealand

Publications

  1. ncbi Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy
    J R Skinner
    Department of Paediatric Cardiology, Starship Hospital, Auckland, New Zealand
    J Paediatr Child Health 40:651-3. 2004
  2. ncbi Coinheritance of long QT syndrome and Kearns-Sayre syndrome
    Jonathan R Skinner
    Green Lane Paediatric and Congenital Cardiac Services, Starship Hospital, Auckland, New Zealand
    Heart Rhythm 4:1568-72. 2007
  3. ncbi Transposition of the great arteries: from fetus to adult
    Jon Skinner
    Pediatric Cardiology Department, Starship Children's Hospital, Private Bag 92 024, Auckland, New Zealand
    Heart 94:1227-35. 2008
  4. ncbi Detection and management of life threatening arrhythmias in the perinatal period
    Jonathan R Skinner
    Green Lane Paediatric and Congenital Cardiac Services, Starship Hospital, Grafton, Auckland, New Zealand
    Early Hum Dev 84:161-72. 2008
  5. ncbi Brugada syndrome masquerading as febrile seizures
    Jonathan Robert Skinner
    Greenlane Paediatric and Congenital Cardiac Services, Starship Children s Hospital, Grafton, Auckland, New Zealand
    Pediatrics 119:e1206-11. 2007
  6. ncbi Guidelines for the diagnosis and management of familial long QT syndrome
    Jon R Skinner
    Department of Paediatric Cardiology, Starship Hospital Park Road, Grafton, Auckland 1001, New Zealand
    Heart Lung Circ 16:22-4. 2007
  7. ncbi Near-miss SIDS due to Brugada syndrome
    J R Skinner
    Department of Paediatric Cardiology, Starship Hospital, Grafton, Auckland, New Zealand
    Arch Dis Child 90:528-9. 2005
  8. ncbi Is there a relation between SIDS and long QT syndrome?
    J R Skinner
    Starship Children's Hospital, Park Road, Auckland, New Zealand
    Arch Dis Child 90:445-9. 2005
  9. ncbi Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
    Jonathan R Skinner
    Greenlane Paediatric and Congenital Cardiac Services, Starship Childrens Hospital, Auckland, New Zealand
    Heart Rhythm 8:412-9. 2011
  10. ncbi Posthumous diagnosis of long QT syndrome from neonatal screening cards
    P A Gladding
    Cardiac Inherited Diseases Group, Auckland City Hospital Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 7:481-6. 2010

Collaborators

Detail Information

Publications11

  1. ncbi Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy
    J R Skinner
    Department of Paediatric Cardiology, Starship Hospital, Auckland, New Zealand
    J Paediatr Child Health 40:651-3. 2004
    ..The same mutation was found in the mother (who now takes effective preventative therapy), but not in the sib who has now been reassured that she is not at risk of sudden death...
  2. ncbi Coinheritance of long QT syndrome and Kearns-Sayre syndrome
    Jonathan R Skinner
    Green Lane Paediatric and Congenital Cardiac Services, Starship Hospital, Auckland, New Zealand
    Heart Rhythm 4:1568-72. 2007
  3. ncbi Transposition of the great arteries: from fetus to adult
    Jon Skinner
    Pediatric Cardiology Department, Starship Children's Hospital, Private Bag 92 024, Auckland, New Zealand
    Heart 94:1227-35. 2008
  4. ncbi Detection and management of life threatening arrhythmias in the perinatal period
    Jonathan R Skinner
    Green Lane Paediatric and Congenital Cardiac Services, Starship Hospital, Grafton, Auckland, New Zealand
    Early Hum Dev 84:161-72. 2008
    ..It also illustrates which fetus or infant may be at particular risk, and illustrates key features in their management before and after birth...
  5. ncbi Brugada syndrome masquerading as febrile seizures
    Jonathan Robert Skinner
    Greenlane Paediatric and Congenital Cardiac Services, Starship Children s Hospital, Grafton, Auckland, New Zealand
    Pediatrics 119:e1206-11. 2007
    ..Genetic testing revealed an SCN5A mutation in the affected family members...
  6. ncbi Guidelines for the diagnosis and management of familial long QT syndrome
    Jon R Skinner
    Department of Paediatric Cardiology, Starship Hospital Park Road, Grafton, Auckland 1001, New Zealand
    Heart Lung Circ 16:22-4. 2007
  7. ncbi Near-miss SIDS due to Brugada syndrome
    J R Skinner
    Department of Paediatric Cardiology, Starship Hospital, Grafton, Auckland, New Zealand
    Arch Dis Child 90:528-9. 2005
    ..DNA analysis revealed a missense mutation (R1193Q) in the SCN5A gene, previously linked with familial sudden unexpected nocturnal death syndrome, also known as Brugada syndrome...
  8. ncbi Is there a relation between SIDS and long QT syndrome?
    J R Skinner
    Starship Children's Hospital, Park Road, Auckland, New Zealand
    Arch Dis Child 90:445-9. 2005
  9. ncbi Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
    Jonathan R Skinner
    Greenlane Paediatric and Congenital Cardiac Services, Starship Childrens Hospital, Auckland, New Zealand
    Heart Rhythm 8:412-9. 2011
    ..Retrospective investigation of sudden unexplained death in the young (SUDY) reveals that a high proportion is due to inherited heart disease...
  10. ncbi Posthumous diagnosis of long QT syndrome from neonatal screening cards
    P A Gladding
    Cardiac Inherited Diseases Group, Auckland City Hospital Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 7:481-6. 2010
    ..Molecular autopsy in sudden unexplained death in the young (SUDY) victims cannot usually be performed if tissue suitable for DNA extraction is not retained at autopsy...
  11. ncbi Neonatal tachycardias: an update
    D S Kothari
    Starship Hospital, Auckland, New Zealand
    Arch Dis Child Fetal Neonatal Ed 91:F136-44. 2006
    ..This review provides an updated framework for the diagnosis and management of neonatal tachycardias...