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Evidence for genetic anticipation in vonHippel-Lindau syndrome
  1. Laura Aronoff1,2,
  2. David Malkin1,3,4,5,
  3. Kalene van Engelen3,
  4. Bailey Gallinger1,3,6,7,
  5. Jonathan Wasserman3,4,8,
  6. Raymond H Kim9,10,11,
  7. Anita Villani1,4,
  8. M Stephen Meyn3,4,6,9,
  9. Harriet Druker1,6,7
  1. 1 Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada
  2. 2 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada
  3. 3 Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, Canada
  4. 4 Department of Paediatrics, University of Toronto, Toronto, Canada
  5. 5 Department of Medical Biophysics, University of Toronto, Toronto, Canada
  6. 6 Department of Molecular Genetics, University of Toronto, Toronto, Canada
  7. 7 Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada
  8. 8 Division of Endocrinology, The Hospital for Sick Children, Toronto, Canada
  9. 9 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
  10. 10 Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Toronto, Canada
  11. 11 Department of Medicine, University of Toronto, Toronto, Canada
  1. Correspondence to Professor M Stephen Meyn, Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA; stephen.meyn{at}wisc.edu

Footnotes

  • MSM and HD contributed equally.

  • Contributors DM, BG, MSM and HD: conceptualised and designed the study. LA and KvE: performed data collection and analysis. LA: prepared the initial draft. LA, KvE, HD and MSM: revised subsequent drafts. LA, DM, KvE, BG, JW, RHK, AV, MSM and HD: provided clinical input and reviewed, edited and approved the final manuscript.

  • Funding Starbucks Coffee Company Endowment Fund for the Starbucks Student Award 2015 (to LA) and the SickKids Foundation (to DM).

  • Competing interests None declared.

  • Ethics approval Research Ethics Board (REB# 1000050340) at The Hospital for Sick Children.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • MSM and HD contributed equally.

  • Contributors DM, BG, MSM and HD: conceptualised and designed the study. LA and KvE: performed data collection and analysis. LA: prepared the initial draft. LA, KvE, HD and MSM: revised subsequent drafts. LA, DM, KvE, BG, JW, RHK, AV, MSM and HD: provided clinical input and reviewed, edited and approved the final manuscript.

  • Funding Starbucks Coffee Company Endowment Fund for the Starbucks Student Award 2015 (to LA) and the SickKids Foundation (to DM).

  • Competing interests None declared.

  • Ethics approval Research Ethics Board (REB# 1000050340) at The Hospital for Sick Children.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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