Genetics in Medicine Open (Jan 2024)
P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines
- Ali AlMail,
- Ahmed Jamjoom,
- Amy Pan,
- Anna Feng,
- Vann Chau,
- Alissa D'Gama,
- Katherine Howell,
- Nicole Si Yan Liang,
- Amy McTague,
- Annapurna Poduri,
- Kimberly Wiltrout,
- Anne Bassett,
- John Christodoulou,
- Lucie Dupuis,
- Peter Gill,
- Tess Levy,
- Paige Siper,
- Zornitza Stark,
- Jacob Vorstman,
- Catherine Diskin,
- Natalie Jewitt,
- Danielle Baribeau,
- Gregory Costain
Affiliations
- Ali AlMail
- University of Toronto
- Ahmed Jamjoom
- Department of Paediatrics, University of Toronto, Toronto, Canada
- Amy Pan
- Department of Molecular Genetics, University of Toronto, Toronto, Canada
- Anna Feng
- Department of Molecular Genetics, University of Toronto, Toronto, Canada
- Vann Chau
- Division of Neurology, Hospital for Sick Children, Toronto, Canada
- Alissa D'Gama
- Department of Neurology, Boston Children’s Hospital, Boston, MA
- Katherine Howell
- Department of Neurology, Royal Children’s Hospital, Melbourne, Australia
- Nicole Si Yan Liang
- Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada
- Amy McTague
- Department of Neurology, Great Ormond Street Hospital, London, UK
- Annapurna Poduri
- Department of Neurology, Boston Children’s Hospital, Boston, MA
- Kimberly Wiltrout
- Department of Neurology, Boston Children’s Hospital, Boston, MA
- Anne Bassett
- Department of Psychiatry, University of Toronto, Toronto, Canada
- John Christodoulou
- Murdoch Children’s Research Institute, Melbourne, Australia
- Lucie Dupuis
- Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada
- Peter Gill
- Department of Paediatrics, University of Toronto, Toronto, Canada
- Tess Levy
- Division of Psychiatry, Ichan School of Medicine at Mount Sinai, New York City, NY
- Paige Siper
- Division of Psychiatry, Ichan School of Medicine at Mount Sinai, New York City, NY
- Zornitza Stark
- Department of Paediatrics, University of Melbourne, Melbourne, Australia
- Jacob Vorstman
- Department of Psychiatry, University of Toronto, Toronto, Canada
- Catherine Diskin
- Department of Paediatrics, University of Toronto, Toronto, Canada
- Natalie Jewitt
- Department of Paediatrics, University of Toronto, Toronto, Canada
- Danielle Baribeau
- Department of Psychiatry, University of Toronto, Toronto, Canada
- Gregory Costain
- Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, Canada
- Journal volume & issue
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Vol. 2
p. 101145
