Statistics
Publications
27
Citations
1.7K
H-Index
22
Active since
2002
Amanda Smith is an author at University of Ottawa specializing in life sciences, genetics, and medical genetics.
Publications per year
2002–2022
27
27
Elizabeth Quint, Amanda Smith, Fabien Avaron et al. · Proceedings of the National Academy of Sciences · 2002 · 206 citations
Mutations in PIK3R1 Cause SHORT Syndrome
David A. Dyment, Amanda Smith, Diana Alcantara et al. · The American Journal of Human Genetics · 2013 · 197 citations · Full text
Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg et al. · The American Journal of Human Genetics · 2012 · 182 citations · Full text
Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia
Sarah L. Sawyer, Jeremy Schwartzentruber, Chandree L. Beaulieu et al. · Human Mutation · 2013 · 100 citations · Full text
Life Sciences, Genetics, Pediatrics +17
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