Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

por Hamilton, Alison, Tétreault, Martine, Dyment, David A., Zou, Ruobing, Kernohan, Kristin, Geraghty, Michael T., Hartley, Taila, Boycott, Kym M.
Publicado 2016

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

por Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Publicado 2012

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

por Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T., Friend, Kathie L., Dudding, Tracy E., Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W., Douglas, Stuart, Bulman, Dennis E., Boycott, Kym M.
Publicado 2022