RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder

Priya T Bhola^{1

2}, Aren E Marshall^{2

3}, Yijing Liang⁴, Madeline Couse⁴, Xueqi Wang^{2

3}, Elka Miller^{5

6}, Chantal F Morel⁷, Kym M Boycott^{1

2

3}, Kristin D Kernohan^{2

3

8}

Affiliations

¹ Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
² University of Ottawa, Ottawa, Ontario, Canada.
³ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
⁴ Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
⁵ Department of Medical Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
⁶ University of Toronto, Toronto, Ontario, Canada.
⁷ The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
⁸ Newborn Screening Ontario, Ottawa, Ontario, Canada.

Case Reports

Priya T Bhola et al. Am J Med Genet A. 2023 Jun.

. 2023 Jun;191(6):1664-1668.

doi: 10.1002/ajmg.a.63184. Epub 2023 Mar 30.

Priya T Bhola^{1

2}, Aren E Marshall^{2

3}, Yijing Liang⁴, Madeline Couse⁴, Xueqi Wang^{2

3}, Elka Miller^{5

6}, Chantal F Morel⁷, Kym M Boycott^{1

2

3}, Kristin D Kernohan^{2

3

8}

¹ Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
² University of Ottawa, Ottawa, Ontario, Canada.
³ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
⁴ Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
⁵ Department of Medical Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
⁶ University of Toronto, Toronto, Ontario, Canada.
⁷ The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
⁸ Newborn Screening Ontario, Ottawa, Ontario, Canada.

No abstract available

Publication types