Stella K MacDonald - JoVE Visualize

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Molecular Genetics & Genomic Medicine|July 25, 2023

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case reportAren E Marshall, Stella K MacDonald, Yijing Liang, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.

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Molecular Genetics & Genomic Medicine|July 25, 2023

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case reportAren E Marshall, Stella K MacDonald, Yijing Liang, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.

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