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Kernohan, Kristin D.
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1

P580: Care4Rare Canada: Application of a multi-omics protoc..:

Soubry, Elisabeth ; Hartley, Taila ; Ackers, Meryl...
Genetics in Medicine Open.  2 (2024)  - p. 101486 , 2024
Link: https://doi.org/10.1016/..
 
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2

P605: RNA sequencing as a second-line test for rare disease:

Marshall, Aren ; Del Gobbo, Giulia ; Liang, Yijing...
Genetics in Medicine Open.  2 (2024)  - p. 101511 , 2024
Link: https://doi.org/10.1016/..
 
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3

P619: Three years of newborn screening for MPS1 in Ontario:..:

Lacaria, Melanie ; Henderson, Matthew ; Yeh, Ed...
Genetics in Medicine Open.  2 (2024)  - p. 101525 , 2024
Link: https://doi.org/10.1016/..
 
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4

The expanding diagnostic toolbox for rare genetic diseases:

Kernohan, Kristin D. ; Boycott, Kym M.
Nature Reviews Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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5

Congenital tremor and myopathy secondary to novel MYBPC1 va..:

Leduc-Pessah, Heather ; Smith, Ian C. ; Kernohan, Kristin D....
Journal of the Neurological Sciences.  457 (2024)  - p. 122864 , 2024
Link: https://doi.org/10.1016/..
 
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6

Next generation sequencing reveals novel compound heterozyg..:

Marshall, Aren E. ; Brady, Lauren ; Yeh, Ed...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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7

O36: Long-read genome sequencing in unsolved rare genetic d..:

Del Gobbo, Giulia ; Couse, Madeline ; Lambert, Christine...
Genetics in Medicine Open.  2 (2024)  - p. 101474 , 2024
Link: https://doi.org/10.1016/..
 
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8

82 Newborn Screening for Severe Combined Immune Deficiency:..:

Mudilage, Mithili ; Kalashnikova, Tatiana ; Muranyi, Andrew...
Clinical Immunology.  262 (2024)  - p. 110024 , 2024
Link: https://doi.org/10.1016/..
 
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9

RNA sequencing resolves novel DYNC2H1 variants causing shor..:

Marshall, Aren E. ; MacDonald, Stella K. ; Liang, Yijing...
Molecular Genetics & Genomic Medicine.  11 (2023)  10 - p. , 2023
Link: https://doi.org/10.1002/..
 
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10

RNA sequencing reveals deep intronic CEP120 variant: A repo..:

Marshall, Aren E. ; Lemire, Gabrielle ; Liang, Yijing...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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11

Molecular characterization of 13 patients with PIK3CA‐relat..:

de Kock, Leanne ; Cuillerier, Alexanne ; Gillespie, Meredith...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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12

P509: Resolution of variants of uncertain significance by R..:

Marshall, Aren ; Del Gobbo, Giulia ; Liang, Yijing...
Genetics in Medicine Open.  1 (2023)  1 - p. 100556 , 2023
Link: https://doi.org/10.1016/..
 
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13

Long‐read genome sequencing reveals a novel intronic retroe..:

Del Gobbo, Giulia F. ; Wang, Xueqi ; Couse, Madeline...
American Journal of Medical Genetics Part A.  194 (2023)  5 - p. , 2023
Link: https://doi.org/10.1002/..
 
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14

Integrated omics analyses clarifies ATRX copy number varian..:

Marshall, Aren E. ; Liang, Yijing ; Couse, Madeline...
Journal of Human Genetics.  69 (2023)  2 - p. 101-105 , 2023
Link: https://doi.org/10.1038/..
 
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RNA sequencing to support intronic variant interpretation: ..:

Bhola, Priya T. ; Marshall, Aren E. ; Liang, Yijing...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1664-1668 , 2023
Link: https://doi.org/10.1002/..
 
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