Kristin Kernohan


Kristin Kernohan
Senior Scientist, CHEO Research Institute Scientist, CHEO Research Institute Investigator, CHEO Research Institute

Kristin Kernohan


Kristin Kernohan completed her HB.Sc, Honours specialization in Genetics and Ph.D in Biochemistry at the University of Western Ontario. After graduate school she completed a post-doctoral fellowship with Care4Rare and CCMG training at the Children’s Hospital of Eastern Ontario before joining NSO in 2018. Dr. Kernohan is certified by the Canadian College of Medical Geneticists and she is a Clinical Doctoral Scientist at Newborn Screening Ontario.

Her research interests include the identification of new disease genes and developmental of new technologies for molecular diagnostics.


Recent publication #1

1: Kernohan KD, McMillan HJ, Yeh E, Lacaria M, Kowalski M, Campbell C, Dowling

JJ, Gonorazky H, Marcadier J, Tarnopolsky MA, Vajsar J, Mackenzie A, Chakraborty

P. Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year. Can J

Neurol Sci. 2021 Oct 8:1-7. doi: 10.1017/cjn.2021.231. Epub ahead of print.

PMID: 34620260.


Recent publication #2

McMillan HJ, Davila J, Osmond M, Chakraborty P; Care4Rare Canada Consortium,

Boycott KM, Dyment DA, Kernohan KD. Whole genome sequencing identifies

pathogenic RNU4ATAC variants in a child with recurrent encephalitis,

microcephaly, and normal stature. Am J Med Genet A. 2021 Nov;185(11):3502-3506.

doi: 10.1002/ajmg.a.62457. Epub 2021 Aug 18. PMID: 34405953.


Recent publication #3

White SM, Bhoj E, Nellåker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D,

Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R,

Koch-Hogrebe M, Õunap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S,

Tan TY, Christodoulou J, Barea J, Lockhart PJ; Care4Rare Canada Consortium,

Nezarati MM, Kernohan KD. A DNA repair disorder caused by de novo monoallelic

DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet.

2021 Apr 1;108(4):749-756. doi: 10.1016/j.ajhg.2021.03.007. Epub 2021 Mar 19.

PMID: 33743206; PMCID: PMC8059373.

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