Kristin D. Kernohan
Ottawa, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 77 publications
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 09, 2025
A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus.
Journal: American journal of medical genetics. Part A
Published: January 31, 2025
Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program.
Journal: JAMA pediatrics
Published: January 21, 2025
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 07, 2024
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 08, 2024
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Journal: American journal of medical genetics. Part A
Published: January 03, 2024
The expanding diagnostic toolbox for rare genetic diseases.
Journal: Nature reviews. Genetics
Published: November 22, 2023
Congenital tremor and myopathy secondary to novel MYBPC1 variant.
Journal: Journal of the neurological sciences
Published: October 24, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Journal: American journal of medical genetics. Part A
Published: October 20, 2023
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Journal: American journal of medical genetics. Part A
Published: August 24, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
Journal: Journal of human genetics
Published: August 08, 2023
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Journal: American journal of medical genetics. Part A
Published: July 17, 2023
Last Updated: 09/26/2026