Kristin D. Kernohan
University of Ottawa(CA)Children's Hospital of Eastern Ontario(CA)Newborn Screening Ontario(CA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Neurological diseases and metabolism, Epigenetics and DNA Methylation, Endoplasmic Reticulum Stress and Disease, Genetic Syndromes and Imprinting
Most-Cited Works
- → Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go(2021)167 cited
- → Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy(2016)79 cited
- → Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders(2022)77 cited
- → PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation(2019)73 cited
- → Stanniocalcin 2 alters PERK signalling and reduces cellular injury during cerulein induced pancreatitis in mice(2011)42 cited
- → Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy(2017)36 cited