Kristin D. Kernohan

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants

Najmeh Alirezaie, Kristin D. Kernohan, Taila Hartley et al. · The American Journal of Human Genetics · 2018 · 277 citations · Full text

Allelic Variant, Genetics, Genetic Epidemiology +8

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan et al. · The American Journal of Human Genetics · 2015 · 224 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Autosomal-recessive Intellectual Disability +10

ATRX Partners with Cohesin and MeCP2 and Contributes to Developmental Silencing of Imprinted Genes in the Brain

Kristin D. Kernohan, Yan Jiang, Deanna C. Tremblay et al. · Developmental Cell · 2010 · 176 citations · Full text

Atrx Partners, Signal Transduction, Molecular Neuroscience +11

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Erfan Aref‐Eshghi, David I. Rodenhiser, Laila C. Schenkel et al. · The American Journal of Human Genetics · 2018 · 173 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Epigenetic Change +11

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

Christina Blagojevic, Tracy Heung, Mylène Thériault et al. · CMAJ Open · 2021 · 146 citations · Full text