Kristin D. Kernohan

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Laure Frésard, Craig Smail, Nicole M. Ferraro et al. · Nature Medicine · 2019 · 355 citations

Life Sciences, Genetics, Molecular Genetics +16

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 · 291 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

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 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 178 citations · Full text

Life Sciences, Developmental Biology, Genetics +15