Three dimensional dual labelled DNA fluorescent in situ hybridization analysis in fixed tissue sections

by Kernohan, Kristin D., Bérubé, Nathalie G.
Published in MethodsX (2014)

Analysis of neonatal brain lacking ATRX or MeCP2 reveals changes in nucleosome density, CTCF binding and chromatin looping

by Kernohan, Kristin D., Vernimmen, Douglas, Gloor, Gregory B., Bérubé, Nathalie G.
Published 2014

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

by Alirezaie, Najmeh, Kernohan, Kristin D., Hartley, Taila, Majewski, Jacek, Hocking, Toby Dylan
Published in Am J Hum Genet (2018)

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin

by McDonell, Laura M., Kernohan, Kristin D., Boycott, Kym M., Sawyer, Sarah L.
Published in Hum Mol Genet (2015)

Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival

by Watson, L. Ashley, Wang, Xu, Elbert, Adrienne, Kernohan, Kristin D., Galjart, Niels, Bérubé, Nathalie G.
Published in J Neurosci (2014)

Stanniocalcin 2 alters PERK signalling and reduces cellular injury during cerulein induced pancreatitis in mice

by DiMattia Gabriel E, Fazio Elena N, Chadi Sami A, Kernohan Kristin D, Pin Christopher L
Published 2011-05-01

Stanniocalcin 2 alters PERK signalling and reduces cellular injury during cerulein induced pancreatitis in mice

by Fazio, Elena N, DiMattia, Gabriel E, Chadi, Sami A, Kernohan, Kristin D, Pin, Christopher L
Published 2011

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome

by Hanes, Ilana, McMillan, Hugh J., Ito, Yoko, Kernohan, Kristin D., Lazier, Joanna, Lines, Matthew A., Dyment, David A.
Published in Neurol Genet (2020)

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

by Gillespie, Meredith K., McMillan, Hugh J., Kernohan, Kristin D., Pena, Izabella A., Meyer-Schuman, Rebecca, Antonellis, Anthony, Boycott, Kym M.
Published in J Neuromuscul Dis (2019)

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

by Kernohan, Kristin D., Cigana Schenkel, Laila, Huang, Lijia, Smith, Amanda, Pare, Guillaume, Ainsworth, Peter, Boycott, Kym M., Warman-Chardon, Jodi, Sadikovic, Bekim
Published in Clin Epigenetics (2016)

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

by Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I., Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.
Published in Neurol Genet (2018)

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabi...

by Kernohan, Kristin D., Tétreault, Martine, Liwak-Muir, Urszula, Geraghty, Michael T., Qin, Wen, Venkateswaran, Sunita, Davila, Jorge, Holcik, Martin, Majewski, Jacek, Richer, Julie, Boycott, Kym M.
Published in Hum Mol Genet (2015)

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome

by Bustos, Francisco, Espejo-Serrano, Carmen, Segarra-Fas, Anna, Toth, Rachel, Eaton, Alison J., Kernohan, Kristin D., Wilson, Meredith J., Riley, Lisa G., Findlay, Greg M.
Published in Sci Rep (2021)

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

by Schenkel, Laila C., Kernohan, Kristin D., McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter J., Rodenhiser, David I., Pare, Guillaume, Bérubé, Nathalie G., Skinner, Cindy, Boycott, Kym M., Schwartz, Charles, Sadikovic, Bekim
Published in Epigenetics Chromatin (2017)

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

by Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim
Published in Am J Hum Genet (2018)

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

by Kernohan, Kristin D., Frésard, Laure, Zappala, Zachary, Hartley, Taila, Smith, Kevin S., Wagner, Justin, Xu, Hongbin, McBride, Arran, Bourque, Pierre R., Bennett, Steffany A. L., Dyment, David A., Boycott, Kym M., Montgomery, Stephen B., Chardon, Jodi Warman
Published in Hum Mutat (2017)

Yunis-Varón syndrome caused by biallelic VAC14 mutations

by Lines, Matthew A, Ito, Yoko, Kernohan, Kristin D, Mears, Wendy, Hurteau-Miller, Julie, Venkateswaran, Sunita, Ward, Leanne, Khatchadourian, Karine, McClintock, Jeff, Bhola, Priya, Campeau, Philippe M, Boycott, Kym M, Michaud, Jean, van Kuilenburg, André BP, Ferdinandusse, Sacha, Dyment, David A
Published in Eur J Hum Genet (2017)

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

by Ito, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, Sanchis-Juan, Alba, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Boycott, Kym M., Kernohan, Kristin D., Dyack, Sarah, Raymond, F. Lucy
Published in Am J Hum Genet (2018)

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

by Bonnefoy, Serge, Watson, Christopher M., Kernohan, Kristin D., Lemos, Moara, Hutchinson, Sebastian, Poulter, James A., Crinnion, Laura A., Berry, Ian, Simmonds, Jennifer, Vasudevan, Pradeep, O’Callaghan, Chris, Hirst, Robert A., Rutman, Andrew, Huang, Lijia, Hartley, Taila, Grynspan, David, Moya, Eduardo, Li, Chunmei, Carr, Ian M., Bonthron, David T., Leroux, Michel, Boycott, Kym M., Bastin, Philippe, Sheridan, Eamonn G.
Published in Am J Hum Genet (2018)

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

by Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami
Published in Am J Hum Genet (2015)