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

le Kernohan, Kristin D., Bérubé, Nathalie G.
Foilsithe in MethodsX (2014)

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

le Kernohan, Kristin D., Vernimmen, Douglas, Gloor, Gregory B., Bérubé, Nathalie G.
Foilsithe 2014

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

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

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

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

Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival

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

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

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

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

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

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

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

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

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

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

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

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

le Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I., Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.
Foilsithe 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...

le 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.
Foilsithe in Hum Mol Genet (2015)

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

le 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.
Foilsithe in Sci Rep (2021)

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

le 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
Foilsithe in Epigenetics Chromatin (2017)

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

le 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
Foilsithe in Am J Hum Genet (2018)

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

le 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
Foilsithe in Hum Mutat (2017)

Yunis-Varón syndrome caused by biallelic VAC14 mutations

le 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
Foilsithe in Eur J Hum Genet (2017)

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

le 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
Foilsithe in Am J Hum Genet (2018)

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

le 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.
Foilsithe 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

le 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
Foilsithe in Am J Hum Genet (2015)