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

Por Kernohan, Kristin D., Bérubé, Nathalie G.
Publicado no MethodsX (2014)

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

Por Kernohan, Kristin D., Vernimmen, Douglas, Gloor, Gregory B., Bérubé, Nathalie G.
Publicado em 2014

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

Por Alirezaie, Najmeh, Kernohan, Kristin D., Hartley, Taila, Majewski, Jacek, Hocking, Toby Dylan
Publicado no Am J Hum Genet (2018)

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

Por McDonell, Laura M., Kernohan, Kristin D., Boycott, Kym M., Sawyer, Sarah L.
Publicado no Hum Mol Genet (2015)

Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival

Por Watson, L. Ashley, Wang, Xu, Elbert, Adrienne, Kernohan, Kristin D., Galjart, Niels, Bérubé, Nathalie G.
Publicado no J Neurosci (2014)

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

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

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

Por Fazio, Elena N, DiMattia, Gabriel E, Chadi, Sami A, Kernohan, Kristin D, Pin, Christopher L
Publicado em 2011

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

Por Hanes, Ilana, McMillan, Hugh J., Ito, Yoko, Kernohan, Kristin D., Lazier, Joanna, Lines, Matthew A., Dyment, David A.
Publicado no Neurol Genet (2020)

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

Por Gillespie, Meredith K., McMillan, Hugh J., Kernohan, Kristin D., Pena, Izabella A., Meyer-Schuman, Rebecca, Antonellis, Anthony, Boycott, Kym M.
Publicado no J Neuromuscul Dis (2019)

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

Por Kernohan, Kristin D., Cigana Schenkel, Laila, Huang, Lijia, Smith, Amanda, Pare, Guillaume, Ainsworth, Peter, Boycott, Kym M., Warman-Chardon, Jodi, Sadikovic, Bekim
Publicado no Clin Epigenetics (2016)

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Por Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I., Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.
Publicado no 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...

Por 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.
Publicado no Hum Mol Genet (2015)

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

Por 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
Publicado no Epigenetics Chromatin (2017)

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

Por 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
Publicado no Am J Hum Genet (2018)

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

Por 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
Publicado no Hum Mutat (2017)

Yunis-Varón syndrome caused by biallelic VAC14 mutations

Por 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
Publicado no Eur J Hum Genet (2017)

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Por 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
Publicado no Am J Hum Genet (2018)

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

Por 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.
Publicado no Am J Hum Genet (2018)

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

Por 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
Publicado no Am J Hum Genet (2015)

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Por Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Publicado no J Inherit Metab Dis (2020)