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

由 Kernohan, Kristin D., Bérubé, Nathalie G.
發表在 MethodsX (2014)

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

由 Kernohan, Kristin D., Vernimmen, Douglas, Gloor, Gregory B., Bérubé, Nathalie G.
出版 2014

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

由 Alirezaie, Najmeh, Kernohan, Kristin D., Hartley, Taila, Majewski, Jacek, Hocking, Toby Dylan
發表在 Am J Hum Genet (2018)

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

由 McDonell, Laura M., Kernohan, Kristin D., Boycott, Kym M., Sawyer, Sarah L.
發表在 Hum Mol Genet (2015)

Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival

由 Watson, L. Ashley, Wang, Xu, Elbert, Adrienne, Kernohan, Kristin D., Galjart, Niels, Bérubé, Nathalie G.
發表在 J Neurosci (2014)

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

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

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

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

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

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

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

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

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

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

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

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

由 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.
發表在 Hum Mol Genet (2015)

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

由 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.
發表在 Sci Rep (2021)

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

由 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
發表在 Epigenetics Chromatin (2017)

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

由 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
發表在 Am J Hum Genet (2018)

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

由 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
發表在 Hum Mutat (2017)

Yunis-Varón syndrome caused by biallelic VAC14 mutations

由 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
發表在 Eur J Hum Genet (2017)

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

由 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
發表在 Am J Hum Genet (2018)

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

由 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.
發表在 Am J Hum Genet (2018)

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

由 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
發表在 Am J Hum Genet (2015)