Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
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 American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
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 American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations
McMillan, Hugh J., Kernohan, Kristin D., Yeh, Ed, Amburgey, Kim, Boyd, Jennifer, Campbell, Craig, Dowling, James J., Gonorazky, Hernan, Marcadier, Janet, Tarnopolsky, Mark A., Vajsar, Jiri, MacKenzie, Alex, Chakraborty, Pranesh
Published in Canadian journal of neurological sciences (01.07.2021)
Published in Canadian journal of neurological sciences (01.07.2021)
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Journal Article
Dual effect of CTCF loss on neuroprogenitor differentiation and survival
Watson, L Ashley, Wang, Xu, Elbert, Adrienne, Kernohan, Kristin D, Galjart, Niels, Bérubé, Nathalie G
Published in The Journal of neuroscience (19.02.2014)
Published in The Journal of neuroscience (19.02.2014)
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A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome
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 Scientific reports (05.05.2021)
Published in Scientific reports (05.05.2021)
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Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene
Kernohan, Kristin D., Dyment, David A., Pupavac, Mihaela, Cramer, Zvi, McBride, Arran, Bernard, Genevieve, Straub, Isabella, Tetreault, Martine, Hartley, Taila, Huang, Lijia, Sell, Erick, Majewski, Jacek, Rosenblatt, David S., Shoubridge, Eric, Mhanni, Aziz, Myers, Tara, Proud, Virginia, Vergano, Samanta, Spangler, Brooke, Farrow, Emily, Kussman, Jennifer, Safina, Nicole, Saunders, Carol, Boycott, Kym M., Thiffault, Isabelle
Published in Human mutation (01.05.2017)
Published in Human mutation (01.05.2017)
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Periodic breathing in patients with NALCN mutations
Bourque, Danielle K, Dyment, David A, MacLusky, Ian, Kernohan, Kristin D, McMillan, Hugh J
Published in Journal of human genetics (01.10.2018)
Published in Journal of human genetics (01.10.2018)
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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Kernohan, Kristin D, Cigana Schenkel, Laila, Huang, Lijia, Smith, Amanda, Pare, Guillaume, Ainsworth, Peter, Boycott, Kym M, Warman-Chardon, Jodi, Sadikovic, Bekim
Published in Clinical epigenetics (05.09.2016)
Published in Clinical epigenetics (05.09.2016)
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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
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.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report
Marshall, Aren E, MacDonald, Stella K, Liang, Yijing, Couse, Madeline, Boycott, Kym M, Richer, Julie, Kernohan, Kristin D
Published in Molecular genetics & genomic medicine (01.10.2023)
Published in Molecular genetics & genomic medicine (01.10.2023)
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New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases
Hartley, Taila, Lemire, Gabrielle, Kernohan, Kristin D, Howley, Heather E, Adams, David R, Boycott, Kym M
Published in Annual review of genomics and human genetics (31.08.2020)
Published in Annual review of genomics and human genetics (31.08.2020)
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Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
Boycott, Kym M., Hartley, Taila, Kernohan, Kristin D., Dyment, David A., Howley, Heather, Innes, A. Micheil, Bernier, Francois P., Brudno, Michael
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA
Venkateswaran, Sunita, Michaud, Jean, Ito, Yoko, Geraghty, Michael, Lewis, Evan C., Ellezam, Benjamin, Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.
Published in Movement disorders (01.11.2024)
Published in Movement disorders (01.11.2024)
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RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31
Marshall, Aren E., Lemire, Gabrielle, Liang, Yijing, Davila, Jorge, Couse, Madeline, Boycott, Kym M., Kernohan, Kristin D.
Published in American journal of medical genetics. Part A (01.04.2024)
Published in American journal of medical genetics. Part A (01.04.2024)
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