Search Results - "Kernohan, Kristin D"

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants by Alirezaie, Najmeh, Kernohan, Kristin D., Hartley, Taila, Majewski, Jacek, Hocking, Toby Dylan

“…Advances in high-throughput DNA sequencing have revolutionized the discovery of variants in the human genome; however, interpreting the phenotypic effects of…”
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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

“…Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian…”
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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

“…Receptor tyrosine kinases (RTKs) are a family of ligand-binding cell surface receptors that regulate a wide range of essential cellular activities, including…”
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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

“…Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the…”
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ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions by Levy, Michael A, Kernohan, Kristin D, Jiang, Yan, Bérubé, Nathalie G

“…ATRX is a chromatin remodeling protein involved in deposition of the histone variant H3.3 at telomeres and pericentromeric heterochromatin. It also influences…”
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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

“…ATRX and MeCP2 belong to an expanding group of chromatin-associated proteins implicated in human neurodevelopmental disorders, although their gene-regulatory…”
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Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations by 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

“…Spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons causing muscle atrophy and weakness. Nusinersen, the first effective…”
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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

“…An increasing number of proteins involved in genome organization have been implicated in neurodevelopmental disorders, highlighting the importance of chromatin…”
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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.

“…Tonne–Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability syndrome associated with variable clinical features including craniofacial…”
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Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene by 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

“…Deleterious variants in the same gene present in two or more families with overlapping clinical features provide convincing evidence of a disease–gene…”
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Periodic breathing in patients with NALCN mutations by Bourque, Danielle K, Dyment, David A, MacLusky, Ian, Kernohan, Kristin D, McMillan, Hugh J

“…Biallelic mutations in NALCN are responsible for infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1). Common features of this…”
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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

“…DNA methylation is an essential epigenetic mark, controlled by DNA methyltransferase (DNMT) proteins, which regulates chromatin structure and gene expression…”
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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 by 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.

“…We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by…”
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RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report by Marshall, Aren E, MacDonald, Stella K, Liang, Yijing, Couse, Madeline, Boycott, Kym M, Richer, Julie, Kernohan, Kristin D

“…Intronic variants outside the canonical splice site are challenging to interpret and therefore likely represent an underreported cause of human disease…”
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The expanding diagnostic toolbox for rare genetic diseases by Kernohan, Kristin D., Boycott, Kym M.

“…Genomic technologies, such as targeted, exome and short-read genome sequencing approaches, have revolutionized the care of patients with rare genetic diseases…”
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New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases by Hartley, Taila, Lemire, Gabrielle, Kernohan, Kristin D, Howley, Heather E, Adams, David R, Boycott, Kym M

“…Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare…”
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Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery by Boycott, Kym M., Hartley, Taila, Kernohan, Kristin D., Dyment, David A., Howley, Heather, Innes, A. Micheil, Bernier, Francois P., Brudno, Michael

“…The past decade has witnessed a rapid evolution in rare disease (RD) research, fueled by the availability of genome-wide (exome and genome) sequencing. In…”
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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 by Venkateswaran, Sunita, Michaud, Jean, Ito, Yoko, Geraghty, Michael, Lewis, Evan C., Ellezam, Benjamin, Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.

“…Background Childhood neurodegenerative diseases often pose a challenge to clinicians to diagnose because of the degree of genetic heterogeneity and variable…”
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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 by Marshall, Aren E., Lemire, Gabrielle, Liang, Yijing, Davila, Jorge, Couse, Madeline, Boycott, Kym M., Kernohan, Kristin D.

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Three dimensional dual labelled DNA fluorescent in situ hybridization analysis in fixed tissue sections by Kernohan, Kristin D., Bérubé, Nathalie G.

“…Emerging studies demonstrate that three-dimensional organization of chromatin in the nucleus plays a vital role in regulating the genome. DNA fluorescent in…”
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