Bilaketaren emaitzak - Kristin D. Kernohan

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  1. 1
    Analysis of neonatal brain lacking ATRX or MeCP2 reveals changes in nucleosome density, CTCF binding and chromatin looping

    Analysis of neonatal brain lacking ATRX or MeCP2 reveals changes in nucleosome density, CTCF binding and chromatin looping nork Kristin D. Kernohan, Douglas Vernimmen, Gregory B. Gloor, Nathalie G. Bérubé

    Argitaratua 2014
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  2. 2
    ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions

    ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions nork Michael A. Levy, Kristin D. Kernohan, Yan Jiang, Nathalie G. Bérubé

    Argitaratua 2014
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  3. 3
    ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants

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

    Argitaratua 2018
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  4. 4
    Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin

    Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin nork Laura M. McDonell, Kristin D. Kernohan, Kym M. Boycott, Sarah L. Sawyer

    Argitaratua 2015
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  5. 5
    Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival

    Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival nork L. Ashley Watson, Xu Wang, Adrienne Elbert, Kristin D. Kernohan, Niels Galjart, Nathalie G. Bérubé

    Argitaratua 2014
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  6. 6
    New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

    New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases nork Taila Hartley, Gabrielle Lemire, Kristin D. Kernohan, Heather Howley, David R. Adams, Kym M. Boycott

    Argitaratua 2020
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  7. 7
    Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

    Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening nork Christina Blagojevic, Tracy Heung, Mylène Thériault, Aoy Tomita‐Mitchell, Pranesh Chakraborty, Kristin D. Kernohan, Dennis E. Bulman, Anne S. Bassett

    Argitaratua 2021
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  8. 8
    Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

    Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery nork Kym M. Boycott, Taila Hartley, Kristin D. Kernohan, David A. Dyment, Heather Howley, A. Micheil Innes, François Bernier, Michael Brudno

    Argitaratua 2022
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  9. 9
    ATRX Partners with Cohesin and MeCP2 and Contributes to Developmental Silencing of Imprinted Genes in the Brain

    ATRX Partners with Cohesin and MeCP2 and Contributes to Developmental Silencing of Imprinted Genes in the Brain nork Kristin D. Kernohan, Yan Jiang, Deanna C. Tremblay, Anne C. Bonvissuto, James H. Eubanks, Mellissa R.W. Mann, Nathalie G. Bérubé

    Argitaratua 2010
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  10. 10
    Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

    Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy nork Kristin D. Kernohan, Laila C. Schenkel, Lijia Huang, Amanda Smith, Guillaume Paré, Peter Ainsworth, Kym M. Boycott, Jodi Warman‐Chardon, Bekim Sadiković

    Argitaratua 2016
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  11. 11
    Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene,<i>PPP1R15B</i>, is associated with severe microcephaly, short stature and intellectual disability

    Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene,<i>PPP1R15B</i>, is associated with severe microcephaly, short stature and intellectual... nork Kristin D. Kernohan, Martine Tétreault, Urszula Liwak, Michael T. Geraghty, Wen Qin, Sunita Venkateswaran, Jorge Dávila, Martin Holčı́k, Jacek Majewski, Julie Richer, Kym M. Boycott

    Argitaratua 2015
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  12. 12
    Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

    Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome nork Laila C. Schenkel, Kristin D. Kernohan, Arran McBride, Reina Ditta, Amanda Hodge, Peter Ainsworth, David I. Rodenhiser, Guillaume Paré, Nathalie G. Bérubé, Cindy Skinner, Kym M. Boycott, Charles E. Schwartz, Bekim Sadiković

    Argitaratua 2017
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  13. 13
    Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

    Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes nork Erfan Aref‐Eshghi, David I. Rodenhiser, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L. Hood, Dennis E. Bulman, Kristin D. Kernohan, Kym M. Boycott, Philippe M. Campeau, Charles E. Schwartz, Bekim Sadiković

    Argitaratua 2018
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  14. 14
    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy nork Cas Simons, David A. Dyment, Stephen J. Bent, Joanna Crawford, Marc D’Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee Tien Poll‐The, Christine Makowski, Yoko Ito, Kristin D. Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J. Taft, Marjo S. van der Knaap, Nicole I. Wolf

    Argitaratua 2017
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  15. 15
    Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

    Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy nork Devon L. Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D. Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D. Wagner, Lijia Huang, Taila Hartley, Anik St‐Denis, Françoise Le Deist, Jacek Majewski, Dennis E. Bulman, Taroh Kinoshita, David A. Dyment, Kym M. Boycott, Philippe M. Campeau

    Argitaratua 2017
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  16. 16
    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i> ) gene

    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i> ) gene nork Kristin D. Kernohan, David A. Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Geneviève Bernard, Isabella R. Straub, Martine Tétreault, Taila Hartley, Lijia Huang, Erick Sell, Jacek Majewski, David S. Rosenblatt, Eric A. Shoubridge, Aziz Mhanni, Tara Myers, Virginia K. Proud, S. Schrier Vergano, Brooke Spangler, Emily Farrow, Jennifer Kussman, Nicole P. Safina, Carol Saunders, Kym M. Boycott, Isabelle Thiffault

    Argitaratua 2017
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  17. 17
    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia nork Jessica L. Zambonin, Allison Bellomo, Hilla Ben‐Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin D. Kernohan, Mary Kay Koenig, Matthew A. Lines, Elizabeth E. Palmer, Randal Richardson, Reeval Segel, Mark A. Tarnopolsky, Jason Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Tracy Dudding‐Byth, Kym M. Boycott

    Argitaratua 2017
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  18. 18
    Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

    Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects nork Serge Bonnefoy, Christopher M. Watson, Kristin D. Kernohan, Moara Lemos, Sebastian Hutchinson, James A. Poulter, Laura A. Crinnion, Ian Berry, Jennifer Simmonds, Pradeep Vasudevan, Chris O’Callaghan, Robert A. Hirst, Andrew Rutman, Lijia Huang, Taila Hartley, David Grynspan, Eduardo Moya, Chunmei Li, Ian Carr, David T. Bonthron, Michel R. Leroux, Kym M. Boycott, Philippe Bastin, Eamonn Sheridan

    Argitaratua 2018
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  19. 19
    Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

    Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 nork Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan, Ola H. Gebril, Aziz Mhanni, Albert E. Chudley, David Redl, Wen Qin, Sarah Hampson, Sébastien Küry, Martine Tétreault, Erik G. Puffenberger, James N. Scott, Stéphane Bézieau, André Reis, Steffen Uebe, Johannes Schumacher, Robert A. Hegele, D. Ross McLeod, Marina Gálvez‐Peralta, Jacek Majewski, V. Ramaekers, Daniel W. Nebert, A. Micheil Innes, Jillian S. Parboosingh, Rami Abou Jamra

    Argitaratua 2015
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  20. 20
    Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts nork Laure Frésard, Craig Smail, Nicole M. Ferraro, Nicole A. Teran, Xin Li, Kevin S. Smith, Devon Bonner, Kristin D. Kernohan, Shruti Marwaha, Zachary Zappala, Brunilda Balliu, Joe R. Davis, Boxiang Liu, Cameron J. Prybol, Jennefer N. Kohler, Diane B. Zastrow, Chloe M. Reuter, Dianna G. Fisk, Megan E. Grove, Jean M. Davidson, Taila Hartley, Ruchi Joshi, Benjamin J. Strober, Sowmithri Utiramerur, Lars Lind, Erik Ingelsson, Alexis Battle, Gill Bejerano, Jonathan A. Bernstein, Euan A. Ashley, Kym M. Boycott, Jason D. Merker, Matthew T. Wheeler, Stephen B. Montgomery

    Argitaratua 2019
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