Torthaí cuardaigh - Kristin D. Kernohan

Beachtaigh na torthaí
  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 de réir Kristin D. Kernohan, Douglas Vernimmen, Gregory B. Gloor, Nathalie G. Bérubé

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Michael A. Levy, Kristin D. Kernohan, Yan Jiang, Nathalie G. Bérubé

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  3. 3
    ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants

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

    Foilsithe / Cruthaithe 2018
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Laura M. McDonell, Kristin D. Kernohan, Kym M. Boycott, Sarah L. Sawyer

    Foilsithe / Cruthaithe 2015
    Faigh an téacs iomlán Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  5. 5
    Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival

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

    Foilsithe / Cruthaithe 2014
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  6. 6
    New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

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

    Foilsithe / Cruthaithe 2020
    Faigh an téacs iomlán Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Christina Blagojevic, Tracy Heung, Mylène Thériault, Aoy Tomita‐Mitchell, Pranesh Chakraborty, Kristin D. Kernohan, Dennis E. Bulman, Anne S. Bassett

    Foilsithe / Cruthaithe 2021
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Kym M. Boycott, Taila Hartley, Kristin D. Kernohan, David A. Dyment, Heather Howley, A. Micheil Innes, François Bernier, Michael Brudno

    Foilsithe / Cruthaithe 2022
    Faigh an téacs iomlán Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Kristin D. Kernohan, Yan Jiang, Deanna C. Tremblay, Anne C. Bonvissuto, James H. Eubanks, Mellissa R.W. Mann, Nathalie G. Bérubé

    Foilsithe / Cruthaithe 2010
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Kristin D. Kernohan, Laila C. Schenkel, Lijia Huang, Amanda Smith, Guillaume Paré, Peter Ainsworth, Kym M. Boycott, Jodi Warman‐Chardon, Bekim Sadiković

    Foilsithe / Cruthaithe 2016
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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... de réir 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

    Foilsithe / Cruthaithe 2015
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2017
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2018
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  14. 14
    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy de réir 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

    Foilsithe / Cruthaithe 2017
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2017
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2017
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2017
    Faigh an téacs iomlán Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2018
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2015
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2019
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:

Uirlisí cuardaigh: