Hakutulokset - Hans T. Björnsson

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  1. 1
    The Mendelian disorders of the epigenetic machinery

    The Mendelian disorders of the epigenetic machinery Tekijä Hans T. Björnsson

    Julkaistu 2015
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  2. 2
    Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

    Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States Tekijä Jill A. Fahrner, Hans T. Björnsson

    Julkaistu 2014
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  3. 3
    Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects

    Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects Tekijä Jill A. Fahrner, Hans T. Björnsson

    Julkaistu 2019
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  4. 4
    HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination

    HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination Tekijä Martin I. Sigurðsson, Albert V. Smith, Hans T. Björnsson, Jón J. Jónsson

    Julkaistu 2009
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  5. 5
    Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

    Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here? Tekijä Jacqueline Harris, Christine W. Gao, Jacquelyn Britton, Carolyn Applegate, Hans T. Björnsson, Jill A. Fahrner

    Julkaistu 2023
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  6. 6
    Coexpression patterns define epigenetic regulators associated with neurological dysfunction

    Coexpression patterns define epigenetic regulators associated with neurological dysfunction Tekijä Leandros Boukas, James M. Havrilla, Peter F. Hickey, Aaron R. Quinlan, Hans T. Björnsson, Kasper D. Hansen

    Julkaistu 2019
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  7. 7
    Epigenetic Specificity of Loss of Imprinting of the IGF2 Gene in Wilms Tumors

    Epigenetic Specificity of Loss of Imprinting of the IGF2 Gene in Wilms Tumors Tekijä Hans T. Björnsson, Lindsey J. Brown, M. Danielle Fallin, Michael Rongione, Marina Bibikova, Eliza Wickham, Jian-Bing Fan, Andrew P. Feinberg

    Julkaistu 2007
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  8. 8
    A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome

    A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome Tekijä Joel S. Benjamin, Genay Pilarowski, Giovanni A. Carosso, Li Zhang, David L. Huso, Loyal A. Goff, Hilary J. Vernon, Kasper D. Hansen, Hans T. Björnsson

    Julkaistu 2016
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  9. 9
    Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

    Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome Tekijä Hans T. Björnsson, Joel S. Benjamin, Li Zhang, Jacqueline Weissman, Elizabeth E. Gerber, Yi‐Chun Chen, Rebecca Vaurio, Michelle Potter, Kasper D. Hansen, Harry C. Dietz

    Julkaistu 2014
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  10. 10
    SNP-specific array-based allele-specific expression analysis

    SNP-specific array-based allele-specific expression analysis Tekijä Hans T. Björnsson, Thomas J. Albert, Christine M. Ladd-Acosta, Roland D. Green, Michael Rongione, Christina M. Middle, Rafael A. Irizarry, Karl W. Broman, Andrew P. Feinberg

    Julkaistu 2008
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  11. 11
    Universal prediction of cell-cycle position using transfer learning

    Universal prediction of cell-cycle position using transfer learning Tekijä Shijie Zheng, Genevieve Stein-O’Brien, Jonathan J. Augustin, Jared Slosberg, Giovanni A. Carosso, Briana L. Winer, Gloria Shin, Hans T. Björnsson, Loyal A. Goff, Kasper D. Hansen

    Julkaistu 2022
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  12. 12
    Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice

    Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice Tekijä Jill A. Fahrner, Wan-Ying Lin, Ryan C. Riddle, Leandros Boukas, Valerie B. DeLeon, Sheetal Chopra, Susan E. Lad, Teresa Romeo Luperchio, Kasper D. Hansen, Hans T. Björnsson

    Julkaistu 2019
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  13. 13
    Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome

    Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome Tekijä Giovanni A. Carosso, Leandros Boukas, Jonathan J. Augustin, Ha Nam Nguyen, Briana L. Winer, Gabrielle H. Cannon, Johanna D. Robertson, Li Zhang, Kasper D. Hansen, Loyal A. Goff, Hans T. Björnsson

    Julkaistu 2019
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  14. 14
    Intra-individual Change Over Time in DNA Methylation With Familial Clustering

    Intra-individual Change Over Time in DNA Methylation With Familial Clustering Tekijä Hans T. Björnsson, Martin I. Sigurðsson, M. Daniele Fallin, Rafael A. Irizarry, Thor Aspelund, Hengmi Cui, Wenqiang Yu, Michael Rongione, Tomas J. Ekström, Tamara B. Harris, Lenore J. Launer, Guðný Eiríksdóttir, Mark Leppert, Carmen Sapienza, Vilmundur Guðnason, Andrew P. Feinberg

    Julkaistu 2008
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  15. 15
    Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

    Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities Tekijä Nara Sobreira, Martha Brucato, Li Zhang, Christine Ladd‐Acosta, Chrissie M. Ongaco, Jane Romm, Kimberly F. Doheny, Regina Célia Mingroni‐Netto, Débora Romeo Bertola, Chong Ae Kim, Ana BA Perez, Maria Isabel Melaragno, David Valle, Vera Ayres Meloni, Hans T. Björnsson

    Julkaistu 2017
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  16. 16
    Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability

    Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability Tekijä Genay Pilarowski, Hilary J. Vernon, Carolyn Applegate, Leandros Boukas, Megan T. Cho, Christina A. Gurnett, Paul J. Benke, Erin Beaver, Jennifer Heeley, Līvija Medne, Ian D. Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B. Henderson, Ingrid M. Wentzensen, Berivan Baskin, María J. Guillen Sacoto, Gregory D. Bowman, Hans T. Björnsson

    Julkaistu 2017
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  17. 17
    Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

    Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance Tekijä Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl S. Barron, Deborah L. Stone, Patrycja Hoffmann, Michael S. Hershfield, Carolyn Applegate, Hans T. Björnsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, NIH Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich

    Julkaistu 2020
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  18. 18
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 Tekijä Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Julkaistu 2021
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  19. 19
    Recommendations for the integration of genomics into clinical practice

    Recommendations for the integration of genomics into clinical practice Tekijä Sarah Bowdin, A Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, John W. Belmont, Barbara A. Bernhardt, Leslie G. Biesecker, Hans T. Björnsson, Miriam G. Blitzer, Lisa C.A. D’Alessandro, Matthew A. Deardorff, Laurie Demmer, Alison M. Elliott, Gerald L. Feldman, Ian Glass, Gail E. Herman, Lucia A. Hindorff, Fuki M. Hisama, Louanne Hudgins, A. Micheil Innes, Laird Jackson, Gail P. Jarvik, Raymond H. Kim, Bruce R. Korf, David H. Ledbetter, Mindy Li, Eriskay Liston, Christian R. Marshall, Līvija Medne, M. Stephen Meyn, Nasim Monfared, Cynthia C. Morton, John J. Mulvihill, Sharon E. Plon, Heidi L. Rehm, Amy E. Roberts, Cheryl Shuman, Nancy B. Spinner, Dimitri J. Stavropoulos, Kathleen Valverde, Darrel Waggoner, Alisha Wilkens, Ronald D. Cohn, Ian D. Krantz

    Julkaistu 2016
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  20. 20
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Tekijä Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    Julkaistu 2022
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