Hans Tomas Bjornsson
Hans Tomas Bjornsson
Prof. University of Iceland, Assoc. Prof. JHU, Clinical Director, Landspitali
確認したメール アドレス: hi.is - ホームページ
Intra-individual change over time in DNA methylation with familial clustering
HT Bjornsson, MI Sigurdsson, MD Fallin, RA Irizarry, T Aspelund, H Cui, ...
Jama 299 (24), 2877-2883, 2008
An integrated epigenetic and genetic approach to common human disease
HT Bjornsson, MD Fallin, AP Feinberg
TRENDS in Genetics 20 (8), 350-358, 2004
Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors
HT Bjornsson, LJ Brown, MD Fallin, MA Rongione, M Bibikova, ...
Journal of the National Cancer Institute 99 (16), 1270-1273, 2007
Recommendations for the integration of genomics into clinical practice
S Bowdin, A Gilbert, E Bedoukian, C Carew, MP Adam, J Belmont, ...
Genetics in Medicine 18 (11), 1075-1084, 2016
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome
HT Bjornsson, JS Benjamin, L Zhang, J Weissman, EE Gerber, YC Chen, ...
Science translational medicine 6 (256), 256ra135-256ra135, 2014
The Mendelian disorders of the epigenetic machinery.
H Bjornsson
Genome Research 25 (10), 1473-81, 2015
HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination
MI Sigurdsson, AV Smith, HT Bjornsson, JJ Jonsson
Genome research 19 (4), 581-589, 2009
SNP-specific array-based allele-specific expression analysis
HT Bjornsson, TJ Albert, CM Ladd-Acosta, RD Green, MA Rongione, ...
Genome research 18 (5), 771-779, 2008
Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states
JA Fahrner, HT Bjornsson
Annual review of genomics and human genetics 15, 269-293, 2014
Kabuki syndrome: international consensus diagnostic criteria
MP Adam, S Banka, HT Bjornsson, O Bodamer, AE Chudley, J Harris, ...
Journal of medical genetics 56 (2), 89-95, 2019
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome
JS Benjamin, GO Pilarowski, GA Carosso, L Zhang, DL Huso, LA Goff, ...
Proceedings of the National Academy of Sciences 114 (1), 125-130, 2017
Overlapping euchromatin/heterochromatin-associated marks are enriched in imprinted gene regions and predict allele-specific modification
B Wen, H Wu, H Bjornsson, RD Green, R Irizarry, AP Feinberg
Genome research 18 (11), 1806-1813, 2008
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries
A Palsdottir, A Helgason, S Palsson, HT Bjornsson, BT Bragason, ...
PLoS Genet 4 (6), e1000099, 2008
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
V Okur, MT Cho, L Henderson, K Retterer, M Schneider, S Sattler, ...
Human genetics 135 (7), 699-705, 2016
The new field of epigenomics: implications for cancer and other common disease research
HT Bjornsson, H Cui, D Gius, MD Fallin, AP Feinberg
Cold Spring Harbor symposia on quantitative biology 69, 447, 2004
Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction
J Weissman, S Naidu, HT Bjornsson
Seminars in neurology 34 (3), 249, 2014
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
GO Pilarowski, HJ Vernon, CD Applegate, L Boukas, MT Cho, CA Gurnett, ...
Journal of medical genetics 55 (8), 561-566, 2018
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
N Sobreira, M Brucato, L Zhang, C Ladd-Acosta, C Ongaco, J Romm, ...
European Journal of Human Genetics 25 (12), 1335-1344, 2017
The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system
MI Sigurdsson, AV Smith, HT Bjornsson, JJ Jonsson
BMC genetics 13 (1), 1-7, 2012
Coexpression patterns define epigenetic regulators associated with neurological dysfunction
L Boukas, JM Havrilla, PF Hickey, AR Quinlan, HT Bjornsson, KD Hansen
Genome research 29 (4), 532-542, 2019
論文 1–20