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Hans Tómas Björnsson - Professor
–
School of Health Sciences
Hans Tómas Björnsson
Íslenska
Professor
Location
Sturlugata 8
Phone
5435070
Email
htb [at] hi.is
Unit
Faculty of Medicine
Website
http://www.hi.is/~htb/
ORCID site
https://orcid.org/0000-0001-6635-6753
Research portal – Hans Tómas Björnsson
Courses 2021 - 2022
LÆK620F - Information technology in health sciences
Published works
2022
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia
Journal of Inherited Metabolic Disease
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
PLOS Genetics
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
2021
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
eLife
Universal prediction of cell cycle position using transfer learning
2020
Natural selection acts on epigenetic marks
Clinical epigenetics: a primer for the practitioner
Developmental Medicine & Child Neurology
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
Molecular Genetics & Genomic Medicine
Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation
Promoter CpG density predicts downstream gene loss-of-function intolerance
2019
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice
JCI Insight
[Playing god - progress in genomic medicine].
Laeknabladid
Coexpression patterns define epigenetic regulators associated with neurological dysfunction
Genome Research
Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities
Journal of Intellectual Disability Research
2018
Co-expression patterns define epigenetic regulators associated with neurological dysfunction
Kabuki syndrome: international consensus diagnostic criteria.
Journal of medical genetics
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
JIMD reports
Transcriptional suppression from KMT2D loss disrupts cell cycle and hypoxic responses in neurodevelopmental models of Kabuki syndrome:
2017
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Journal of medical genetics
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
European journal of human genetics : EJHG
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.
Proceedings of the National Academy of Sciences of the United States of America
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X
PLOS ONE
2016
Recommendations for the integration of genomics into clinical practice
Genetics in Medicine
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
2015
The Mendelian disorders of the epigenetic machinery.
2014
Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction.
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.
Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.
2012
The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system.
Distribution of a marker of germline methylation differs between major families of transposon-derived repeats in the human genome.
2009
HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination.
2008
Intra-individual change over time in DNA methylation with familial clustering.
SNP-specific array-based allele-specific expression analysis.
Overlapping euchromatin/heterochromatin- associated marks are enriched in imprinted gene regions and predict allele-specific modification.
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.
2007
Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors.
2006
Transposon-derived repeats in the human genome and 5-methylcytosine-associated mutations in adjacent genes.
2004
An integrated epigenetic and genetic approach to common human disease.
The new field of epigenomics: implications for cancer and other common disease research.
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