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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
Under construction throughout the autumn semester 2023
 
Courses 2023 - 2024
LÆK620F - Information technology in health sciences
Published works
2023
Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice
Growth retardation in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1
Novel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition
JCI Insight
2022
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
PLOS Genetics
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Nature communications
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia.
Molecular genetics & genomic medicine
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.
Frontiers in genetics
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing.
Journal of the International Neuropsychological Society : JINS
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
American journal of human genetics
Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.
Journal of intellectual disability research : JIDR
Anxiety in Wiedemann-Steiner syndrome.
American journal of medical genetics. Part A
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
Human molecular genetics
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
American journal of human genetics
Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome.
Frontiers in genetics
[Increased use of genetic health care in Iceland 2012-2017].
Laeknabladid
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia
Journal of Inherited Metabolic Disease
2021
A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada.
Advances in therapy
Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome.
Molecular therapy. Methods & clinical development
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
European journal of human genetics : EJHG
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genetics in medicine : official journal of the American College of Medical Genetics
Universal prediction of cell cycle position using transfer learning
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
eLife
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
American journal of medical genetics. Part A
2020
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Molecular genetics and metabolism
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Journal of clinical immunology
Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome.
American journal of medical genetics. Part A
Promoter CpG density predicts downstream gene loss-of-function intolerance
Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation
Natural selection acts on epigenetic marks
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
Molecular Genetics & Genomic Medicine
Clinical epigenetics: a primer for the practitioner
Developmental Medicine & Child Neurology
2019
Molecularly confirmed Kabuki (Niikawa‐Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities
Journal of Intellectual Disability Research
[Playing god - progress in genomic medicine].
Laeknabladid
Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.
Human molecular genetics
Coexpression patterns define epigenetic regulators associated with neurological dysfunction
Genome Research
Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome.
The Journal of allergy and clinical immunology
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.
JCI insight
2018
Transcriptional suppression from KMT2D loss disrupts cell cycle and hypoxic responses in neurodevelopmental models of Kabuki syndrome:
Co-expression patterns define epigenetic regulators associated with neurological dysfunction
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
JIMD reports
Kabuki syndrome: international consensus diagnostic criteria.
Journal of medical genetics
2017
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
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
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X
PLOS ONE
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Journal of medical genetics
2016
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Recommendations for the integration of genomics into clinical practice
Genetics in Medicine
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
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.
Intra-individual change over time in DNA methylation with familial clustering.
Overlapping euchromatin/heterochromatin- associated marks are enriched in imprinted gene regions and predict allele-specific modification.
SNP-specific array-based allele-specific expression analysis.
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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