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Hans Tómas Björnsson - Prófessor

Hans Tómas Björnsson

–

Heilbrigðisvísindasvið

Hans Tómas Björnsson

Prófessor

Aðsetur
Sturlugata 8
Sími
5435070
Tölvupóstur
htb [hjá] hi.is

Starfseining
Læknadeild
Vefsíða
http://www.hi.is/~htb/

ORCID vefsíða
https://orcid.org/0000-0001-6635-6753
Rannsóknagátt – Hans Tómas Björnsson
Í vinnslu út haustmisseri 2023

Útgefið efni

2023

Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice
Novel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition

2022

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
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 AlphaFold2PLOS Genetics
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemiaJournal of Inherited Metabolic Disease
[Increased use of genetic health care in Iceland 2012-2017].Laeknabladid
Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome.Frontiers in genetics
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

2021

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
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.European journal of human genetics : EJHG
Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome.Molecular therapy. Methods & clinical development
A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada.Advances in therapy
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.American journal of medical genetics. Part A
Universal prediction of cell cycle position using transfer learning
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variationeLife

2020

Clinical epigenetics: a primer for the practitionerDevelopmental Medicine & Child Neurology
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
Promoter CpG density predicts downstream gene loss-of-function intolerance
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with lifeMolecular Genetics & Genomic Medicine
Natural selection acts on epigenetic marks
Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation
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

2019

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
[Playing god - progress in genomic medicine].Laeknabladid
Molecularly confirmed Kabuki (Niikawa‐Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalitiesJournal of Intellectual Disability Research
Coexpression patterns define epigenetic regulators associated with neurological dysfunctionGenome Research
Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.Human molecular genetics

2018

Kabuki syndrome: international consensus diagnostic criteria.Journal of medical genetics
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

2017

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.Journal of medical genetics
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
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active XPLOS ONE
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.European journal of human genetics : EJHG

2016

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Recommendations for the integration of genomics into clinical practiceGenetics in Medicine

2015

The Mendelian disorders of the epigenetic machinery.

2014

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.
Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction.

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.
Overlapping euchromatin/heterochromatin- associated marks are enriched in imprinted gene regions and predict allele-specific modification.
SNP-specific array-based allele-specific expression analysis.
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

The new field of epigenomics: implications for cancer and other common disease research.
An integrated epigenetic and genetic approach to common human disease.

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