Skip to main content

EN
ÍS

Forsíða

Forsíða

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

Útgefið efni

2024

SMYD5 is a regulator of the mild hypothermia responseCell Reports
Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1PLoS Genetics
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsGenes
KMT2D regulates activation, localization, and integrin expression by T-cellsFrontiers in Immunology
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibitionJCI insight
KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and HumansGenes
Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome miceGenome Research
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndromeGenetics in Medicine Open
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderBrain

2023

Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner SyndromeArchives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists
Five years of experience in the Epigenetics and Chromatin ClinicHuman Genetics
Use of Elamipretide in patients assigned treatment in the compassionate use programJIMD Reports
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndromeEuropean Journal of Human Genetics
The social phenotype associated with Wiedemann-Steiner syndromeAmerican Journal of Medical Genetics, Part A
Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse modelClinical Epigenetics
57 Executive Functioning Correlates with Adaptive Behaviors in Wiedemann-Steiner SyndromeJournal of the International Neuropsychological Society

2022

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemiaJournal of Inherited Metabolic Disease
Universal prediction of cell-cycle position using transfer learningGenome Biology
Neurobehavioral phenotype of Kabuki syndromeFrontiers in Genetics
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)Human Molecular Genetics
Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017Laeknabladid
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeAmerican Journal of Human Genetics
Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017Læknablaðið
Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017Læknablaðið
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome geneNature Communications
Anxiety in Wiedemann–Steiner syndromeAmerican Journal of Medical Genetics, Part A
Sleep disturbance is a common feature of Kabuki syndromeAmerican Journal of Medical Genetics, Part A
Unique profile of academic learning difficulties in Wiedemann–Steiner syndromeJournal of Intellectual Disability Research
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeAmerican Journal of Human Genetics
Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndromeFrontiers in Genetics
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemiaMolecular Genetics and Genomic Medicine
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2PLoS Genetics
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparingJournal of the International Neuropsychological Society : JINS

2021

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeAmerican Journal of Medical Genetics, Part A
Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017Læknablaðið
Sequence variants in malignant hyperthermia genes in IcelandEuropean Journal of Human Genetics
Leveraging the mendelian 1 disorders of the epigenetic machinery to systematically map functional epigenetic variationeLife
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Genetics in Medicine
A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and CanadaAdvances in Therapy
Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndromeMolecular Therapy - Methods and Clinical Development

2020

Promoter CpG Density Predicts Downstream Gene Loss-of-Function IntoleranceAmerican Journal of Human Genetics
Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndromeAmerican Journal of Medical Genetics Part A
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with lifeMolecular Genetics and Genomic Medicine
Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndromeJournal of Allergy and Clinical Immunology
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathwayMolecular Genetics and Metabolism
Clinical epigeneticsDevelopmental Medicine and Child Neurology
ErratumHuman Molecular Genetics
Deficiency of Adenosine Deaminase 2 (DADA2)Journal of Clinical Immunology

2019

Ao leika guo - Framfarir í erfoafræoiLaeknabladid
Kabuki syndromeJournal of Medical Genetics
Mendelian disorders of the epigenetic machineryHuman Molecular Genetics
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome miceJCI insight
Apparent acetaminophen toxicity in a patient with transaldolase deficiency
Að leika guð - framfarir í erfðafræðiLæknablaðið
Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalitiesJournal of Intellectual Disability Research
Að leika guð - framfarir í erfðafræðiLæknablaðið
Coexpression patterns define epigenetic regulators associated with neurological dysfunctionGenome Research
Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndromeJCI insight

2018

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disabilityJournal of Medical Genetics

2017

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalitiesEuropean Journal of Human Genetics
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndromeProceedings 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 XPLoS ONE

2016

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

2015

The Mendelian disorders of the epigenetic machineryGenome Research

2014

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndromeScience Translational Medicine
Mendelian disorders of the epigenetic machineryAnnual Review of Genomics and Human Genetics
Oligodontia and skeletal anomalies in a young boyContemporary Pediatrics
Abnormalities of the DNA methylation mark and its machinerySeminars in Neurology

2012

The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI systemBMC Genetics
Distribution of a marker of germline methylation differs between major families of transposon-derived repeats in the human genomeGene

2009

HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombinationGenome Research

2008

Overlapping euchromatin/heterochromatin-associated marks are enriched in imprinted gene regions and predict allele-specific modificationGenome Research
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuriesPLoS Genetics
Intra-individual change over time in DNA methylation with familial clusteringJAMA - Journal of the American Medical Association
SNP-specific array-based allele-specific expression analysisGenome Research

2007

Epigenetic specificity of loss of imprinting of the IGF2 gene in wilms tumorsJournal of the National Cancer Institute

2006

Transposon-derived repeats in the human genome and 5-methylcytosine- associated mutations in adjacent genesGene

2004

The new field of epigenomicsCold Spring Harbor Symposia on Quantitative Biology
An integrated epigenetic and genetic approach to common human diseaseTrends in Genetics

Sérsvið:

Klínísk erfðafræði

Utangenaerfðir

Barnalækningar