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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

Útgefið efni

2024

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

2025

N-Acetylcysteine for Hereditary Cystatin C Amyloid Angiopathy: A Nonrandomized Clinical TrialJAMA Neurology

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
57 Executive Functioning Correlates with Adaptive Behaviors in Wiedemann-Steiner SyndromeJournal of the International Neuropsychological Society
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndromeEuropean Journal of Human Genetics
Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse modelClinical Epigenetics
The social phenotype associated with Wiedemann-Steiner syndromeAmerican Journal of Medical Genetics, Part A
Use of Elamipretide in patients assigned treatment in the compassionate use programJIMD Reports

2022

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

2021

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

2020

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

2019

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

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
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalitiesEuropean Journal of Human Genetics

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

Abnormalities of the DNA methylation mark and its machinerySeminars in Neurology
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

2012

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

2009

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

2008

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
Overlapping euchromatin/heterochromatin-associated marks are enriched in imprinted gene regions and predict allele-specific modificationGenome Research
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

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

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