H. Bjornsson

发表

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance.

K. Hansen, H. Bjornsson, Leandros Boukas, 2020, American journal of human genetics.

The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system

Albert Vernon Smith, J. Jonsson, Martin I. Sigurdsson, 2012, BMC Genetics.

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

Albert Vernon Smith, J. Jonsson, Martin I. Sigurdsson, 2009, Genome research.

Promoter CpG density predicts downstream gene loss-of-function intolerance

K. Hansen, H. Bjornsson, Leandros Boukas, 2020, bioRxiv.

Coexpression patterns define epigenetic regulators associated with neurological dysfunction

K. Hansen, A. Quinlan, P. Hickey, 2019, Genome research.

Co-expression patterns define epigenetic regulators associated with neurological dysfunction

K. Hansen, A. Quinlan, H. Bjornsson, 2018, bioRxiv.

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.

K. Hansen, L. Goff, B. Winer, 2019, JCI insight.

Use of Elamipretide in Patients Assigned Treatment in the Compassionate Use Program: Case Series in Four Rare Orphan Diseases

K. McBride, H. Bjornsson, S. Russo, 2021 .

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

D. Kastner, J. Chiorini, N. Sobreira, 2020, Journal of 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 pathway.

R. Ganetzky, V. Sutton, H. Bjornsson, 2020, Molecular genetics and metabolism.

Sleep disturbance is a common feature of Kabuki syndrome

H. Bjornsson, Tyler Rapp, Jacqueline Harris, 2022, American journal of medical genetics. Part A.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

KMT2D Regulates thymic Egress by Modulating Maturation and integrin Expression

A. Barski, H. Bjornsson, Leandros Boukas, 2022, bioRxiv.

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature

H. Bjornsson, Tyler Rapp, H. Hijazi, 2022, Frontiers in Genetics.

Natural selection acts on epigenetic marks

K. Hansen, H. Bjornsson, Leandros Boukas, 2022, bioRxiv.

Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing

H. Bjornsson, J. A. Fahrner, R. Ng, 2022, Journal of the International Neuropsychological Society.

Intra-individual change over time in DNA methylation with familial clustering.

A. Feinberg, M. Leppert, C. Sapienza, 2008, JAMA.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

An integrated epigenetic and genetic approach to common human disease.

Andrew P Feinberg, M Daniele Fallin, A. Feinberg, 2004, Trends in genetics : TIG.

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia

D. Valle, N. Longo, H. Bjornsson, 2022, Journal of inherited metabolic disease.

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

Carolyn D Applegate, H. Bjornsson, O. Bodamer, 2019, Molecular genetics & genomic medicine.

The Mendelian disorders of the epigenetic machinery

H. Bjornsson, 2015, Genome research.

The new field of epigenomics: implications for cancer and other common disease research.

A. Feinberg, M. Fallin, H. Bjornsson, 2004, Cold Spring Harbor symposia on quantitative biology.

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

K. Hansen, H. Bjornsson, Leandros Boukas, 2020, bioRxiv.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

I. Krantz, L. Medne, E. Beaver, 2017, Journal of Medical Genetics.

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

J. Jonsson, L. M. Ellingsen, H. Bjornsson, 2006, Gene.

Kabuki syndrome: international consensus diagnostic criteria

N. Niikawa, G. Merla, S. Banka, 2018, Journal of Medical Genetics.

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.

H. Bjornsson, J. A. Fahrner, 2014, Annual review of genomics and human genetics.

Precocious Chondrocyte Differentiation Disrupts Skeletal Growth in Kabuki Syndrome Mice

Susan E. Lad, K. Hansen, H. Bjornsson, 2019, bioRxiv.

Distribution of a marker of germline methylation differs between major families of transposon-derived repeats in the human genome.

J. Jonsson, Martin I. Sigurdsson, H. Bjornsson, 2012, Gene.

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2

H. Bjornsson, Leandros Boukas, K. Anderson, 2022, bioRxiv.

Purifying selection acts on germline methylation to modify the CpG mutation rate at promoters

K. Hansen, H. Bjornsson, Leandros Boukas, 2020 .

SNP-specific array-based allele-specific expression analysis.

A. Feinberg, R. Irizarry, R. Green, 2008, Genome research.

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Sharyn A. Lincoln, W. Chung, M. Tarnopolsky, 2016, Human Genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

D. Valle, K. Doheny, C. Ladd-Acosta, 2017, European Journal of Human Genetics.

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

K. Hansen, H. Dietz, H. Bjornsson, 2014, Science Translational Medicine.

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

A. Feinberg, R. Irizarry, R. Green, 2008, Genome research.

Universal prediction of cell-cycle position using transfer learning

Shijie C. Zheng, K. Hansen, L. Goff, 2022, Genome biology.

Universal prediction of cell-cycle position using transfer learning

Shijie C. Zheng, K. Hansen, L. Goff, 2021, Genome Biology.

A Drastic Reduction in the Life Span of Cystatin C L68Q Carriers Due to Life-Style Changes during the Last Two Centuries

U. Thorsteinsdóttir, K. Stefánsson, A. Helgason, 2008, PLoS genetics.

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome

K. Hansen, L. Goff, B. Winer, 2018 .

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.

H. Bjornsson, J. A. Fahrner, 2019, Human molecular genetics.

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

D. Kastner, J. Chiorini, N. Sobreira, 2020, Journal of Clinical Immunology.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Abnormalities of the DNA Methylation Mark and Its Machinery: An Emerging Cause of Neurologic Dysfunction

S. Naidu, H. Bjornsson, Jacqueline Weissman, 2014, Seminars in Neurology.

Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X

Michael A. Beer, B. Migeon, M. Beer, 2017, bioRxiv.

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database

A. Jonasdottir, Á. Jónasdóttir, U. Thorsteinsdóttir, 2021, European Journal of Human Genetics.

Transcriptional suppression from KMT2D loss disrupts cell cycle and hypoxic responses in neurodevelopmental models of Kabuki syndrome

K. Hansen, L. Goff, B. Winer, 2018, bioRxiv.

Clinical epigenetics: a primer for the practitioner

H. Bjornsson, Deniz Aygun, 2019, Developmental medicine and child neurology.

Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors.

A. Feinberg, Jian-Bing Fan, M. Fallin, 2007, Journal of the National Cancer Institute.

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

D. Gudbjartsson, A. Jonasdottir, Á. Jónasdóttir, 2022, Nature Communications.

Abnormal Peyer's patch development and B cell gut homing drive IgA deficiency in Kabuki syndrome.

A. Barski, H. Bjornsson, A. Lindsley, 2019, The Journal of allergy and clinical immunology.

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

H. Bjornsson, J. A. Fahrner, Jacquelyn F Britton, 2023, Human genetics.

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

K. McBride, H. Bjornsson, M. Koenig, 2022, JIMD reports.

Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

D. Valle, N. Sobreira, H. Bjornsson, 2019, JIMD reports.

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia

G. Sigfússon, H. Bjornsson, H. Vernon, 2022, Molecular genetics & genomic medicine.

A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome

K. Hansen, L. Goff, H. Bjornsson, 2016, Proceedings of the National Academy of Sciences.

Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome

H. Bjornsson, E. Pich, J. Dunlop, 2020, bioRxiv.

The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality

H. Bjornsson, J. A. Fahrner, R. Ng, 2023, American journal of medical genetics. Part A.

Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.

H. Bjornsson, J. A. Fahrner, J. Harris, 2022, Journal of intellectual disability research : JIDR.

Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.

E. Mahone, H. Bjornsson, J. Harris, 2019, Journal of intellectual disability research : JIDR.

Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice

H. Bjornsson, Leandros Boukas, Afrooz Razi, 2023, bioRxiv.

Anxiety in Wiedemann–Steiner syndrome

H. Bjornsson, J. A. Fahrner, R. Ng, 2022, American journal of medical genetics. Part A.

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

H. Bjornsson, J. A. Fahrner, R. Ng, 2022, Frontiers in Genetics.

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

A. Sigurdsson, A. Jonasdottir, Á. Jónasdóttir, 2023, European journal of human genetics : EJHG.

SMYD5 is a novel epigenetic gatekeeper of the mild hypothermia response

F. Northington, H. Bjornsson, R. Chavez-Valdez, 2023, bioRxiv.