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H. Bjornsson · SciRah

Researcher profile · Semantic Scholar

H. Bjornsson

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H. Bjornsson — researcher profile on SciRah

h-index: 27
Works: 81
Citations: 3,664

Most-cited papers

Intra-individual change over time in DNA methylation with familial clustering.
H. Bjornsson, Martin I. Sigurdsson, M. D. Fallin, R. Irizarry +12 more
2008Journal of the American Medical Association (JAMA)716 citations Open access
Semantic Scholar
An integrated epigenetic and genetic approach to common human disease.
H. Bjornsson, M. D. Fallin, A. Feinberg
2004Trends in Genetics456 citations
Semantic Scholar
Kabuki syndrome: international consensus diagnostic criteria
M. Adam, S. Banka, H. Bjornsson, O. Bodamer +10 more
2018Journal of Medical Genetics218 citations Open access
Semantic Scholar
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome
H. Bjornsson, J. Benjamin, Li Zhang, Jacqueline Weissman +6 more
2014Science Translational Medicine185 citations Open access
Semantic Scholar
The Mendelian disorders of the epigenetic machinery
H. Bjornsson
2015Genome Research182 citations Open access
Semantic Scholar
Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States
J. Fahrner, H. Bjornsson
2014Annual review of genomics and human genetics (Print)148 citations Open access
Semantic Scholar
Recommendations for the Integration of Genomics into Clinical Practice
S. Bowdin, A. Gilbert, E. Bedoukian, C. Carew +41 more
2016Genetics in Medicine134 citations Open access
Semantic Scholar
Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.
J. Fahrner, H. Bjornsson
2019Human Molecular Genetics130 citations Open access
Semantic Scholar
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome
J. Benjamin, Genay O. Pilarowski, Giovanni A. Carosso, Li Zhang +5 more
2016Proceedings of the National Academy of Sciences of the United States of America117 citations Open access
Semantic Scholar
Universal prediction of cell-cycle position using transfer learning
Shijie C. Zheng, G. Stein-O’Brien, Jonathan J Augustin, Jared Slosberg +6 more
2021Genome Biology111 citations Open access
Semantic Scholar
HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination.
Martin I. Sigurdsson, A. Smith, H. Bjornsson, J. Jonsson
2009Genome Research79 citations Open access
Semantic Scholar
SNP-specific array-based allele-specific expression analysis.
H. Bjornsson, T. Albert, C. Ladd-Acosta, Roland D. Green +5 more
2008Genome Research79 citations Open access
Semantic Scholar
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
V. Okur, M. Cho, Lindsay B. Henderson, K. Retterer +16 more
2016Human Genetics78 citations
Semantic Scholar
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
S. Sheppard, I. Campbell, M. Harr, Nina B. Gold +99 more
2021American Journal of Medical Genetics. Part A66 citations Open access
Semantic Scholar
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
N. Sobreira, M. Brucato, Li Zhang, C. Ladd-Acosta +11 more
2017European Journal of Human Genetics60 citations Open access
Semantic Scholar
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
Genay O. Pilarowski, H. Vernon, C. Applegate, Leandros Boukas +15 more
2017Journal of Medical Genetics60 citations Open access
Semantic Scholar
Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.
Giovanni A. Carosso, Leandros Boukas, Jonathan J Augustin, Ha Nam Nguyen +7 more
2019JCI Insight51 citations Open access
Semantic Scholar
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
V. Faundes, S. Goh, Rhoda Akilapa, H. Bezuidenhout +40 more
2021Genetics in Medicine50 citations Open access
Semantic Scholar
Coexpression patterns define epigenetic regulators associated with neurological dysfunction
Leandros Boukas, James M. Havrilla, P. Hickey, A. Quinlan +2 more
2018bioRxiv47 citations Open access
Semantic Scholar
Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome
Li Zhang, Genay O. Pilarowski, E. Pich, A. Nakatani +9 more
2020bioRxiv40 citations Open access
Semantic Scholar
Overlapping euchromatin/heterochromatin- associated marks are enriched in imprinted gene regions and predict allele-specific modification.
B. Wen, Hao Wu, H. Bjornsson, Roland D. Green +2 more
2008Genome Research40 citations Open access
Semantic Scholar
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E. M. Stephenson, G. Costain, Laura E R Blok, Michael Silk +100 more
2022American Journal of Human Genetics38 citations Open access
Semantic Scholar
Precocious Chondrocyte Differentiation Disrupts Skeletal Growth in Kabuki Syndrome Mice
J. Fahrner, Wan-Ying Lin, Ryan C. Riddle, Leandros Boukas +6 more
2019bioRxiv37 citations Open access
Semantic Scholar
Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance
O. Schnappauf, Qing Zhou, N. S. Moura, A. Ombrello +18 more
2020Journal of Clinical Immunology35 citations Open access
Semantic Scholar
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
J. Harris, Christine W. Gao, Jacquelyn F. Britton, C. Applegate +2 more
2023Human Genetics34 citations Open access
Semantic Scholar
A Drastic Reduction in the Life Span of Cystatin C L68Q Carriers Due to Life-Style Changes during the Last Two Centuries
A. Palsdottir, A. Helgason, S. Pálsson, H. Bjornsson +5 more
2008PLoS Genetics34 citations Open access
Semantic Scholar
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
S. Choufani, Vanda McNiven, C. Cytrynbaum, M. Jangjoo +58 more
2022American Journal of Human Genetics30 citations Open access
Semantic Scholar
The new field of epigenomics: implications for cancer and other common disease research.
H. Bjornsson, H. Cui, David Gius, M. D. Fallin +1 more
2004Cold Spring Harbor Symposia on Quantitative Biology23 citations Open access
Semantic Scholar
Abnormalities of the DNA Methylation Mark and Its Machinery: An Emerging Cause of Neurologic Dysfunction
Jacqueline Weissman, S. Naidu, H. Bjornsson
2014Seminars in neurology22 citations Open access
Semantic Scholar
The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system
Martin I. Sigurdsson, A. Smith, H. Bjornsson, J. Jonsson
2012BMC Genetics22 citations Open access
Semantic Scholar
Abnormal Peyer's patch development and B cell gut homing drive IgA deficiency in Kabuki syndrome.
Genay O. Pilarowski, Tareian A. Cazares, Li Zhang, J. Benjamin +7 more
2019Journal of Allergy and Clinical Immunology21 citations Open access
Semantic Scholar
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X
B. Migeon, Michael A. Beer, H. Bjornsson
2017bioRxiv21 citations Open access
Semantic Scholar
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
T. Luperchio, Leandros Boukas, Li Zhang, G. Pilarowski +4 more
2020bioRxiv19 citations Open access
Semantic Scholar
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition
Christine W. Gao, WanYing Lin, Ryan C. Riddle, Priyanka Kushwaha +4 more
2023JCI Insight18 citations Open access
Semantic Scholar
Promoter CpG density predicts downstream gene loss-of-function intolerance
Leandros Boukas, H. Bjornsson, K. Hansen
2020bioRxiv18 citations Open access
Semantic Scholar
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Brian J. Shayota, T. Donti, Jing Xiao, C. Gijavanekar +12 more
2020Molecular Genetics and Metabolism18 citations Open access
Semantic Scholar
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing
R. Ng, J. Harris, J. Fahrner, H. Bjornsson
2022Journal of the International Neuropsychological Society16 citations Open access
Semantic Scholar
Clinical epigenetics: a primer for the practitioner
Deniz Aygun, H. Bjornsson
2019Developmental Medicine & Child Neurology16 citations Open access
Semantic Scholar
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
Tinna Reynisdottir, K. Anderson, Leandros Boukas, H. Bjornsson
2022bioRxiv13 citations Open access
Semantic Scholar
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
Jasmine Lee-Barber, T. English, Jacquelyn F. Britton, N. Sobreira +3 more
2019JIMD Reports13 citations Open access
Semantic Scholar
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature
A. Kalinousky, Tyler Rapp, H. Hijazi, J. Johnson +2 more
2022Frontiers in Genetics12 citations Open access
Semantic Scholar
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases
M. Koenig, S. Russo, K. McBride, H. Bjornsson +3 more
2022JIMD Reports10 citations Open access
Semantic Scholar
Anxiety in Wiedemann–Steiner syndrome
R. Ng, H. Bjornsson, J. Fahrner, J. Harris
2022American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
G. Arnadottir, A. Oddsson, B. Jensson, S. Gisladottir +29 more
2022Nature Communications10 citations Open access
Semantic Scholar
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
Elin Ola Klemenzdottir, G. Arnadottir, B. Jensson, A. Jonasdottir +16 more
2023European Journal of Human Genetics9 citations Open access
Semantic Scholar
Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome.
R. Ng, H. Bjornsson, J. Fahrner, J. Harris
2023Archives of Clinical Neuropsychology9 citations Open access
Semantic Scholar
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia
Sangwoo T. Han, Katherine J Anderson, H. Bjornsson, N. Longo +1 more
2022Journal of Inherited Metabolic Disease8 citations Open access
Semantic Scholar
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
M. Jefri, Xin Zhang, P. Stumpf, Li Zhang +15 more
2022Human Molecular Genetics8 citations Open access
Semantic Scholar
Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome
C. Theodore-Oklota, S. Egan, M. Paulich, C. Evans +3 more
2020American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
T. Luperchio, C. Applegate, O. Bodamer, H. Bjornsson
2019Molecular Genetics & Genomic Medicine8 citations Open access
Semantic Scholar

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