Publications by authors named "Hans T Bjornsson"

29Publications

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

Am J Hum Genet 2020 09 14;107(3):487-498. Epub 2020 Aug 14.

Department of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, MD 21205, USA; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe St, Baltimore, MD 21205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477270PMC
September 2020

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

J Allergy Clin Immunol 2020 03 6;145(3):982-992. Epub 2019 Dec 6.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Md; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Md; Faculty of Medicine, University of Iceland, Reykjavik, Iceland; Department of Genetics and Molecular Biology, Landspitali University Hospital, Reykjavik, Iceland.

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http://dx.doi.org/10.1016/j.jaci.2019.11.034DOI Listing
March 2020

Clinical epigenetics: a primer for the practitioner.

Dev Med Child Neurol 2020 02 20;62(2):192-200. Epub 2019 Nov 20.

McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1111/dmcn.14398DOI Listing
February 2020

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

Hum Mol Genet 2019 11;28(R2):R254-R264

McKusick-Nathans Institute of Genetic Medicine, 21205.

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http://dx.doi.org/10.1093/hmg/ddz174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6872430PMC
November 2019

Coexpression patterns define epigenetic regulators associated with neurological dysfunction.

Genome Res 2019 04 11;29(4):532-542. Epub 2019 Mar 11.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://genome.cshlp.org/lookup/doi/10.1101/gr.239442.118
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http://dx.doi.org/10.1101/gr.239442.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442390PMC
April 2019

Kabuki syndrome: international consensus diagnostic criteria.

J Med Genet 2019 02 4;56(2):89-95. Epub 2018 Dec 4.

President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2018-105625DOI Listing
February 2019

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

PLoS One 2017 12;12(4):e0170403. Epub 2017 Apr 12.

McKusick Nathans Institute of Genetic Medicine, Baltimore, MD, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170403PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389809PMC
April 2017

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

Proc Natl Acad Sci U S A 2017 01 20;114(1):125-130. Epub 2016 Dec 20.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

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http://dx.doi.org/10.1073/pnas.1611431114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224378PMC
January 2017

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

Sci Transl Med 2014 Oct;6(256):256ra135

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Howard Hughes Medical Institute, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1126/scitranslmed.3009278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406328PMC
October 2014

Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction.

Semin Neurol 2014 Jul 5;34(3):249-57. Epub 2014 Sep 5.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1055/s-0034-1386763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512289PMC
July 2014

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

Annu Rev Genomics Hum Genet 2014 ;15:269-93

McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205; email: ,

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http://dx.doi.org/10.1146/annurev-genom-090613-094245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406255PMC
May 2015

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

BMC Genet 2012 Apr 24;13:31. Epub 2012 Apr 24.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, Reykjavík IS-101, Iceland.

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http://dx.doi.org/10.1186/1471-2156-13-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352111PMC
April 2012

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

Gene 2012 Jan 7;492(1):104-9. Epub 2011 Nov 7.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, IS-101, and Department of Genetics and Molecular Medicine, Landspitali-University Hospital, Reykjavik, IS-101, Iceland.

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http://dx.doi.org/10.1016/j.gene.2011.10.046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475724PMC
January 2012

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

Genome Res 2009 Apr 21;19(4):581-9. Epub 2009 Jan 21.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, IS-101 Reyjavik , Iceland.

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http://dx.doi.org/10.1101/gr.086181.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665777PMC
April 2009

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

Genome Res 2008 May 27;18(5):771-9. Epub 2008 Mar 27.

Department of Medicine and Center for Epigenetics, Institute of Basic Biomedical Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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https://biostat.wisc.edu/~kbroman/publications/bjornsson.pdf
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http://www.genome.org/cgi/doi/10.1101/gr.073254.107
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http://dx.doi.org/10.1101/gr.073254.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2336807PMC
May 2008

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

J Natl Cancer Inst 2007 Aug 8;99(16):1270-3. Epub 2007 Aug 8.

Center for Epigenetics, Institute of Basic Biomedical Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1093/jnci/djm069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533193PMC
August 2007

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

Gene 2006 Mar 30;370:43-50. Epub 2006 Jan 30.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, Iceland.

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http://dx.doi.org/10.1016/j.gene.2005.11.011DOI Listing
March 2006

An integrated epigenetic and genetic approach to common human disease.

Trends Genet 2004 Aug;20(8):350-8

Department of Epidemiology, John Hopkins Bloomberg School of Public Health, 615 N. Wolfe Street, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.tig.2004.06.009DOI Listing
August 2004