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List of works by Hans Bjornsson

A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries

scientific article

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

scientific article published on 20 December 2016

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

scientific article

An integrated epigenetic and genetic approach to common human disease

scientific article published on 01 August 2004

Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency

scientific article published on 20 June 2018

Clinical epigenetics: a primer for the practitioner

scientific article published on 20 November 2019

Co-expression patterns define epigenetic regulators associated with neurological dysfunction

Coexpression patterns define epigenetic regulators associated with neurological dysfunction

scientific article published on 11 March 2019

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

scientific article published on 5 April 2016

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

scientific article

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

scientific article

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

scientific article published on 8 August 2007

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

scientific article published on 21 January 2009

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

scientific article published on 08 December 2019

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

scientific article published on October 2014

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

scientific article

Kabuki syndrome: international consensus diagnostic criteria

scientific article published on 04 December 2018

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

scientific article

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

scientific article published on 2 September 2017

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

scientific article published on 14 February 2019

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

scientific article published on 10 October 2008

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

scientific article

Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice

scientific article published on 17 October 2019

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

SNP-specific array-based allele-specific expression analysis

scientific article

The Mendelian disorders of the epigenetic machinery

scientific article published on October 2015

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

scientific article

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

scientific article

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

scientific article published on 30 January 2006

[Playing god - progress in genomic medicine]

scientific article published on 01 March 2019

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