List of works - Stylianos E. Antonarakis

Initial sequencing and comparative analysis of the mouse genome

scientific article

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007

Landscape of transcription in human cells

scientific article (publication date: 6 September 2012)

Transcriptome and genome sequencing uncovers functional variation in humans

scientific article

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

scientific article

Guidelines for investigating causality of sequence variants in human disease

scientific article

The genome sequence of taurine cattle: a window to ruminant biology and evolution

scientific article

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia

scientific article

The DNA sequence of human chromosome 21

scientific article (publication date: 18 May 2000)

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

scientific article published in April 1982

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

scientific article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

GENCODE: producing a reference annotation for ENCODE

scientific article

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

scientific article

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

scientific journal article

Genome-wide associations of gene expression variation in humans

scientific article

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

scientific article

Common genetic variation and the control of HIV-1 in humans

scientific article published in December 2009

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

scientific article

Chromosome 21 and down syndrome: from genomics to pathophysiology

scientific article

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

scientific article

Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP

scientific article (publication date: October 2001)

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

scientific article

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

scientific article published on 4 June 2013

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

scientific article

The effect of genetic variation on promoter usage and enhancer activity

scientific article published on 7 November 2017

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

scientific article

HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation

scientific article

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

scientific article published on 23 October 2005

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

scientific article

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

scientific article

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives

scientific article

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

scientific article

EGASP: the human ENCODE Genome Annotation Assessment Project

scientific article

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

scientific article published in April 1997

Conserved non-genic sequences - an unexpected feature of mammalian genomes

scientific article

BLUEPRINT to decode the epigenetic signature written in blood

scientific article

Genetic structure of Europeans: a view from the North-East

scientific article

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

scientific article published in Nature

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

scientific article published in June 2007

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

scientific article

The implications of alternative splicing in the ENCODE protein complement

scientific article (publication date: 27 March 2007)

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

scientific article published in April 1999

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

scientific article

Tandem chimerism as a means to increase protein complexity in the human genome

scientific article

Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1

scientific article published on December 23, 1997

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

scientific article published on 01 November 1986

Domains of genome-wide gene expression dysregulation in Down's syndrome

scientific article published in April 2014

List of works by Stylianos E. Antonarakis

Initial sequencing and comparative analysis of the mouse genome

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Landscape of transcription in human cells

Transcriptome and genome sequencing uncovers functional variation in humans

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

Guidelines for investigating causality of sequence variants in human disease

The genome sequence of taurine cattle: a window to ruminant biology and evolution

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia

The DNA sequence of human chromosome 21

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

GENCODE: producing a reference annotation for ENCODE

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Genome-wide associations of gene expression variation in humans

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Common genetic variation and the control of HIV-1 in humans

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

Chromosome 21 and down syndrome: from genomics to pathophysiology

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

The effect of genetic variation on promoter usage and enhancer activity

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

EGASP: the human ENCODE Genome Annotation Assessment Project

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Conserved non-genic sequences - an unexpected feature of mammalian genomes

BLUEPRINT to decode the epigenetic signature written in blood

Genetic structure of Europeans: a view from the North-East

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

The implications of alternative splicing in the ENCODE protein complement

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

Tandem chimerism as a means to increase protein complexity in the human genome

Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Domains of genome-wide gene expression dysregulation in Down's syndrome