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Down syndrome and the complexity of genome dosage imbalance

Nature reviews. Genetics, 2017-03, Vol.18 (3), p.147

Antonarakis, Stylianos E

2017

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human mutation, 2016-06, Vol.37 (6), p.564-569

2016

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

Nature (London), 2015-10, Vol.526 (7572), p.212-217

2015

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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

PLoS genetics, 2015-01, Vol.11 (1), p.e1004958-e1004958

2015

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Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

Proceedings of the National Academy of Sciences - PNAS, 2018-12, Vol.115 (51), p.13015-13020

2018

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Genetic and Epigenetic Regulation of Human lincRNA Gene Expression

American journal of human genetics, 2013-12, Vol.93 (6), p.1015-1026

2013

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APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

Genome research, 2016-02, Vol.26 (2), p.174

2016

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

Nature reviews. Genetics, 2007-08, Vol.8 (8), p.639-646

2007

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Carrier screening for recessive disorders

Nature reviews. Genetics, 2019-09, Vol.20 (9), p.549

Antonarakis, Stylianos E

2019

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Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing

Cell reports (Cambridge), 2018-02, Vol.22 (6), p.1589-1599

2018

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Biased Allelic Expression in Human Primary Fibroblast Single Cells

American journal of human genetics, 2015-01, Vol.96 (1), p.70-80

2015

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Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

Genome research, 2013-09, Vol.23 (9), p.1554

2013

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Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells

Nature communications, 2017-10, Vol.8 (1), p.1212-15, Article 1212

2017

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Gene duplication: a drive for phenotypic diversity and cause of human disease

Annual review of genomics and human genetics, 2007-01, Vol.8 (1), p.17-35

2007

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DNA methylation profiles of human active and inactive X chromosomes

Genome research, 2011-10, Vol.21 (10), p.1592

2011

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Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

Science (American Association for the Advancement of Science), 2009-09, Vol.325 (5945), p.1246-1250

2009

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Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

American journal of human genetics, 2017-03, Vol.100 (3), p.444-453

2017

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The effect of genetic variation on promoter usage and enhancer activity

Nature communications, 2017-11, Vol.8 (1), p.1358-9, Article 1358

2017

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Whole-Genome Association Study of Major Determinants for Host Control of HIV-1

Science (American Association for the Advancement of Science), 2007-08, Vol.317 (5840), p.944-947

2007

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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Human molecular genetics, 2015-06, Vol.24 (11), p.3143-3154

2015

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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

American journal of human genetics, 2007-08, Vol.81 (2), p.405-413

2007

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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

Nature communications, 2019-10, Vol.10 (1), p.4495-11, Article 4495

2019

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Down syndrome: from understanding the neurobiology to therapy

The Journal of neuroscience, 2010-11, Vol.30 (45), p.14943-14945

2010

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Short arms of human acrocentric chromosomes and the completion of the human genome sequence

Genome research, 2022-04, Vol.32 (4), p.599

Antonarakis, Stylianos E

2022

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Down syndrome and the complexity of genome dosage imbalance

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

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

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

Genetic and Epigenetic Regulation of Human lincRNA Gene Expression

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

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

Carrier screening for recessive disorders

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing

Biased Allelic Expression in Human Primary Fibroblast Single Cells

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells

Gene duplication: a drive for phenotypic diversity and cause of human disease

DNA methylation profiles of human active and inactive X chromosomes

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

The effect of genetic variation on promoter usage and enhancer activity

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

Whole-Genome Association Study of Major Determinants for Host Control of HIV-1

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

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

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

Down syndrome: from understanding the neurobiology to therapy

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

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