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Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder

Molecular psychiatry, 2012-09, Vol.17 (9), p.880-886

2012

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Utility of long-read sequencing for All of Us

Nature communications, 2024-01, Vol.15 (1), p.837-837, Article 837

2024

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Schizophrenia risk from complex variation of complement component 4

Nature (London), 2016-02, Vol.530 (7589), p.177-183

2016

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Early-Onset Psychosis and Gray and White Matter Volume Abnormalities

The Neuroscientist (Baltimore, Md.), 2024-08, Vol.30 (4), p.398-398

2024

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Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

American journal of human genetics, 2012-10, Vol.91 (4), p.597-607

2012

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Diversity of Human Copy Number Variation and Multicopy Genes

Science (American Association for the Advancement of Science), 2010-10, Vol.330 (6004), p.641-646

2010

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Skewed X-inactivation is common in the general female population

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.455-465

2019

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Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

Science (American Association for the Advancement of Science), 2021-09, Vol.373 (6562), p.1499-1505

2021

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Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Nature genetics, 2016-06, Vol.48 (6), p.593-599

2016

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Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Nature communications, 2019-07, Vol.10 (1), p.2985-11, Article 2985

2019

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Large multiallelic copy number variations in humans

Nature genetics, 2015-03, Vol.47 (3), p.296-303

2015

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Nature genetics, 2013-03, Vol.45 (3), p.299-303

2013

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An integrated map of genetic variation from 1,092 human genomes

Nature (London), 2012-11, Vol.491 (7422), p.56-65

2012

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Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Nature communications, 2022-09, Vol.13 (1), p.5674-5674, Article 5674

2022

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Mapping copy number variation by population-scale genome sequencing

Nature (London), 2011-02, Vol.470 (7332), p.59-65

2011

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Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease

PLoS genetics, 2018-03, Vol.14 (3), p.e1007293-e1007293

2018

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Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer

Cell, 2023-08, Vol.186 (17), p.3659-3673.e23

2023

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Protein-altering variants at copy number-variable regions influence diverse human phenotypes

Nature genetics, 2024-04, Vol.56 (4), p.569-578

2024

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Contribution of retrotransposition to developmental disorders

Nature communications, 2019-10, Vol.10 (1), p.4630-10, Article 4630

2019

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Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

Nature genetics, 2015-08, Vol.47 (8), p.921-925

2015

Volltextzugriff (PDF)

Genetic effects on gene expression across human tissues

Nature (London), 2017-10, Vol.550 (7675), p.204-213

2017

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Landscape of X chromosome inactivation across human tissues

Nature (London), 2017-10, Vol.550 (7675), p.244-248

2017

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The impact of sex on gene expression across human tissues

Science (American Association for the Advancement of Science), 2020-09, Vol.369 (6509)

2020

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A global reference for human genetic variation

Nature (London), 2015-10, Vol.526 (7571), p.68-74

2015

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Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder

Utility of long-read sequencing for All of Us

Schizophrenia risk from complex variation of complement component 4

Early-Onset Psychosis and Gray and White Matter Volume Abnormalities

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

Diversity of Human Copy Number Variation and Multicopy Genes

Skewed X-inactivation is common in the general female population

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Large multiallelic copy number variations in humans

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

An integrated map of genetic variation from 1,092 human genomes

Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Mapping copy number variation by population-scale genome sequencing

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease

Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer

Protein-altering variants at copy number-variable regions influence diverse human phenotypes

Contribution of retrotransposition to developmental disorders

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

Genetic effects on gene expression across human tissues

Landscape of X chromosome inactivation across human tissues

The impact of sex on gene expression across human tissues

A global reference for human genetic variation

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