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CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

Genome research, 2011-06, Vol.21 (6), p.974

2011

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Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis

Science (American Association for the Advancement of Science), 2018-02, Vol.359 (6375), p.550-555

2018

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Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

Genome research, 2014-01, Vol.24 (1), p.14

2014

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Variation in Transcription Factor Binding among Humans

Science (American Association for the Advancement of Science), 2010-04, Vol.328 (5975), p.232-235

2010

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A comprehensive map of mobile element insertion polymorphisms in humans

PLoS genetics, 2011-08, Vol.7 (8), p.e1002236

2011

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Human molecular genetics, 2012-05, Vol.21 (10), p.2205-2210

2012

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Genome amplification and cellular senescence are hallmarks of human placenta development

PLoS genetics, 2018-10, Vol.14 (10), p.e1007698-e1007698

2018

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Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

PloS one, 2011-11, Vol.6 (11), p.e27859-e27859

2011

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Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons

Biological psychiatry (1969), 2021-03, Vol.89 (5), p.497-509

2021

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Local and global chromatin interactions are altered by large genomic deletions associated with human brain development

Nature communications, 2018-12, Vol.9 (1), p.5356-15, Article 5356

2018

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Structural variation in the sequencing era

Nature reviews. Genetics, 2020-03, Vol.21 (3), p.171

2020

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Metabolism of cholesterol and progesterone is differentially regulated in primary trophoblastic subtypes and might be disturbed in recurrent miscarriages

Journal of lipid research, 2019-11, Vol.60 (11), p.1922-1934

2019

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Allele-specific binding of RNA-binding proteins reveals functional genetic variants in the RNA

Nature communications, 2019-03, Vol.10 (1), p.1338-15, Article 1338

2019

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Normalizing RNA-sequencing data by modeling hidden covariates with prior knowledge

PloS one, 2013-07, Vol.8 (7), p.e68141-e68141

2013

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Pdlim7 Regulates Arf6-Dependent Actin Dynamics and Is Required for Platelet-Mediated Thrombosis in Mice

PloS one, 2016-10, Vol.11 (10), p.e0164042-e0164042

2016

Volltextzugriff (PDF)

Synaptic pruning in schizophrenia is not classical

Brain, behavior, and immunity, 2024-08, Vol.120, p.117-118

2024

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Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

Genome Research, 2008-12, Vol.18 (12), p.1865-1874

2008

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Identification of genomic indels and structural variations using split reads

BMC genomics, 2011-07, Vol.12 (1), p.375-375, Article 375

2011

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Neural signatures of sleep in zebrafish

Nature (London), 2019-07, Vol.571 (7764), p.198-204

2019

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Increased activation product of complement 4 protein in plasma of individuals with schizophrenia

Translational psychiatry, 2021-09, Vol.11 (1), p.486-8, Article 486

2021

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Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data

BMC bioinformatics, 2012-11, Vol.13 (1), p.305-305, Article 305

2012

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EBNA1 Regulates Cellular Gene Expression by Binding Cellular Promoters

Proceedings of the National Academy of Sciences - PNAS, 2009-12, Vol.106 (52), p.22421-22426

2009

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Child Development and Structural Variation in the Human Genome

Child development, 2013-01, Vol.84 (1), p.34-48

2013

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Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis

Journal of medical genetics, 2018-11, Vol.55 (11), p.735

2018

Volltextzugriff (PDF)

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

Proceedings of the National Academy of Sciences - PNAS, 2020-03, Vol.117 (9), p.4864-4873

2020

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CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis

Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

Variation in Transcription Factor Binding among Humans

A comprehensive map of mobile element insertion polymorphisms in humans

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Genome amplification and cellular senescence are hallmarks of human placenta development

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons

Local and global chromatin interactions are altered by large genomic deletions associated with human brain development

Structural variation in the sequencing era

Metabolism of cholesterol and progesterone is differentially regulated in primary trophoblastic subtypes and might be disturbed in recurrent miscarriages

Allele-specific binding of RNA-binding proteins reveals functional genetic variants in the RNA

Normalizing RNA-sequencing data by modeling hidden covariates with prior knowledge

Pdlim7 Regulates Arf6-Dependent Actin Dynamics and Is Required for Platelet-Mediated Thrombosis in Mice

Synaptic pruning in schizophrenia is not classical

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

Identification of genomic indels and structural variations using split reads

Neural signatures of sleep in zebrafish

Increased activation product of complement 4 protein in plasma of individuals with schizophrenia

Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data

EBNA1 Regulates Cellular Gene Expression by Binding Cellular Promoters

Child Development and Structural Variation in the Human Genome

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

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