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Sambamba: fast processing of NGS alignment formats

Bioinformatics (Oxford, England), 2015-06, Vol.31 (12), p.2032-2034

2015

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A systematic genome-wide analysis of zebrafish protein-coding gene function

Nature (London), 2013-04, Vol.496 (7446), p.494-497

2013

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Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

American journal of human genetics, 2015-10, Vol.97 (4), p.621-626

2015

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Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Nature methods, 2010-11, Vol.7 (11), p.913

2010

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Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Genetics in medicine, 2016-09, Vol.18 (9), p.949-956

2016

Volltextzugriff (PDF)

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

Genome Biology, 2011-10, Vol.12 (10), p.R103-R103

2011

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Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

Gastroenterology (New York, N.Y. 1943), 2014-07, Vol.147 (1), p.65-68.e10

2014

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Genome-Wide Pattern of TCF7L2/TCF4 Chromatin Occupancy in Colorectal Cancer Cells

Molecular and Cellular Biology, 2008-04, Vol.28 (8), p.2732-2744

2008

Volltextzugriff (PDF)

Pyrosequencing-based comparative genome analysis of the nosocomial pathogen Enterococcus faecium and identification of a large transferable pathogenicity island

BMC genomics, 2010-04, Vol.11 (1), p.239-239

2010

Volltextzugriff (PDF)

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

Journal of allergy and clinical immunology, 2015-02, Vol.135 (2), p.561-564.e4

2015

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Pseudobudding: ruptured glands do not represent true tumor buds

The Journal of pathology, 2023-09, Vol.261 (1), p.19-27

2023

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Genomic and transcriptomic plasticity in treatment-naive ovarian cancer

Genome research, 2014-02, Vol.24 (2), p.200

2014

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Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

Nature protocols, 2011-12, Vol.6 (12), p.1870-1886

2011

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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Human molecular genetics, 2016-06, Vol.25 (11), p.2158-2167

2016

Volltextzugriff (PDF)

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries

Nucleic acids research, 2010-06, Vol.38 (10), p.e116

2010

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Investigation of Genetic Modifiers of Copper Toxicosis in Labrador Retrievers

Life (Basel, Switzerland), 2020-10, Vol.10 (11), p.266

2020

Volltextzugriff (PDF)

Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene

PloS one, 2015-02, Vol.10 (2), p.e0118147-e0118147

2015

Volltextzugriff (PDF)

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Scientific reports, 2018-11, Vol.8 (1), p.16719-10, Article 16719

2018

Volltextzugriff (PDF)

Tissue-specific mutation accumulation in human adult stem cells during life

Nature (London), 2016-10, Vol.538 (7624), p.260-264

2016

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Simultaneous Detection of Clinically Relevant Mutations and Amplifications for Routine Cancer Pathology

The Journal of molecular diagnostics : JMD, 2015, Vol.17 (1), p.10-18

2015

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Modifier genes in SCN1A‐related epilepsy syndromes

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1103-n/a

2020

Volltextzugriff (PDF)

A Hypomorphic Mutation in Lpin1 Induces Progressively Improving Neuropathy and Lipodystrophy in the Rat

The Journal of biological chemistry, 2011-07, Vol.286 (30), p.26781-26793

2011

Volltextzugriff (PDF)

Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals

BMC genomics, 2008-10, Vol.9 (1), p.460-460, Article 460

2008

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Phylogeny of Y chromosomes from bovine species

Cladistics, 2008-10, Vol.24 (5), p.723-726

2008

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The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

Nature immunology, 2013-08, Vol.14 (8), p.858

2013

Volltextzugriff (PDF)

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Sambamba: fast processing of NGS alignment formats

A systematic genome-wide analysis of zebrafish protein-coding gene function

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

Genome-Wide Pattern of TCF7L2/TCF4 Chromatin Occupancy in Colorectal Cancer Cells

Pyrosequencing-based comparative genome analysis of the nosocomial pathogen Enterococcus faecium and identification of a large transferable pathogenicity island

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

Pseudobudding: ruptured glands do not represent true tumor buds

Genomic and transcriptomic plasticity in treatment-naive ovarian cancer

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries

Investigation of Genetic Modifiers of Copper Toxicosis in Labrador Retrievers

Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Tissue-specific mutation accumulation in human adult stem cells during life

Simultaneous Detection of Clinically Relevant Mutations and Amplifications for Routine Cancer Pathology

Modifier genes in SCN1A‐related epilepsy syndromes

A Hypomorphic Mutation in Lpin1 Induces Progressively Improving Neuropathy and Lipodystrophy in the Rat

Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals

Phylogeny of Y chromosomes from bovine species

The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

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