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Low Incidence of DNA Sequence Variation in Human Induced Pluripotent Stem Cells Generated by Nonintegrating Plasmid Expression

Cell stem cell, 2012-03, Vol.10 (3), p.337-344

2012

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

PLoS genetics, 2011-10, Vol.7 (10), p.e1002325-e1002325

2011

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Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans

PloS one, 2020-04, Vol.15 (4), p.e0232048-e0232048

2020

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas

PloS one, 2022-01, Vol.17 (1), p.e0251286-e0251286

2022

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Variant Calling From Next Generation Sequence Data

Methods in molecular biology (Clifton, N.J.), 2016, Vol.1418, p.209

Hansen, Nancy F

2016

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Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing

Cancer, 2017-09, Vol.123 (17), p.3261-3268

2017

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Selection for long and short sleep duration in Drosophila melanogaster reveals the complex genetic network underlying natural variation in sleep

PLoS genetics, 2017-12, Vol.13 (12), p.e1007098

2017

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Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

Nature genetics, 2012-12, Vol.44 (12), p.1310-1315

2012

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iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

Proceedings of the National Academy of Sciences - PNAS, 2017-02, Vol.114 (8), p.1964-1969

2017

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Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

Genome research, 2010-10, Vol.20 (10), p.1420

2010

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Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas

Neuro-oncology (Charlottesville, Va.), 2019-08, Vol.21 (8), p.981-992

2019

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An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval

American journal of human genetics, 2014-06, Vol.94 (6), p.854-869

2014

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The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas

Cancer, 2018-01, Vol.124 (1), p.65-73

2018

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The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

Genome Research, 2009-09, Vol.19 (9), p.1665-1674

2009

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The Routledge History of Disability

1, 2018

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Shimmer: detection of genetic alterations in tumors using next-generation sequence data

Bioinformatics, 2013-06, Vol.29 (12), p.1498-1503

2013

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Evaluation of variant detection software for pooled next-generation sequence data

BMC bioinformatics, 2015-07, Vol.16 (1), p.235-235, Article 235

2015

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Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans

PLoS genetics, 2014-03, Vol.10 (3), p.e1004190

2014

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Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas

Scientific reports, 2020-07, Vol.10 (1), p.12563-12563, Article 12563

2020

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Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

American journal of human genetics, 2010-05, Vol.86 (5), p.743-748

2010

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The transcription factors Ets1 and Sox10 interact during murine melanocyte development

Developmental biology, 2015-11, Vol.407 (2), p.300-312

2015

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Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

American journal of human genetics, 2010-10, Vol.87 (4), p.560-566

2010

Volltextzugriff (PDF)

The Sleep Inbred Panel, a Collection of Inbred Drosophila melanogaster with Extreme Long and Short Sleep Duration

G3 : genes - genomes - genetics, 2018-09, Vol.8 (9), p.2865-2873

2018

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After Critical Care: Challenges in the Transition to Inpatient Rehabilitation

Rehabilitation psychology, 2016-05, Vol.61 (2), p.186-200

2016

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Low Incidence of DNA Sequence Variation in Human Induced Pluripotent Stem Cells Generated by Nonintegrating Plasmid Expression

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas

Variant Calling From Next Generation Sequence Data

Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing

Selection for long and short sleep duration in Drosophila melanogaster reveals the complex genetic network underlying natural variation in sleep

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas

An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval

The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

The Routledge History of Disability

Shimmer: detection of genetic alterations in tumors using next-generation sequence data

Evaluation of variant detection software for pooled next-generation sequence data

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans

Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

The transcription factors Ets1 and Sox10 interact during murine melanocyte development

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

The Sleep Inbred Panel, a Collection of Inbred Drosophila melanogaster with Extreme Long and Short Sleep Duration

After Critical Care: Challenges in the Transition to Inpatient Rehabilitation

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