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An informatics approach to analyzing the incidentalome

Genetics in medicine, 2013-01, Vol.15 (1), p.36-44

2013

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Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

BMC bioinformatics, 2021-07, Vol.22 (1), p.1-374, Article 374

2021

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A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

Genetics in medicine, 2016-05, Vol.18 (5), p.467-475

2016

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Variant calling in low-coverage whole genome sequencing of a Native American population sample

BMC genomics, 2014-01, Vol.15 (1), p.85-85, Article 85

2014

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ReQON: a Bioconductor package for recalibrating quality scores from next-generation sequencing data

BMC bioinformatics, 2012-09, Vol.13 (1), p.221-221, Article 221

2012

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Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians

BMC medical genetics, 2008-04, Vol.9 (1), p.35-35, Article 35

2008

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Protective variant associated with alcohol dependence in a Mexican American cohort

BMC medical genetics, 2014-12, Vol.15 (1), p.136-136, Article 136

2014

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EEG alpha phenotypes: linkage analyses and relation to alcohol dependence in an American Indian community study

BMC medical genetics, 2010-03, Vol.11 (1), p.43-43, Article 43

2010

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The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population

Human genomics, 2008-09, Vol.3 (1), p.24-35

2008

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Genomic screen for loci associated with tobacco usage in Mission Indians

BMC medical genetics, 2006-02, Vol.7 (1), p.9-9, Article 9

2006

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Cobra ( Naja spp. ) nicotinic acetylcholine receptor exhibits resistance to Erabu sea snake ( Laticauda semifasciata) short-chain alpha-neurotoxin

Journal of molecular evolution, 2004-05, Vol.58 (5), p.516-526

2004

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Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study

Human genetics, 2007-05, Vol.121 (3-4), p.421-431

2007

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Quantitative effects of common genetic variations in the 3'UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study

Human genetics, 2007-05, Vol.121 (3-4), p.421-431

2007

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Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Genetics in medicine, 2017-11, Vol.19 (11), p.1207-1216

2017

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An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Genetics in medicine, 2020-05, Vol.22 (5), p.954-961

2020

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Cobra ( Naja spp. ) Nicotinic Acetylcholine Receptor Exhibits Resistance to Erabu Sea Snake ( Laticauda semifasciata ) Short-Chain a-Neurotoxin

Journal of molecular evolution, 2004-05, Vol.58 (5), p.516-526

2004

Volltextzugriff (PDF)

Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study

Human genetics, 2007-11, Vol.122 (3-4), p.421-422

2007

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An approach to integrating exome sequencing for fetal structuralanomalies into clinical practice

Genetics in medicine, 2020-05, Vol.22 (5), p.954-961

2020

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Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Genetics in medicine, 2020-08, Vol.22 (8), p.1426-1426

2020

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GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

Journal of neurology, 2014-03, Vol.261 (3), p.622-624

2014

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GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

Journal of neurology, 2014, Vol.261 (3), p.622-624

2014

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An informatics approach to analyzing the incidentalome

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

Variant calling in low-coverage whole genome sequencing of a Native American population sample

ReQON: a Bioconductor package for recalibrating quality scores from next-generation sequencing data

Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians

Protective variant associated with alcohol dependence in a Mexican American cohort

EEG alpha phenotypes: linkage analyses and relation to alcohol dependence in an American Indian community study

The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population

Genomic screen for loci associated with tobacco usage in Mission Indians

Cobra ( Naja spp. ) nicotinic acetylcholine receptor exhibits resistance to Erabu sea snake ( Laticauda semifasciata) short-chain alpha-neurotoxin

Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study

Quantitative effects of common genetic variations in the 3'UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Cobra ( Naja spp. ) Nicotinic Acetylcholine Receptor Exhibits Resistance to Erabu Sea Snake ( Laticauda semifasciata ) Short-Chain a-Neurotoxin

Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study

An approach to integrating exome sequencing for fetal structuralanomalies into clinical practice

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

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