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An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing

Science (American Association for the Advancement of Science), 2001-10, Vol.294 (5540), p.169-173

2001

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Guidelines for investigating causality of sequence variants in human disease

Nature (London), 2014-04, Vol.508 (7497), p.469-476

2014

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Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice

Arteriosclerosis, thrombosis, and vascular biology, 2003-04, Vol.23 (4), p.529

2003

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Candidate genes for congenital diaphragmatic hernia from animal models : sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

European journal of human genetics : EJHG, 2007-09, Vol.15 (9), p.950-958

2007

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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

Nature genetics, 1998-11, Vol.20 (3), p.251-258

1998

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Functional anatomy of distant-acting mammalian enhancers

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2013-06, Vol.368 (1620), p.20120359

2013

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Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Human molecular genetics, 2009-03, Vol.18 (6), p.1140-1147

2009

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Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

Clinical genetics, 2009-05, Vol.75 (5), p.429-439

2009

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Genomic strategies to identify mammalian regulatory sequences

Nature reviews. Genetics, 2001-02, Vol.2 (2), p.100-109

2001

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Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

Human molecular genetics, 2002-11, Vol.11 (24), p.3031-3038

2002

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Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants

Arteriosclerosis, thrombosis, and vascular biology, 2005-12, Vol.25 (12), p.2573

2005

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VISTA Enhancer Browser--a database of tissue-specific human enhancers

Nucleic acids research, 2007-01, Vol.35 (Database issue), p.D88

2007

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Metagenomic Discovery of Biomass-Degrading Genes and Genomes from Cow Rumen

Science (American Association for the Advancement of Science), 2011-01, Vol.331 (6016), p.463-467

2011

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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

Science (American Association for the Advancement of Science), 1996-03, Vol.271 (5256), p.1731-1734

1996

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Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers

Genome research, 2010-05, Vol.20 (5), p.565

2010

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Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes

Human molecular genetics, 2001-09, Vol.10 (18), p.1867-1871

2001

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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Human molecular genetics, 2015-06, Vol.24 (11), p.3143-3154

2015

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Human-mouse comparative genomics: successes and failures to reveal functional regions of the human genome

Cold Spring Harbor Symposia on Quantitative Biology, 2003, Vol.68, p.303

2003

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Human-Specific Gain of Function in a Developmental Enhancer

Science (American Association for the Advancement of Science), 2008-09, Vol.321 (5894), p.1346-1350

2008

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Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Nature genetics, 1997-04, Vol.15 (4), p.393-396

1997

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Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia

Arteriosclerosis, thrombosis, and vascular biology, 2004-01, Vol.24 (1), p.167

2004

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Brg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma

Development (Cambridge), 2015-12, Vol.142 (23), p.4092-4106

2015

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Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers

Proceedings of the National Academy of Sciences - PNAS, 2008-10, Vol.105 (42), p.16224-16229

2008

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An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

Human molecular genetics, 2014-05, Vol.23 (10), p.2711-2720

2014

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Apolipoprotein AIV Gene Variant S347 Is Associated With Increased Risk of Coronary Heart Disease and Lower Plasma Apolipoprotein AIV Levels

Circulation research, 2003-05, Vol.92 (9), p.969-975

2003

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An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing

Guidelines for investigating causality of sequence variants in human disease

Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice

Candidate genes for congenital diaphragmatic hernia from animal models : sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

Functional anatomy of distant-acting mammalian enhancers

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

Genomic strategies to identify mammalian regulatory sequences

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants

VISTA Enhancer Browser--a database of tissue-specific human enhancers

Metagenomic Discovery of Biomass-Degrading Genes and Genomes from Cow Rumen

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Human-mouse comparative genomics: successes and failures to reveal functional regions of the human genome

Human-Specific Gain of Function in a Developmental Enhancer

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia

Brg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma

Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

Apolipoprotein AIV Gene Variant S347 Is Associated With Increased Risk of Coronary Heart Disease and Lower Plasma Apolipoprotein AIV Levels

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