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The contribution of de novo coding mutations to autism spectrum disorder

Nature (London), 2014-11, Vol.515 (7526), p.216-221

2014

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Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

American journal of human genetics, 2001-03, Vol.68 (3), p.577-589

2001

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

American journal of human genetics, 2015-03, Vol.96 (3), p.462-473

2015

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Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

Nature genetics, 2001-01, Vol.27 (1), p.68-73

2001

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Genomic analysis reveals a potential role for cell cycle perturbation in HCV-mediated apoptosis of cultured hepatocytes

PLoS pathogens, 2009-01, Vol.5 (1), p.e1000269-e1000269

2009

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Proteomic profiling of human liver biopsies: Hepatitis C virus–induced fibrosis and mitochondrial dysfunction

Hepatology (Baltimore, Md.), 2007-09, Vol.46 (3), p.649-657

2007

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Polymorphisms in the Sclerosteosis/van Buchem Disease Gene ( SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites

American journal of human genetics, 2004-12, Vol.75 (6), p.1032-1045

2004

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Impaired Cholesterol Biosynthesis in a Neuronal Cell Line Persistently Infected with Measles Virus

Journal of Virology, 2009-06, Vol.83 (11), p.5495-5504

2009

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MAID : an effect size based model for microarray data integration across laboratories and platforms

BMC bioinformatics, 2008-07, Vol.9 (1), p.305-305, Article 305

2008

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Distinct cellular responses differentiating alcohol- and hepatitis C virus-induced liver cirrhosis

Virology journal, 2006-11, Vol.3 (1), p.98-98, Article 98

2006

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High-density rhesus macaque oligonucleotide microarray design using early-stage rhesus genome sequence information and human genome annotations

BMC genomics, 2007-01, Vol.8 (1), p.28-28, Article 28

2007

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Systems biology and the host response to viral infection

Nature biotechnology, 2007-12, Vol.25 (12), p.1383-1389

2007

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Functional gene analysis of individual response to challenge of SIVmac239 in M. mulatta PBMC culture

Virology (New York, N.Y.), 2006-04, Vol.348 (1), p.242-252

2006

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Mutation of ATF6 causes autosomal recessive achromatopsia

Human genetics, 2015-09, Vol.134 (9), p.941-950

2015

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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

American journal of human genetics, 2015-05, Vol.96 (5), p.841-849

2015

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Challenges and solutions for gene identification in the presence of familial locus heterogeneity

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1207-1215

2015

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Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1223-1227

2016

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A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population

American journal of medical genetics, 2002-06, Vol.110 (2), p.144-152

2002

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Sequencing and expression analysis of the serine protease gene cluster located in chromosome 19q13 region

Gene, 2000-10, Vol.257 (1), p.119-130

2000

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Genomic Analysis Reveals a Potential Role for Cell Cycle Perturbation in HCV-Mediated Apoptosis of Cultured Hepatocytes: e1000269

PLoS pathogens, 2009-01, Vol.5 (1)

2009

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A Novel Mutation in CD83 Results in the Development of a Unique Population of CD4+ T Cells

The Journal of immunology (1950), 2004-09, Vol.173 (5), p.2995-3001

2004

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Temporal expression of the human alcohol dehydrogenase gene family during liver development correlates with differential promoter activation by hepatocyte nuclear factor 1, CCAAT/enhancer-binding protein alpha, liver activator protein, and D-element-binding protein

Molecular and Cellular Biology, 1992-07, Vol.12 (7), p.3023-3031

1992

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The role of CCAAT/enhancer-binding protein in the differential transcriptional regulation of a family of human liver alcohol dehydrogenase genes

The Journal of biological chemistry, 1991-06, Vol.266 (18), p.11594-11603

1991

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A High-Throughput Plasmid DNA Preparation Method

Analytical biochemistry, 1994-11, Vol.223 (1), p.35-38

1994

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The contribution of de novo coding mutations to autism spectrum disorder

Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

Genomic analysis reveals a potential role for cell cycle perturbation in HCV-mediated apoptosis of cultured hepatocytes

Proteomic profiling of human liver biopsies: Hepatitis C virus–induced fibrosis and mitochondrial dysfunction

Polymorphisms in the Sclerosteosis/van Buchem Disease Gene ( SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites

Impaired Cholesterol Biosynthesis in a Neuronal Cell Line Persistently Infected with Measles Virus

MAID : an effect size based model for microarray data integration across laboratories and platforms

Distinct cellular responses differentiating alcohol- and hepatitis C virus-induced liver cirrhosis

High-density rhesus macaque oligonucleotide microarray design using early-stage rhesus genome sequence information and human genome annotations

Systems biology and the host response to viral infection

Functional gene analysis of individual response to challenge of SIVmac239 in M. mulatta PBMC culture

Mutation of ATF6 causes autosomal recessive achromatopsia

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Rare A2ML1 variants confer susceptibility to otitis media

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population

Sequencing and expression analysis of the serine protease gene cluster located in chromosome 19q13 region

Genomic Analysis Reveals a Potential Role for Cell Cycle Perturbation in HCV-Mediated Apoptosis of Cultured Hepatocytes: e1000269

A Novel Mutation in CD83 Results in the Development of a Unique Population of CD4+ T Cells

Temporal expression of the human alcohol dehydrogenase gene family during liver development correlates with differential promoter activation by hepatocyte nuclear factor 1, CCAAT/enhancer-binding protein alpha, liver activator protein, and D-element-binding protein

The role of CCAAT/enhancer-binding protein in the differential transcriptional regulation of a family of human liver alcohol dehydrogenase genes

A High-Throughput Plasmid DNA Preparation Method

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