Lista de obras - Carl A Anderson - Dominio Público Uruguay

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis

article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

artículo científico publicado en 2013

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

artículo científico publicado en 2015

Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease

scientific article published on 01 February 2019

Class II HLA interactions modulate genetic risk for multiple sclerosis

artículo científico publicado en 2015

Combined Influence of B-Cell Receptor Rearrangement and Somatic Hypermutation on B-Cell Class-Switch Fate in Health and in Chronic Lymphocytic Leukemia

article

Common and rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort

artículo científico publicado en 2020

Common variants at five new loci associated with early-onset inflammatory bowel disease

artículo científico publicado en 2009

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

artículo científico publicado en 2016

Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease

artículo científico publicado en 2018

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Data quality control in genetic case-control association studies.

artículo científico publicado en 2010

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

artículo científico publicado en 2012

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

artículo científico publicado en 2013

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

artículo científico publicado en 2017

Fine-mapping inflammatory bowel disease loci to single-variant resolution

artículo científico publicado en 2017

Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune-mediated disease

artículo científico publicado en 2015

Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

artículo científico publicado en 2017

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

artículo científico publicado en 2008

Genetic studies of Crohn's disease: past, present and future

artículo científico publicado en 2014

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

artículo científico publicado en 2008

Genome-wide association meta-analysis identifies new endometriosis risk loci

artículo científico publicado en 2012

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

artículo científico publicado en 2011

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis

artículo científico publicado en 2011

Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease.

artículo científico publicado en 2017

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

artículo científico publicado en 2017

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

artículo científico publicado en 2016

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

artículo científico publicado en 2009

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

artículo científico publicado en 2010

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

artículo científico publicado en 2016

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

artículo científico publicado en 2014

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

artículo científico publicado en 2018

Host genetic variants and gene expression patterns associated with Epstein-Barr virus copy number in lymphoblastoid cell lines.

artículo científico publicado en 2014

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

artículo científico publicado en 2012

Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway

artículo científico publicado en 2013

Incomplete genetic reconstitution of B cell pools contributes to prolonged immunosuppression after measles

artículo científico publicado en 2019

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

artículo científico publicado en 2018

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

artículo científico publicado en 2008

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

artículo científico publicado en 2010

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

artículo científico publicado en 2014

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

artículo científico publicado en 2007

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

artículo científico publicado en 2020

Synthetic associations are unlikely to account for many common disease genome-wide association signals

artículo científico publicado en 2011

optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants

artículo científico publicado en 2012

Lista de obras de Carl A Anderson

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

A reference panel of 64,976 haplotypes for genotype imputation

Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease

Class II HLA interactions modulate genetic risk for multiple sclerosis

Combined Influence of B-Cell Receptor Rearrangement and Somatic Hypermutation on B-Cell Class-Switch Fate in Health and in Chronic Lymphocytic Leukemia

Common and rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort

Common variants at five new loci associated with early-onset inflammatory bowel disease

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Data quality control in genetic case-control association studies.

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

Fine-mapping inflammatory bowel disease loci to single-variant resolution

Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune-mediated disease

Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Genetic studies of Crohn's disease: past, present and future

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

Genome-wide association meta-analysis identifies new endometriosis risk loci

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis

Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease.

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Host genetic variants and gene expression patterns associated with Epstein-Barr virus copy number in lymphoblastoid cell lines.

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway

Incomplete genetic reconstitution of B cell pools contributes to prolonged immunosuppression after measles

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Synthetic associations are unlikely to account for many common disease genome-wide association signals

optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants