C. Montgomery

发表

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

Nicholette D. Palmer, A. Reiner, G. Abecasis, 2020, Nature Communications.

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

Nicholette D. Palmer, A. Reiner, G. Abecasis, 2019, bioRxiv.

Detrimental effects of duplicate reads and low complexity regions on RNA- and ChIP-seq data

Cory B. Giles, Edmund R. Glass, W. Freeman, 2015, BMC Bioinformatics.

Practical Barriers and Ethical Challenges in Genetic Data Sharing

Claire L. Simpson, K. Goddard, S. Shete, 2014, International journal of environmental research and public health.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Brian E. Cade, Zachary A. Szpiech, Shannon Kelly, 2019, Nature.

Genome-Wide Association Study of African and European Americans Implicates Multiple Shared and Ethnic Specific Loci in Sarcoidosis Susceptibility

Jessica J. Hale, M. Iannuzzi, A. Levin, 2012, PloS one.

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale

Ivana V. Yang, Andrew D. Johnson, Ryan D. Hernandez, 2020, Nature Genetics.

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Jianwen Cai, Tao Wang, Charles Kooperberg, 2019, PLoS genetics.

Scott T. Weiss, Hemant K. Tiwari, Donald W. Bowden, 2019, bioRxiv.

Systemic immune response to vimentin and granuloma formation in a model of pulmonary sarcoidosis

W. Drake, C. Montgomery, L. Garman, 2022, Journal of translational autoimmunity.

Extended methods for gene–environment‐wide interaction scans in studies of admixed individuals with varying degrees of relationships

A. Levin, B. Rybicki, C. Montgomery, 2019, Genetic epidemiology.

A Genome-Wide Association Study Establishes Muliple Susceptibility Loci for Sjogren's Syndrome

P. Gaffney, R. Jonsson, Hongzhe Li, 2012 .

Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed

Nicholette D. Palmer, M. Gladwin, M. Fornage, 2019, bioRxiv.

Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren’s syndrome

P. Gaffney, R. Jonsson, B. Segal, 2013, Nature Genetics.

Performance of HLA allele prediction methods in African Americans for class II genes HLA-DRB1, −DQB1, and –DPB1

M. Iannuzzi, A. Levin, P. McKeigue, 2014, BMC Genetics.

Genetic, Immunologic, and Environmental Basis of Sarcoidosis.

W. Drake, B. Rybicki, C. Montgomery, 2017, Annals of the American Thoracic Society.

Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis

P. Gaffney, J. Guthridge, C. Montgomery, 2017, PloS one.

Disease activity in lupus correlates with expression of the transcription factor ARID3a (BA2P.119)

C. Webb, Kenneth J. Smith, C. Montgomery, 2014, The Journal of Immunology.

Disease Activity in Systemic Lupus Erythematosus Correlates With Expression of the Transcription Factor AT‐Rich–Interactive Domain 3A

C. Webb, C. Montgomery, J. Merrill, 2014, Arthritis & rheumatology.

Minor salivary gland fibrosis in Sjögren's syndrome is elevated, associated with focus score and not solely a consequence of aging.

B. Segal, C. Montgomery, K. Sivils, 2018, Clinical and experimental rheumatology.

dcVar: a method for identifying common variants that modulate differential correlation structures in gene expression data

C. Lareau, B. C. White, B. McKinney, 2015, Front. Genet..

Admixture Fine-Mapping in African Americans Implicates XAF1 as a Possible Sarcoidosis Risk Gene

M. Iannuzzi, A. Levin, P. McKeigue, 2014, PloS one.

Single Cell Transcriptomics Implicate Novel Monocyte and T Cell Immune Dysregulation in Sarcoidosis

A. Levin, C. Lareau, R. Pelikan, 2020, Frontiers in Immunology.

Rare genetic variants explain missing heritability in smoking

Ivana V. Yang, Dajiang J. Liu, Nicholette D. Palmer, 2022, Nature Human Behaviour.

Genetics of neurosarcoidosis

C. Montgomery, A. Rasmussen, N. Pezant, 2022, Journal of Neuroimmunology.

Association of HLA-DRB1 with Sarcoidosis Susceptibility and Progression in African Americans.

M. Iannuzzi, A. Levin, W. Drake, 2014, American journal of respiratory cell and molecular biology.

Novel HLA associations with outcomes of Mycobacterium tuberculosis exposure and sarcoidosis in individuals of African ancestry using nearest‐neighbor feature selection

M. Iannuzzi, A. Levin, C. Stein, 2022, Genetic epidemiology.

Brief Report: Patients With Primary Sjögren's Syndrome Who Are Positive for Autoantibodies to Tripartite Motif–Containing Protein 38 Show Greater Disease Severity

M. Weisman, J. Anaya, J. Guthridge, 2016, Arthritis & rheumatology.

Fatty infiltration of the minor salivary glands is a selective feature of aging but not Sjögren’s syndrome

B. Segal, C. Montgomery, K. Sivils, 2017, Autoimmunity.

Sex differences in the genetics of sarcoidosis across European and African ancestry populations

M. Iannuzzi, D. Ellinghaus, L. Padyukov, 2021, Frontiers in Medicine.

Downregulation of E Protein Activity Augments an ILC2 Differentiation Program in the Thymus

K. Fung, C. Montgomery, J. Urban, 2016, The Journal of Immunology.

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

Andrew D. Johnson, May E. Montasser, Nicholette D. Palmer, 2022, Nature Genetics.

Dysregulated long non-coding RNA in Sjögren’s disease impacts both interferon and adaptive immune responses

P. Gaffney, J. Wren, J. Guthridge, 2022, RMD Open.

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

Brian E. Cade, Thomas W. Blackwell, Yan Gao, 2020, bioRxiv.

Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals

Andrew D. Johnson, Benjamin D. Heavner, Michael E. Hall, 2022, Nature Communications.

Genome sequencing unveils a regulatory landscape of platelet reactivity

Benjamin D. Heavner, May E. Montasser, Nicholette D. Palmer, 2019, Nature Communications.

American Indians Have a Higher Risk of Sjögren's Syndrome and More Disease Activity Than European Americans and African Americans

M. Weisman, D. Wallace, C. Montgomery, 2020, Arthritis care & research.

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

P. Gregersen, P. Gaffney, M. Petri, 2011, Nature Genetics.

Structural variation across 138,134 samples in the TOPMed consortium

Mark J. P. Chaisson, Nicholette D. Palmer, M. Fornage, 2023, bioRxiv.

The genomics of autoimmune disease in the era of genome-wide association studies and beyond.

Indra Adrianto, P. Gaffney, K. Moser, 2012, Autoimmunity reviews.

Population sequencing data reveal a compendium of mutational processes in human germline

Ryan D. Hernandez, Nicholette D. Palmer, S. Redline, 2020, bioRxiv.

PD-1 up-regulation on CD4+ T cells promotes pulmonary fibrosis through STAT3-mediated IL-17A and TGF-β1 production

I. Noth, G. Bernard, G. Ayers, 2018, Science Translational Medicine.

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Andrew D. Johnson, Benjamin D. Heavner, Ryan D. Hernandez, 2022, Nature Genetics.

Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus.

P. Gaffney, M. Petri, J. Reveille, 2012, Arthritis and rheumatism.

A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus

P. Gaffney, M. Petri, J. Reveille, 2012, Genes and Immunity.

Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons

P. Gaffney, R. Jonsson, B. Segal, 2017, PLoS genetics.

Comparison of the American-European Consensus Group Sjögren's syndrome classification criteria to newly proposed American College of Rheumatology criteria in a large, carefully characterised sicca cohort

R. Jonsson, B. Segal, J. Harley, 2013, Annals of the rheumatic diseases.

High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

M. Nöthen, M. Iannuzzi, A. Franke, 2016, American journal of respiratory and critical care medicine.

Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks

Martin J. Aryee, P. Gaffney, C. Lareau, 2018, Nature Communications.

Trans-Ethnic Mapping of BANK1 Identifies Two Independent SLE-Risk Linkage Groups Enriched for Co-Transcriptional Splicing Marks

C. Langefeld, M. Marion, M. Weisman, 2018, International journal of molecular sciences.

Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis

P. Gaffney, M. Petri, J. Reveille, 2011, Genes and Immunity.

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

Ivana V. Yang, Benjamin D. Heavner, Nicholette D. Palmer, 2022, Cell genomics.

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Ivana V. Yang, Sebastian M. Armasu, Andrew D. Johnson, 2020, Nature.

Recent advances in sarcoidosis genomics: epigenetics, gene expression, and gene by environment (G × E) interaction studies.

C. Montgomery, L. Garman, Natalia V. Rivera, 2020, Current opinion in pulmonary medicine.

X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome

P. Gaffney, R. Jonsson, K. Siminovitch, 2015, Arthritis & rheumatology.

Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans

M. Iannuzzi, A. Levin, P. McKeigue, 2012, Genes and Immunity.

Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk.

C. Gieger, M. Nöthen, K. Strauch, 2015, American journal of respiratory and critical care medicine.

Single-cell analysis of glandular T cell receptors in Sjögren's syndrome.

D. Chudakov, R. Pelikan, C. Montgomery, 2016, JCI insight.

Encore: Genetic Association Interaction Network Centrality Pipeline and Application to SLE Exome Data

Bill C White, Caleb A Lareau, B A McKinney, 2013, Genetic epidemiology.

Development and validation of a simple lupus severity index using ACR criteria for classification of SLE

G. Bello, C. Montgomery, J. Kelly, 2016, Lupus Science and Medicine.

Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.

P. Gaffney, M. Petri, J. Reveille, 2012, American journal of human genetics.

Antibodies to periodontogenic bacteria are associated with higher disease activity in lupus patients.

J. Guthridge, C. Montgomery, J. Merrill, 2019, Clinical and experimental rheumatology.

Chapter 2 Genetics , Genomics , and Proteomics of Sjögren ’ s Syndrome

K. Moser, C. Montgomery, C. Lessard, 2017 .

Genetics, Genomics, and Proteomics of Sjögren’s Syndrome

K. Moser, C. Montgomery, H. Scofield, 2011 .

X chromosome dose and sex bias in autoimmune diseases: increased 47,XXX in systemic lupus erythematosus and Sjögren’s syndrome (BA4P.211)

P. Gaffney, R. Jonsson, K. Siminovitch, 2014, The Journal of Immunology.

Effect of Tobacco Smoking on The Clinical, Histopathological, and Serological Manifestations of Sjögren’s Syndrome

B. Segal, M. Weisman, D. Wallace, 2017, PloS one.

Inactivating Mutation in the Prostaglandin Transporter Gene, SLCO2A1, Associated with Familial Digital Clubbing, Colon Neoplasia, and NSAID Resistance

J. Willis, S. Markowitz, A. Dannenberg, 2014, Cancer Prevention Research.

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.

P. Gaffney, M. Weirauch, R. Jonsson, 2014, Human molecular genetics.

Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.

P. Gregersen, P. Gaffney, M. Petri, 2011, American journal of human genetics.

Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients

M. Iannuzzi, A. Levin, C. Lareau, 2015, Annals of clinical and translational neurology.

Genetics of Sjögren's syndrome in the genome-wide association era.

K. Moser, C. Montgomery, J. Kelly, 2012, Journal of autoimmunity.

Low Gut Microbial Diversity Augments Estrogen-driven Pulmonary Fibrosis in Female-Predominant Interstitial Lung Disease

L. Crofford, W. Drake, L. Lancaster, 2023, bioRxiv.

Clonal haematopoiesis and risk of chronic liver disease

Andrew D. Johnson, Benjamin D. Heavner, May E. Montasser, 2023, Nature.

ARID3a gene profiles are strongly associated with human interferon alpha production.

J. Wren, C. Webb, E. Chakravarty, 2019, Journal of autoimmunity.

Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans

M. Iannuzzi, A. Levin, B. Rybicki, 2020, Ocular immunology and inflammation.

Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome.

M. Iannuzzi, A. Levin, G. Bello, 2015, American journal of respiratory and critical care medicine.

Polygenic risk assessment reveals pleiotropy between sarcoidosis and inflammatory disorders in the context of genetic ancestry

P. Gaffney, M. Iannuzzi, B. Rybicki, 2017, Genes & Immunity.

Polygenic Risk Assessment Reveals Pleiotropy between Sarcoidosis and Inflammatory Disorders in the Context of Genetic Ancestry

P. Gaffney, M. Iannuzzi, A. Levin, 2016, Genes and Immunity.

A High-Density Genome-Wide Association Study by the Sjogren's Genetics Network Identifies Five Novel Susceptibility Loci for Primary Sjogren's Syndrome and Confirms Association with MHC, IRF5, and BLK

R. Jonsson, B. Segal, G. Illei, 2011 .

Anti-vimentin antibodies are associated with higher severity of Sjögren's disease.

C. Montgomery, A. Rasmussen, C. Lessard, 2023, Clinical immunology.

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma

Andrew D. Johnson, Benjamin D. Heavner, May E. Montasser, 2023, EBioMedicine.

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Andrew D. Johnson, May E. Montasser, Nicholette D. Palmer, 2020, Nature Genetics.

Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium

Andrew D. Johnson, Benjamin D. Heavner, May E. Montasser, 2020, Genome Medicine.

Validation of human telomere length trans-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as novel human telomere length regulation genes

Benjamin J. Strober, Nicholette D. Palmer, M. Gladwin, 2023, bioRxiv.

Population sequencing data reveal a compendium of mutational processes in human germline

Nicholette D. Palmer, S. Redline, E. Boerwinkle, 2021, Science.

Estimating allele frequencies.

C. Montgomery, I. Adrianto, 2012, Methods in molecular biology.

Hypertension: Care Management Program and Medication Adherence

C. Montgomery, 2022 .

Nearest-Neighbor Projected Distance Regression for Epistasis Detection in GWAS With Population Structure Correction

P. Gaffney, B. McKinney, C. Montgomery, 2020, Frontiers in Genetics.

Low Gut Microbial Diversity Augments Estrogen-Driven Pulmonary Fibrosis in Female-Predominant Interstitial Lung Disease

L. Crofford, W. Drake, L. Lancaster, 2023, Cells.

Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.

P. Gaffney, M. Petri, J. Reveille, 2012, American journal of human genetics.

Variant-specific inflation factors for assessing population stratification at the phenotypic variance level

Andrew D. Johnson, Benjamin D. Heavner, May E. Montasser, 2021, Nature Communications.

Multiple Correspondence Analysis and HLA-Associations of Organ Involvement in a Large Cohort of African-American and European-American Patients with Sarcoidosis

M. Iannuzzi, B. Rybicki, C. Montgomery, 2023, Lung.

A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies

Benjamin D. Heavner, May E. Montasser, Nicholette D. Palmer, 2021, bioRxiv.

Genetic, Immunologic, and Environmental Basis of Sarcoidosis.

W. Drake, B. Rybicki, C. Montgomery, 2017, Annals of the American Thoracic Society.