Author details

Full Name

Patrick M Gaffney

Affiliation

ORCID

Career Start Year

1990

Papers

185

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37645944	Massively Parallel Reporter Assay Confirms Regulatory Potential of hQTLs and Reveals Important Variants in Lupus and Other Autoimmune Diseases.		2023
38036786	Taming the HLA for single-cell genomics.		2023
38030164	Potential Roles of Activin in Head and Neck Squamous Cell Carcinoma Progression and Mortality.		2023
37745336	Comparison of the three-dimensional chromatin structures of adolescent and adult peripheral blood B cells: implications for the study of pediatric autoimmune diseases.	bioRxiv	2023
34279042	Variants on the UBE2L3/YDJC Autoimmune Disease Risk Haplotype Increase UBE2L3 Expression by Modulating CCCTC-Binding Factor and YY1 Binding.	Arthritis and Rheumatology	2022
35708944	A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus-like Disease in Mice.	ACR Open Rheumatology	2022
35998578	Communicating Precision Medicine Research: Multidisciplinary Teams and Diverse Communities.	Public Health Genomics	2022
36199584	Systemic lupus erythematosus variants modulate the function of an enhancer upstream of .	Frontiers in Genetics	2022
35720397	Relationship Between a Vitamin D Genetic Risk Score and Autoantibodies Among First-Degree Relatives of Probands With Rheumatoid Arthritis and Systemic Lupus Erythematosus.	Front Immunol	2022
36456101	Dysregulated long non-coding RNA in SjÃ¶gren's disease impacts both interferon and adaptive immune responses.	RMD Open	2022
34663594	Deficiencies in the DNA Binding Protein ARID3a Alter Chromatin Structures Important for Early Human Erythropoiesis.	ImmunoHorizons	2021
33607115	Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits.		2021
33597588	CD4+â¿¿T cells from children with active juvenile idiopathic arthritis show altered chromatin features associated with transcriptional abnormalities.	Sci Rep	2021
33220177	Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.	Neuron	2021
33213505	Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus.	Genome Biol	2020
31804013	Role of Systemic Lupus Erythematosus Risk Variants With Opposing Functional Effects as a Driver of Hypomorphic Expression of TNIP1 and Other Genes Within a Three-Dimensional Chromatin Network.	Arthritis and Rheumatology	2020
32366252	Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31.	BMC Biol	2020
32788574	Correction: Identification and replication of RNA-Seq gene network modules associated with depression severity.	Transl Psychiatry	2020
32774345	Nearest-Neighbor Projected Distance Regression for Epistasis Detection in GWAS With Population Structure Correction.	Frontiers in Genetics	2020
31217170	Association of Epstein-Barr virus serological reactivation with transitioning to systemic lupus erythematosus in at-risk individuals.	Ann Rheum Dis	2019
29904099	Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis.	Genes Immun	2019
30085094	Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.	Hum Mol Genet	2018
30268153	From association to mechanism in complex disease genetics: the role of the 3D genome.		2018
29912393	A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.	Hum Mol Genet	2018
30046115	Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks.	Nat Commun	2018
30046013	Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.	JCI Insight	2018
29861105	Î²IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.	American Journal of Human Genetics	2018
30185774	Identification and replication of RNA-Seq gene network modules associated with depression severity.	Transl Psychiatry	2018
28275240	Polygenic risk assessment reveals pleiotropy between sarcoidosis and inflammatory disorders in the context of genetic ancestry.	Genes and Immunity	2017
28640813	Identification of a SjÃ¶gren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.	PLoS Genet	2017
28805828	Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.	Nat Genet	2017
28935578	ABIN1 Determines Severity of Glomerulonephritis via Activation of Intrinsic Glomerular Inflammation.	Am J Pathol	2017
28714469	Transancestral mapping and genetic load in systemic lupus erythematosus.	Nat Commun	2017
29045069	Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block.	Arthritis Rheumatol	2017
29043109	Multigene phylogeny of the scyphozoan jellyfish family Pelagiidae reveals that the common U.S. Atlantic sea nettle comprises two distinct species ( and ).	PeerJ	2017
29214033	Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma.	Lupus Sci Med	2017
27283331	Combined role of vitamin D status and CYP24A1 in the transition to systemic lupus erythematosus.	Ann Rheum Dis	2017
26999671	Functional activation of PPARÎ³ in human upper aerodigestive cancer cell lines.	Molecular Carcinogenesis	2017
27896820	PPARÎ³ targeted oral cancer treatment and additional utility of genomics analytic techniques.	Laryngoscope	2017
28234905	Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis.	PLoS One	2017
28135245	A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.	Nature Genetics	2017
25180293	Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA.	Ann Rheum Dis	2016
33473490	The complete mitochondrial genome sequence of white perch (Perciformes, Moronidae).	Mitochondrial DNA Part B: Resources	2016
26880555	Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity.	Elife	2016
26783109	Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.	Ann Rheum Dis	2016
27399966	Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.	Nature Genetics	2016
26821284	TALEN-mediated enhancer knockout influences TNFAIP3 gene expression and mimics a molecular phenotype associated with systemic lupus erythematosus.	Genes and Immunity	2016
26713507	X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and SjÃ¶gren's Syndrome.	Arthritis Rheumatol	2016
26316170	Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.	Arthritis Rheumatol	2016
26606652	Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.	Arthritis Rheumatol	2016