Author

John B. Harley

Cincinnati Children's Hospital Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Same name, identified by ORCID

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2 Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 6 Approach:statistical model· 5 Research Focus:GWAS / association mapping· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Assay:GWAS summary statistics· 2 Assay:Hi-C· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Leah Claire KottyaniD· 4 shared Matthew T. WeirauchiD· 3 shared Sreeja ParameswaraniD· 3 shared Carmy R. ForneyiD· 2 shared Daniel Miller· 2 shared Iouri ChepeleviD· 2 shared Lisa Joy MartiniD· 2 shared Michael W. PauciuloiD· 2 shared

Activity by Year

2018-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Leah Claire KottyanORCID

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Author profile →

6 papers

Recent·Most cited

Sequencing and health data resource of children of African ancestry

Leah Claire Kottyan, Scott Richards, Morgan E Tracy, Lucinda P. Lawson, Isabelle C. Kottyan, Annika Curwin, Beth A. Cobb, Steve Esslinger, Margaret Gerwe, James Morgan, Alka Chandel, Leksi Travitz, Yongbo Huang, Catherine Black, Agboade Sobowale, , Kenneth M. Kaufman

The paper presents a genetic resource of 15,684 individuals of African ancestry, demonstrating its utility in replicating and discovering disease associations.

Genetics in Medicine · Mar 1, 2026Peer-reviewedGenetic & Genomic Medicine

Regulatory architecture of the RCA gene cluster captures an intragenic TAD boundary, CTCF-mediated chromatin looping and a long-range intergenic enhancer

Jessica Cheng, Joshua S. Clayton, Rafael D. Acemel, Ye Zheng, Rhonda L. Taylor, Sündüz Keleş, Martin Franke, Susan A. Boackle, John B. Harley, Elizabeth A. Quail, José Luis Gómez-Skármeta, Daniela Ulgiati

The paper identifies regulatory elements and chromatin structures in the RCA gene cluster, revealing long-range interactions and a TAD boundary within CR1 that influence gene expression and autoimmune disease susceptibility.

Frontiers in Immunology · Jun 13, 2022Peer-reviewedGenetics

Epstein-Barr virus nuclear antigen 2 (EBNA2) extensively rewires the human chromatin landscape at autoimmune risk loci

Ted Hong, Sreeja Parameswaran, Omer A. Donmez, Daniel Miller, Carmy R. Forney, Michael Lape, Mariana Saint Just Ribeiro, Jun Liang, Lee Edsall, Albert Frank Magnusen, William E. Miller, Iouri Chepelev, John B. Harley, Bo Zhao, Leah Claire Kottyan, Matthew T. Weirauch

This study shows EBNA2 alters chromatin structure and gene expression at autoimmune risk loci, linking viral infection to genetic risk mechanisms in autoimmune diseases.

Genome Research · Dec 1, 2021Peer-reviewedGenomics

Genome-wide discovery of lupus genetic risk variant allelic regulatory activity

Xiaoming Lu, Xiaoting Chen, Carmy R. Forney, Omer A. Donmez, Daniel Miller, Sreeja Parameswaran, Ted Hong, Yongbo Huang, Mario Andres Pujato, Tareian A. Cazares, Emily R. Miraldi, John Ray, Carl G. de Boer, John B. Harley, Matthew T. Weirauch, Leah Claire Kottyan

The paper identifies 482 SLE risk variants with enhancer activity and characterizes allelic regulatory mechanisms at 27 risk loci using MPRA.

Nature Communications · Mar 12, 2021Peer-reviewedGenomics

Meta-analysis of 208,370 East Asians identifies 113 genomic loci and yields new non-immune cell relevant biological insights for systemic lupus erythematosus

Xianyong Yin, Kwang-Woo Kim, Hiroyuki Suetsugu, So‐Young Bang, Leilei Wen, Masaru Koido, Eunji Ha, Lu Liu, Yuma Sakamoto, Sungsin Jo, Rui‐Xue Leng, Nao Otomo, Viktoryia Laurynenka, Young-Chang Kwon, Yujun Sheng, , Sang‐Cheol Bae

This study identifies 113 genomic loci for SLE in East Asians, including 46 novel loci, and highlights non-immune cell-related biological mechanisms.

Annals of the Rheumatic Diseases · Dec 3, 2020Peer-reviewedGenetic & Genomic Medicine

Genetic determinants of risk and survival in pulmonary arterial hypertension

Christopher J. Rhodes, Ken Batai, Marta Bleda, Matthias Haimel, Laura Southgate, Marine Germain, Michael W. Pauciulo, Charaka Hadinnapola, Jurjan Aman, Barbara Girerd, Amit Arora, Jo Knight, Ken Benjamin Hanscombe, Jason H. Karnes, Marika Kaakinen, , Quinten Waisfisz

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

The Lancet Respiratory Medicine · Dec 5, 2018Peer-reviewedGenetics