Publications

Advani J, Mehta PA, Hamel AR, Kiel C, Mehrotra S, Diaz XC, Kwicklis M, van Asten F, Ratnapriya R, Hernandez DG, Strunz T, Ferrington DA, Weber BHF, Segrè AV#, Swaroop A#. Integration of human retinal DNA methylome with genetic variants and gene expression identifies regulatory epigenetic mechanisms in age-related macular degeneration. Accepted at Nature Communications. 2024. #Co-senior and co-corresponding authors. 

Hamel AR, Yan W#, Rouhana JM#, Monovarfeshani A#, Jiang X, Mehta PA, Advani J, Luo Y, Liang Q, Rajasundaram S, Shrivastava A, Duchinski K, Mantena S, Wang J, van Zyl T, Pasquale LR, Swaroop A, Gharahkhani P, Khawaja AP, MacGregor S; International Glaucoma Genetics Consortium (IGGC); Chen R, Vitart V, Sanes JR, Wiggs JL, Segrè AV. Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma. Nature Communications. 2024 Jan 9;15(1):396. PMID: 38195602. #Co-second equally contributing authors. 

Rajasundaram S, Zebardast N, Mehta P, Khawaja AP, Warwick A, Duchinski K, Burgess S, Gill D, Segrè AV# and Wiggs J#. TIE1 and TEK signalling, intraocular pressure, and primary open-angle glaucoma: a Mendelian randomization study. Journal of Translational Medicine. 2023 21:847. #Co-senior authors. PMID: 37996923. 

Gokcen Eraslan*, Eugene Drokhlyansky*, Shankara Anand‡, Evgenij Fiskin‡, Ayshwarya Subramanian‡, Michal Slyper‡, Jiali Wang‡, Nicholas Van Wittenberghe, John M. Rouhana, Julia Waldman, Orr Ashenberg, Monkol Lek, Danielle Dionne, Thet Su Win, Michael S. Cuoco, Olena Kuksenko, Alexander M. Tsankov, Philip A. Branton, Jamie L. Marshall, Anna Greka, Gad Getz,  Ayellet V. Segrè#,  François Aguet#,  Orit Rozenblatt-Rosen#,  Kristin G. Ardlie#,  Aviv Regev#. Single-nucleus cross-tissue molecular reference maps towards understanding disease gene function. Science. 2022. 376(6954): eabl4290. DOI: 10.1126/science.abl4290. Co-first authors, these authors contributed equally. ‡Co-second authors, these authors contributed equally. # Co-senior and co-corresponding author.

John M. Rouhana, Jiali Wang, Gokcen Eraslan, Shankara Anand, Andrew R. Hamel, Brian Cole, Aviv Regev, François Aguet, Kristin G. Ardlie, Ayellet V. Segrè. ECLIPSER: identifying causal cell types and genes for complex traits through single cell enrichment of e/sQTL-mapped genes in GWAS loci. bioRxiv 2022. 

Lucia Sobrin, Gayatri Susarla, Lynn Stanwyck, John M Rouhana, Ashley Li, Samuela Pollack, Robert P Igo Jr, Richard A Jensen, Xiaohui Li, Maggie CY Ng, Albert V Smith, Jane Z Kuo, Kent D Taylor, Barry I Freedman, Donald W Bowden, Alan Penman, Ching J Chen, Jamie E Craig, Sharon G Adler, Emily Y Chew, Mary Frances Cotch, Brian Yaspan, Paul Mitchell, Jie Jin Wang, Barbara EK Klein, Tien Y Wong, Jerome I Rotter, Kathyrn P Burdon, Sudha K Iyengar, Ayellet V Segrè. Gene Set Enrichment Analyses Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy . Am J Ophthalmol. 2021 Jun 21;S0002-9394(21)00336-6. doi: 10.1016/j.ajo.2021.06.014.

GTEx Consortium†. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science. 2020 Sep 10-2;369(6509):1318-1330. DOI: 10.1126/science.aaz1776.

†Segrè AV is a co-analyst and member of the Laboratory and Data Analysis Coordinating Center, Analysis Working Group and Manuscript Working Group

Kim-Hellmuth S, Aguet F, Oliva M, Muñoz-Aguirre M, Wucher V, Kasela S, Castel SE, Hamel AR, Viñuela A, Roberts AL,  Mangul S,  Wen X, Wang G, Barbeira AN, Garrido-Martín D, Nadel B, Zou Y, Bonazzola R, Quan J, Brown A, Martinez-Perez A, Soria JM, GTEx Consortium, Getz G, Dermitzakis ET, Small KS, Stephens M, Xi HS, Im HK, Guigó R, Segrè AV, Stranger BE, Ardlie KG, Lappalainen T. Cell type specific genetic regulation of gene expression across human tissues. Science. 2020 Sep 10-2;369(6509), eaaz8528. DOI: 10.1126/science.aaz8528

Gamazon ER*,†, Segrè AV*,†, van de Bunt M*, Wen X, Xi SH, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J, GTEx Consortium, Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG. Using an atlas of gene regulation across 44 human tissues to illuminate complex disease- and trait associated variation. Nature Genetics, online publication June 28, 2018. *Co-first authors, listed alphabetically, †Co-corresponding authors.

GTEx Consortium*.Genetic effects on gene expression across human tissues. Nature. 2017 Oct 12;550(7675):204-213. *Segrè AV is co-lead analyst.

Hormozdiari F, van de Bunt M, Segrè AV, Li X, Joo JWJ, Bilow M, Sul JH, Sankararaman S, Pasaniuc B, Eskin E. Colocalization of GWAS and eQTL Signals Detects Target Genes. Am J Hum Genet. 2016 Dec 1;99(6):1245-1260.

GTEx Consortium*. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 2015 May 8;348(6235):648-60. *Segrè AV is a member of the GTEx Analysis Working Group.

Segrè AV, Wei N; DIAGRAM Consortium; MAGIC Investigators, Altshuler D, Florez JC. Pathways targeted by antidiabetes drugs are enriched for multiple genes associated with type 2 diabetes risk. Diabetes. 2015 Apr;64(4):1470-83.