Publications

All Publications: Google Scholar , PubMed

Selected Publications:

Gokcen Eraslan*, Eugene Drokhlyansky*, Shankara Anand**, Ayshwarya Subramanian**, Evgenij Fiskin**, Michal Slyper**, Jiali Wang**, Nicholas Van Wittenberghe, John M. Rouhana, Julia Waldman, Orr Ashenberg, Danielle Dionne, Thet Su Win, Michael S. Cuoco, Olena Kuksenko, 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 to decipher disease gene function. BioRxiv 2021. https://doi.org/10.1101/2021.07.19.452954. Under revision at Science. *Co-first authors, these authors contributed equally. **Co-second authors, these authors contributed equally.

# Co-senior and co-corresponding authors.


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.

Segrè AV; DIAGRAM Consortium; MAGIC investigators, Groop L, Mootha VK, Daly MJ, Altshuler D. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genetics 2010 Aug 12;6(8). pii: e1001058.

Segrè AV, Murray AW, Leu JY. High-resolution mutation mapping reveals parallel experimental evolution in yeast. PLoS Biology 2006 Jul;4(8):e256.