Paul Auer, PhD

Publications

• Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

  (Orchard P, Blackwell TW, Kachuri L, Castaldi PJ, Cho MH, Christenson SA, Durda P, Gabriel S, Hersh CP, Huntsman S, Hwang S, Joehanes R, Johnson M, Li X, Lin H, Liu CT, Liu Y, Mak ACY, Manichaikul AW, Paik DT, Saferali A, Smith JD, Taylor KD, Tracy RP, Wang J, Wang M, Weinstock JS, Weiss J, Wheeler HE, Zhou Y, Zöllner S, Wu JC, Mestroni L, Graw S, Taylor MRG, Ortega VE, Johnson WC, Gan W, Abecasis G, Nickerson DA, Gupta N, Ardlie K, Woodruff PG, Bowler RP, Meyers DA, Reiner A, Kooperberg C, Ziv E, Vasan RS, Larson MG, Cupples LA, Silverman EK, Rich SS, Heard-Costa N, Tang H, Rotter JI, Smith AV, Levy D, NHLBI TOPMed Consortium Multi-Omics Working Group32, NHLBI TOPMed Consortium32§, Aguet F, Scott LJ, Raffield LM, Parker SCJ, Abe N, Almasy L, Ament S, Anugu P, Auer P, Avramopoulos D, Balasubramanian A, Barr RG, Barwick L, Beaty T, Becker D, Becker L, Beitelshees A, Benos T, Bezerra M, Bis J, Brody J, Broeckel U, Broome J, Bunting K, Buth E, Carey V, Carty C, Casaburi R, Chaffin M, Chang C, Chang YC, Chavan S, Chen BJ, Chen WM, Choi SH, Chuang LM, Chung RH, Conomos M, Cornell E, Crandall C, Crapo J, Curtis J, Damcott C, David S, de Las Fuentes L, de Vries P, Deka R, DeMeo D, Devine S, Dinh H, Doddapaneni H, Duan Q, Duggirala R, Eaton C, Ekunwe L, El Boueiz A, Emery L, Farber C, Farek J, Franceschini N, Frazar C, Fu M, Fullerton SM, Fulton L, Gao S, Gao Y, Gass M, Geiger H, Ghosh A, Gignoux C, Glahn D, Gogarten S, Gong DW, Goring H, Grine D, Gu CC, Guan Y, Hall M, Han Y, Harris D, Heavner B, Herrington D, Hobbs B, Hong E, Hoth K, Hsiung CA, Hu J, Hung YJ, Huston H, Hwu CM, Jackson R, Jain D, Johnsen J, Johnston R, Jones K, Kessler M, Khan A, Khan Z, Kim W, Kimoff J, Kinney G, Kramer H, Lange C, Lange E, Laurie C, Laurie C, LeBoff M, Lee S, Lee WJ, Levine D, Lewis J, Li Y, Lin X, Liu S, Liu Y, Make B, Manning A, Manson J, Martin L, Marton M, Mathai S, May S, McArdle P, McDonald ML, McFarland S, McGoldrick D, McHugh C, Mei H, Meigs J, Menon V, Min N, Moll M, Momin Z, Montasser M, Mychaleckyj JC, Naik R, Naseri T, Natarajan P, Nelson SC, Neltner B, Nessner C, Nkechinyere O, O'Connell J, O'Connor T, Ochs-Balcom H, Okwuonu G, Pankow J, Parker C, Peloso G, Peralta JM, Perez M, Perry J, Peters U, Phillips LS, Pollin T, Becker JP, Boorgula MP, Psaty B, Qiao D, Rafaels N, Rajendran M, Rasmussen-Torvik L, Ratan A, Reed R, Regan E, Reupena MS, Robillard R, Roselli C, Ruczinski I, Runnels A, Russell P, Ryan K, Sabino EC, Salimi S, Salvi S, Salzberg S, Sandow K, Santibanez J, Schwander K, Sciurba F, Sériès F, Shetty A, Shetty A, Silver B, Skomro R, Smith T, Smoller S, Snively B, Stilp AM, Storm G, Streeten E, Su JL, Sung YJ, Sylvia J, Szpiro A, Taub M, Taylor S, Thornton TA, Threlkeld M, Tinker L, Tirschwell D, Tiwari H, Tong C, Tsai M, Vaidya D, Walker T, Wallace R, Walts A, Wang FF, Wang H, Watson K, Watt J, Weng LC, Wessel J, Williams K, Wilson C, Wilson J, Winterkorn L, Wong Q, Wu B, Xu H, Yanek L, Yang I, Zekavat SM, Zhao SX, Zhao W, Zhu X.) Science. 2026 Jul 16;393(6808):eadx2989 PMID: 42462027 SCOPUS ID: 2-s2.0-105045591152 07/16/2026

• Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.

  (Saw WY, Kim K, Huang Y, Yun JH, Ma X, Bacon J, Pershad Y, Levy D, O'Connor GT, Boerwinkle E, Barr RG, Rich SS, Rotter JI, Carson AP, Raffield LM, Gharib SA, Bartz TM, Psaty BM, Sofer T, North KE, Kaplan RC, Oelsner EC, Manichaikul A, Bick AG, Scheet P, Reiner AP, NHLBI Trans-Omics for Precision Medicine Consortium, Jakubek YA, Auer PL, Cho MH, DeMeo DL.) Am J Respir Crit Care Med. 2026 Jul 01;212(7):1483-1494 PMID: 42085243 PMCID: PMC13322295 SCOPUS ID: 2-s2.0-105043543172 05/05/2026

• Alterations of Plasma Metabolites Associated with Sickle Cell Trait.

  (Cai Y, Surapaneni A, Vasconcelos AG, Johnson M, Hsu L, Sun W, Kooperberg C, Yu B, Yeo WJ, Auer PL, Grams ME, Franceschini N, Raffield LM, Reiner AP.) Clin J Am Soc Nephrol. 2026 Jul 01;21(7):1135-1148 PMID: 41758580 PMCID: PMC13283685 02/27/2026

• Deep learning on genome-wide association studies to predict the patient-specific risk of radiation-induced erectile dysfunction.

  (Oh JH, Auer P, Hall W, Rosenstein BS, Deasy JO, Kerns S.) Radiother Oncol. 2026 Jun;219:111531 PMID: 41967608 PMCID: PMC13135471 SCOPUS ID: 2-s2.0-105035768838 04/13/2026

• Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk.

  (Barnao KM, Hubbard AK, Chan ICC, Zhou W, Jakubek YA, Genovese G, Wong WSW, Kelly RL, Young CD, Brown DW, Huang WY, Freedman ND, Jones K, Hutchinson A, Hicks B, Tran D, Arnett D, Barnes KC, Bis JC, Boerwinkle E, Brody JA, Carson AP, Chasman DI, Cho MH, Desai P, Doyle MF, Fornage M, Guo X, Heard-Costa N, Irvin MR, Johnson AD, Kardia SLR, Kooperberg C, Levy D, Lewis JP, Li Y, Loos RJF, Mack TM, Mathias RA, Mitchell BD, North KE, Pankratz N, Peyser PA, Preuss MH, Psaty BM, Raffield LM, Redline S, Rich SS, Rotter JI, Silverman EK, Smith AV, Smith JA, Stilp A, Cao Y, Scheet P, Reiner AP, Bick AG, Chanock SJ, Auer PL, Bolton KL, Machiela MJ.) Nat Commun. 2026 May 21;17(1) PMID: 42168198 PMCID: PMC13385913 05/22/2026

• Whole Blood Transcriptomic Analysis of Sickle Cell Trait.

  (Johnson M, Cai Y, Vasconcelos AG, Orchard P, Auer PL, Lettre G, Wen J, Franceschini N, Kooperberg C, Sun W, Hsu L, Raffield LM, Reiner AP.) Eur J Haematol. 2026 May;116(5):535-544 PMID: 41528117 PMCID: PMC13050677 01/13/2026

• Fine Mapping of MHC Region Identifies Novel Susceptibility Loci in Multiple Myeloma When Comparing With Its Precursor Monoclonal Gammopathy of Unknown Significance.

  (Arsang-Jang S, Massat B, Pareek G, Han J, Thapa B, Patek V, Nader Z, Auer PL, Zimmerman MT, Urrutia R, Hari P, D'Souza A, Dhakal B, Janz S, Dong J.) HLA. 2026 Feb;107(2):e70589 PMID: 41685425 PMCID: PMC12902906 SCOPUS ID: 2-s2.0-105029925738 02/13/2026

• cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.

  (Van Buren E, Zhang Y, Li X, Selvaraj MS, Li Z, Zhou H, Palmer ND, Arnett DK, Blangero J, Boerwinkle E, Cade BE, Carlson JC, Carson AP, Chen YI, Curran J, Duggirala R, Fornage M, Franceschini N, Graff M, Gu C, Guo X, He J, Heard-Cosa N, Hou L, Hung YJ, Kalyani RR, Kardia SLR, Kenny E, Kooperberg C, Kral BG, Lange L, Levy D, Li C, Liu S, Lloyd-Jones D, Loos RJF, Manichaikul AW, Martin LW, Mathias R, Minster RL, Mitchell BD, Mychaleckyj JC, Naseri T, North K, O'Connell J, Perry JA, Peyser PA, Psaty BM, Raffield LM, Vasan RS, Redline S, Reiner AP, Rich SS, Smith JA, Spitzer B, Tang H, Taylor KD, Tracy R, Viali S, Yanek L, Zhao W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Rotter JI, Peloso GM, Natarajan P, Lin X.) Nat Methods. 2026 Feb;23(2):338-349 PMID: 41476111 PMCID: PMC13284854 SCOPUS ID: 2-s2.0-105027787046 01/01/2026

• Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.

  (Billaud A, Figlioli G, Mooser C, Casamassima I, Azzoni V, Srivatsa J, Colombo M, Caleca L, Ahearn TU, Andrulis IL, Antoniou AC, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bolla MK, Bonanni B, Brüning T, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, NBCS Collaborators, Czene K, Dennis J, Devilee P, Dörk T, Dunning AM, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Gabrielson M, Gago-Dominguez M, González-Neira A, Guénel P, Hadjisavvas A, Hahnen E, Hamann U, Hillemanns P, Hollestelle A, Hooning MJ, Hoppe R, Howell A, kConFab Investigators, Jakubowska A, Kristensen VN, Lubiński J, Lush M, Manoukian S, Mavroudis D, Milne RL, Mulligan AM, Newman WG, Obi N, Panayiotidis MI, Pita G, Rashid MU, Rhenius V, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Southey MC, Spurdle AB, Tomlinson I, Truong T, Wang Q, Wendt C, Auer PL, Boddicker NJ, Bodelon C, Burnside ES, Chen F, Couch FJ, Domchek SM, Eliassen HA, Haiman C, Hodge JM, Hu C, Huang H, Lindstrom S, Martinez ME, Nathanson KL, Neuhausen SL, O'Brien KM, Olson JE, Palmer JR, Patel AV, Ruddy KJ, Sandler DP, Teras LR, Weinberg CR, Weitzel JN, Winham SJ, Yadav S, Yao S, Zirpoli G, Janatova M, Kleibl Z, Kleiblova P, Soukupova J, CZECANCA consortium, Zhao Q, Devereux L, James PA, Campbell IG, Nguyen-Dumont T, Dowty JG, Andrieu N, Lesueur F, Stoppa-Lyonnet D, GENESIS, Hoya M, Radice P, Sørensen CS, Peterlongo P.) Breast. 2026 Feb;85:104619 PMID: 41223770 PMCID: PMC12657754 11/13/2025

• Autoimmune HLA alleles and neoantigens predict myelodysplastic syndrome outcomes after allogeneic HSCT: A CIBMTR analysis.

  (Sears T, Kurzrock R, Zhang T, Dong J, Spellman SR, Goodman AM, Bolon YT, Chen Z, Auer P, Saber W, Carter H.) iScience. 2026 Jan 16;29(1):114326 PMID: 41550735 PMCID: PMC12804621 SCOPUS ID: 2-s2.0-105027049401 01/19/2026

• Novel Genomic Biomarkers Improve Post-Hematopoietic Cell Transplantation Relapse Risk Stratification for Patients With Myelodysplastic Syndromes.

  (Zhang T, Auer PL, Dong J, Chen Z, Spellman SR, Saber W, Bolon YT.) JCO Precis Oncol. 2026 Jan;10:e2500140 PMID: 41576307 PMCID: PMC12932076 SCOPUS ID: 2-s2.0-105035092780 01/23/2026

• Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation.

  (Liu C, Joehanes R, Ma J, Xie J, Yang J, Wang M, Huan T, Hwang SJ, Wen J, Sun Q, Demirkale CY, Heard-Costa NL, Orchard P, Carson AP, Haessler JW, Raffield LM, Reiner AP, Franceschini N, Auer PL, Kooperberg C, Li Y, O'Connor G, Murabito JM, Munson P, Levy D.) Nat Commun. 2025 Nov 22;16(1):10615 PMID: 41274869 PMCID: PMC12660940 11/23/2025