Publications
2026
[7]-
Genetic association and machine learning improve the prediction of type 1 diabetes risk
McGrail C, Sears TJ, Griffin EN, Ghaben AL, Smadbeck P, Flannick J, Kudtarkar P, Carter H, Gaulton KJ
Nature Genetics, 2026
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ATM Deficiency Induces TGFβ-Mediated Stromal Programming in Pancreatic Cancer
Roger E, Mummey HM, Zimmer E, Srinivasan D, Härle A, Moubri L, Michels AK, Singh R, Ekizce M, Melzer MK, Lee Y, Silva A, Härle L, Engleitner T, Arnold F, Morawe M, Naggay BK, Schneider J, Gilberg L, Mosler JP, Ludwig C, Meng C, Hirschenberger M, Hunszinger V, Kluck K, Kirchner M, Volckmar AL, Wirth M, Alhamdani MSS, Hoheisel JD, Löhr JM, Seufferlein T, Abaei A, Kemkemer R, Rad R, Budczies J, Mulaw MA, Hermann PC, Haenle MM, Sparrer KMJ, Halbrook CJ, Gaulton KJ, Steinestel K, Stenzinger A, Dusetti N, Perkhofer L, Gout J, Kleger A
Cancer Research, 2026
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PanKbase Integrated Single-Cell Map: A Comprehensive Atlas of Human Pancreatic Islets
Vu HTH, Sun H, Kudtarkar P, Sharp SA, Brusman L, Jurgens JA, PanKbase Consortium, Flannick J, Burtt NP, Chen S, Liu J, Cartailler JP, Voight BF, Stitzel ML, Brissova M, Gloyn AL, Gaulton KJ, Parker SCJ
bioRxiv, 2026
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The Common Fund Data Ecosystem (CFDE)
Jurgens JA, Bueckle A, Vora J, Maurya MR, Ahooyi TM, Zheng E, Stear B, Wang D, Ree C, Ramachandran S, Nekrutenko A, Brandes M, Thaker S, Katz DH, Munoz-Torres MC, Diamant I, Chun HJE, Simmons JA, Tasian SK, Jenkins SL, Evangelista JE, Dodia H, Saha S, Lindquist MA, Gajjala V, Nemarich C, Zhen J, Ross KE, Byrd AI, Shilin A, Metzger VT, Bologa CG, Srinivasan S, Jang D, Kumar P, Taub LD, Levanto MP, Petrosyan V, Anandakrishnan M, Kim M, Clarke DJB, Ivich A, Crichton DJ, Smallen S, Bordelon D, Chen C, Schroeder AJ, Mahabal A, Cao-Berg I, Kim S, Masood D, Yu K, Gaulton KJ, Jimenez-Morales D, Rincon JM, Honick BJ, Wang W, Wu CH, Milosavljevic A, Blood PD, Boline J, Oprea TI, Lambert CG, de Bono B, Park PJ, Silverstein JC, Flannick J, Yang JJ, Grethe JS, Subramaniam S, Tiemeyer M, Clark T, Wheeler MT, Kahn A, Burnette J, Ranzinger R, Schatz MC, Gibson L, Burtt NP, Carson JP, Chen JY, Ping P, Davis S, Taylor DM, Börner K, Dillman A, Bursey K, Ma'ayan A, CFDE Consortium, Mazumder R, Roth ME, Greene CS
bioRxiv, 2026
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Functional genomics reveals mediators of beta cell survival in ER stress and type 2 diabetes risk
Okino ML, Zhu H, Corban S, Benaglio P, Djulamsah J, O'Mahony B, Vanderstel K, Elgamal R, Miller M, Wang A, Sander M, Gaulton KJ
bioRxiv, 2026
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A new mRNA antigen vaccine induces potent B and T cell responses and in vivo protection against SARS-CoV-2
Wen J, Moon J, Tucciarone L, Bu TH, Sun AY, Miller R, Timis J, Wu L, Smith DM, Shresta S, Gaulton KJ, Rana TM
npj Vaccines, 2026
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Cell-type specific impact of opioid use disorder and HIV on the human forebrain and cerebellum
Green AA, Vashist TD, Jakhmola S, Chen X, Baidwan G, Buchanan J, Tiwari SK, Griffin E, Howell A, Lee Y, Moore DJ, Gianella S, Smith DM, Zhu Q, Walss-Bass C, Wang A, Mukamel EA, Gaulton KJ, Rana TM
bioRxiv, 2026
2025
[8]-
Single-cell multiome and spatial profiling reveals pancreas cell type-specific gene regulatory programs of type 1 diabetes progression
Melton R, Jimenez S, Elison W, Tucciarone L, Howell A, Wang G, Berti D, Beebe E, Miller M, Zeng C, McGrail C, VanderStel K, Korgaonkar K, Elgamal R, Mummey H, Chiou J, Griffin E, Kusmartseva I, Atkinson M, Preissl S, Theis FJ, Sander M, Gaulton KJ
Science Advances, 2025
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Altered immune and metabolic molecular pathways drive islet cell dysfunction in human type 1 diabetes
Dos Santos T, Dai XQ, Jones RC, Spigelman AF, Mummey HM, Ewald JD, Ellis CE, Lyon JG, Smith N, Bautista A, Manning Fox JE, Neff NF, Detweiler AM, Tan M, Arrojo e Drigo R, Xia J, Camunas-Soler J, Gaulton KJ, Quake SR, MacDonald PE
The Journal of Clinical Investigation, 2025
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Single cell and spatial characterization of the human pancreas reveals drivers of beta cell dysfunction in cystic fibrosis
Mummey HM, Corban S, Lucero J, Melton RL, Pittigher M, Johnston VC, Deutsch GH, D'Antonio-Chronowska A, Wang A, Hull-Meichle RL, Gaulton KJ
bioRxiv, 2025
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Polycomb repressive complexes 1 and 2 independently and dynamically regulate euchromatin during cerebellar neurodevelopment
Parmar A, Srinivasan A, Krockenberger L, Augustine A, Gong O, Bullard AC, Kalra R, Ledvin L, Pilz D, Tawil J, Tea CE, Wang KC, Urso O, Kaube LM, Sun Y, Sasik R, Gaulton KJ, Fisch KM, Ferguson CJ
PLoS Genetics, 2025
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Single cell multiomics reveals drivers of metabolic dysfunction-associated steatohepatitis
Elison W, Chang L, Xie Y, Miciano C, Yang Q, Mummey H, Lancione R, Corban S, Sakane S, Lucero J, Mamde S, Kim HY, Kim MJ, Melton R, Tucciarone L, Lie A, Loe T, Vashist T, Dang K, Elgamal R, Li D, Vu M, Farah EN, Seng C, Djulamsah J, Yang B, Buchanan J, Miller M, Tran M, Ochoa Birrueta J, Chi NC, Wang T, D'Antonio-Chronowska A, Wang A, Kisseleva T, Brenner D, Ren B, Gaulton KJ
medRxiv, 2025
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Single cell multiomics and 3D genome architecture reveal novel pathways of human heart failure
Xie Y, Tucciarone L, Farah EN, Chang L, Yang Q, Shankar TS, Elison W, Tran S, Djulamsah J, Lie A, Loe T, Holman AR, Corban S, Buchanan J, Mamde S, Zhou H, Elgamal RM, Tseliou E, Huang V, Wang Z, Chiu J, Melton R, Griffin E, Zhang Q, Lucero J, Navankasattusas S, Li D, Seng C, Destici E, Selzman CH, D'Antonio-Chronowska A, Wang T, Wang A, Drakos SG, Gaulton KJ, Ren B, Chi NC
medRxiv, 2025
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CFTR Gene Regulation in Human Pancreatic Duct, Bile Duct and Sweat Gland Epithelial Cells
Umrigar A, Lovrenert K, Kerschner JL, Sharma N, Tian B, Melton R, Mun KS, Vaghela N, Ogawa M, Rosson GD, Ogawa S, Naren AP, Gaulton KJ, Leir SH, Harris A
Journal of Cellular and Molecular Medicine, 2025
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Genetic discovery and risk prediction for type 1 diabetes in individuals without high-risk HLA-DR3/DR4 haplotypes
McGrail C, Chiou J, Elgamal R, Luckett A, Oram R, Benaglio P, Gaulton KJ
Diabetes Care, 2025 Feb;48(2):202-211
2024
[7]-
Deciphering the impact of genomic variation on function
IGVF Consortium
Nature, 2024 Sep;633(8028):47-57
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Untangling the genetics of beta cell dysfunction and death in type 1 diabetes
Robertson CC, Elgamal RM, Henry-Kanarek BA, Arvan P, Chen S, Dhawan S, Eizirik DL, Kaddis JS, Vahedi G, Parker S, Gaulton KJ, Soleimanpour SA
Mol Metab, 2024 Aug;86:101973
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The single-cell opioid responses in the context of HIV (SCORCH) consortium
Ament SA, Campbell RR, Lobo MK, Receveur JP, Agrawal K, Borjabad A, Byrareddy SN, Chang L, Clarke D, Emani P, Gabuzda D, Gaulton KJ, Giglio M, Giorgi FM, Gok B, Guda C, Hadas E, Herb BR, Hu W, Huttner A, Ishmam MR, Jacobs MM, Kelschenbach J, Kim DW, Lee C, Liu S, Liu X, Madras BK, Mahurkar AA, Mash DC, Mukamel EA, Niu M, O'Connor RM, Pagan CM, Pang APS, Pillai P, Repunte-Canonigo V, Ruzicka WB, Stanley J, Tickle T, Tsai SYA, Wang A, Wills L, Wilson AM, Wright SN, Xu S, Yang J, Zand M, Zhang L, Zhang J, Akbarian S, Buch S, Cheng CS, Corley MJ, Fox HS, Gerstein M, Gummuluru S, Heiman M, Ho YC, Kellis M, Kenny PJ, Kluger Y, Milner TA, Moore DJ, Morgello S, Ndhlovu LC, Rana TM, Sanna PP, Satterlee JS, Sestan N, Spector SA, Spudich S, Tilgner HU, Volsky DJ, White OR, Williams DW, Zeng H
Mol Psychiatry, 2024 Jun 15
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Multi-ancestry Polygenic Mechanisms of Type 2 Diabetes Elucidate Disease Processes and Clinical Heterogeneity
Smith K, Deutsch AJ, McGrail C, Kim H, Hsu S, Mandla R, Schroeder PH, Westerman KE, Szczerbinski L, Majarian TD, Kaur V, Williamson A, Claussnitzer M, Florez JC, Manning AK, Mercader JM, Gaulton KJ, Udler MS
Nat Med, 30(4):1065-1074
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Single cell regulatory architecture of human pancreatic islets suggests sex differences in β cell function and the pathogenesis of type 2 diabetes
Qadir M, Elgamal RM, Song K, Kudtarkar P, Sakamuri S, Katakam PV, El-Dahr S, Kolls J, Gaulton KJ, Mauvais-Jarvis F
EMBO J, 2024
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Single cell multiome profiling of pancreatic islets reveals physiological changes in cell type-specific regulation associated with diabetes risk
Mummey H, Elison W, Korgaonkar K, Elgamal R, Kudtarkar P, Griffin E, Benaglio P, Miller M, Jha A, Manning Fox JE, Mccarthy M, Preissl S, Gloyn AL, Macdonald PE, Gaulton KJ
bioRxiv, 2024.08.03.606460
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Circulating pancreatic enzyme levels are a causal biomarker of type 1 diabetes
Elgamal R, Melton R, Chiou J, McGrail C, Gaulton KJ
medRxiv, 2024.08.08.24311619
2023
[10]-
Genetics of Type 1 Diabetes
Redondo MJ, Onengut-Gumuscu S, Gaulton KJ
Diabetes in America, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); 2023
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Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research
Costanzo MC, Roselli C, Brandes M, Duby M, Hoang Q, Jang D, Koesterer R, Kudtarkar P, Moriondo A, Nguyen T, Ruebenacker O, Smadbeck P, Sun Y, Butterworth AS, Aragam KG, Lumbers RT, Khera AV, Lubitz SA, Ellinor PT, Gaulton KJ, Flannick J, Burtt NP
Circ Genom Precis Med, 2023 Oct 10:e004181
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Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal
Kudtarkar P, Costanzo MC, Sun Y, Jang D, Koesterer R, Mychaleckyj JC, Nayak U, Onengut-Gumuscu S, Rich SR, Flannick J, Gaulton KJ, Burtt NP
PLOS biology, 2023
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An integrated map of cell type-specific gene expression in pancreatic islets
Elgamal RM, Kudtarkar P, Melton RL, Mummey HM, Benaglio P, Okino M, Gaulton KJ
Diabetes, 2023
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Interpreting non-coding disease-associated variants using single-cell epigenomics
Gaulton KJ, Preissl S, Ren B
Nat Rev Genet, 2023 May 9
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Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex trait variants using single nucleus ATAC-seq
Benaglio P, Newsome J, Han JY, Chiou J, Aylward A, Corban S, Okino M, Kaur J, Gorkin DU, Gaulton KJ
Plos Genet, 2023
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Integration of single-cell multiomic measurements across disease states with genetics identifies mechanisms of beta cell dysfunction in type 2 diabetes
Wang G, Chiou J, Zeng C, Miller M, Matta I, Han JY, Kadakia N, Okino M, Beebe E, Mallick M, Camunas-Soler J, dos Santos T, Dai X, Ellis C, Hang Y, Kim SK, Macdonald PE, Kandeel FR, Preissl S, Gaulton KJ, Sander M
Nat Genet, 2023
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Integrated Physiology of the Exocrine and Endocrine Compartments in Pancreatic Diseases: Workshop Proceedings
Mastracci TL, Apte M, Amundadottir LT, Alvarsson A, Artandi S, Bellin MD, Bernal-Mizrachi E, Caicedo A, Campbell-Thompson M, Cruz-Monserrate Z, El Ouaamari A, Gaulton KJ, Geisz A, Goodarzi MO, Hara M, Hull-Meichle RL, Kleger A, Klein AP, Kopp JL, Kulkarni RN, Muzumdar MD, Naren AP, Oakes SA, Olesen SS, Phelps EA, Powers AC, Stabler CL, Tirkes T, Whitcomb DC, Yadav D, Yong J, Zaghloul NA, Sander M, Pandol SJ
Pancreas, 2022 Oct 1;51(9):1061-1073
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Improving stem cell-derived pancreatic islets using single-cell multiome-inferred regulomes
Zhu H, Wang G, Nguyen-Ngoc K, Kim D, Miller M, Goss G, Kovsky J, Harrington AR, Saunders D, Melton R, Powers AC, Preissl S, Spagnoli FM, Gaulton KJ, Sander M
Dev Cell, 2023 May 8;58(9):727-743.e11
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The Type 2 Diabetes Knowledge Portal: an open access genetic resource dedicated to type 2 diabetes and related traits
Costanzo M, Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, Gilbert C, Welch RP, Kudtarkar P, Hoang Q, Boughton AP, Singh P, Sun Y, Duby M, Moriondo A, Nguyen T, Smadbeck P, Alexander BR, Brandes M, Carmichael M, Dornbos P, Green T, Huellas-Bruskiewicz K, Ji Y, Kluge A, McMahon AC, Mercader JM, Ruebenacker O, Sengupta S, Spalding D, Taliun D, AMP-T2D Consortium, Smith P, Thomas MK, Akolkar B, Brosnan MJ, Cherkas A, Chu AY, Fauman EB, Fox CS, Kamphaus TN, Miller MR, Nguyen L, Parsa A, Reilly DF, Ruetten H, Wholley D, Zaghloul NA, Abecasis GR, Altshuler D, Keane TM, McCarthy MI, Gaulton KJ, Florez JC, Boehnke M, Burtt NP, Flannick J
Cell Metab, 2023 Apr 4;35(4):695-710.e6
2022
[4]-
Type 1 diabetes risk genes mediate pancreatic beta cell survival in response to proinflammatory cytokines
Benaglio P, Zhu H, Okino M, Yan J, Elgamal R, Nariai N, Beebe E, Korgaonkar K, Qiu Y, Donovan M, Chiou J, Wang G, Newsome J, Kaur J, Miller M, Preissl S, Corban S, Aylward A, Taipale J, Ren B, Frazer K, Sander M, Gaulton KJ
Cell Genomics, 2022
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Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Mahajan A, Spracklen CN, Zhang W, Ng M, Pettty LE, Kitajima H, Yu GZ, Rueger S, [...], Gaulton KJ, Meigs JB, Mohlke KL, Gloyn AL, Bowden DW, Below JE, Chambers JC, Sim X, Boehnke M, Rotter JI, McCarthy MI, Morris AP
Nat Genet, 2022
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Characterizing cis-regulatory elements using single-cell epigenomics
Preissl S, Gaulton KJ, Ren B
Nat Rev Genet, 2022
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High-throughput Genetic Clustering of Type 2 Diabetes Loci Reveals Heterogeneous Mechanistic Pathways of Metabolic Disease
Kim H, Westerman KE, Smith K, Chiou J, Cole JB, Majarian T, Grotthuss M, Mercader JM, Kwak SH, Kim J, Florez JC, Gaulton KJ, Manning AK, Udler MS
Diabetologia, 2022 Dec 20
2021
[10]-
A single-cell atlas of chromatin accessibility in the human genome
Zhang K, Hocker JD, Miller M, Hou X, Chiou J, Poirion OB, Qiu Y, Li YE, Gaulton KJ, Wang A, Preissl S, Ren B
Cell, 2021
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Mutations and variants of ONECUT1 in diabetes
Philippi A, Heller S, Costa IG, Senée V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze J, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C, Kleger A
Nat Med, 2021
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An atlas of gene regulatory elements in adult mouse cerebrum
Li Y, Preissl S, Hou X, Zhang Z, Zhang K, Qiu Y, Poirion OB, Li B, Chiou J, Liu H, Pinto-Duarte A, Kubo N, Yang X, Fang R, Wang X, Han JY, Lucero J, Yan Y, Miller M, Kuan S, Gorkin D, Gaulton KJ, Shen Y, Nunn M, Mukamel EA, Behrens MM, Ecker JR, Ren B
Nature, 2021
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Interpreting type 1 diabetes risk using genetics and single cell epigenomics
Chiou J, Geusz RJ, Okino M, Han JY, Miller M, Benaglio P, Huang S, Korgaonkar K, Heller S, Kleger A, Preissl S, Gorkin DU, Sander M, Gaulton KJ
Nature, 2021
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Systematic analysis of binding of transcription factors to noncoding variants
Yan J, Qiu Y, Ribeiro Dos Santos AM, Yin Y, Li YE, Vinckier N, Nariai N, Benaglio P, Raman A, Li X, Fan S, Chiou J, Chen F, Frazer KA, Gaulton KJ, Sander M, Taipale J, Ren B
Nature, 2021 Jan 27
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Single cell chromatin accessibility reveals pancreatic islet cell type- and state-specific regulatory programs of diabetes risk
Chiou J, Zeng C, Cheng Z, Han JY, Schlichting M, Huang S, Wang J, Sui Y, Deogaygay A, Okino M, Qiu Y, Sun Y, Kudtarkar P, Fang R, Preissl S, Sander M, Gorkin D, Gaulton KJ
Nature Genetics
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Cardiac Cell Type-Specific Gene Regulatory Programs and Disease Risk Association
Hocker JD, Poirion OB, Zhu F, Buchanan J, Zhang K, Chiou J, Wang T, Hou X, Li YE, Zhang Y, Farah EN, Wang A, McCulloch AD, Gaulton KJ, Ren B, Chi NC, Preissl S
Sci Adv, 2021
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Glucocorticoid signaling in pancreatic islets modulates gene regulatory programs and genetic risk of type 2 diabetes
Aylward A, Okino M, Benaglio P, Chiou J, Beebe E, Padilla J, Diep S, Gaulton KJ
Plos Genet, 2021
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Pancreatic progenitor epigenome maps prioritize type 2 diabetes risk genes with roles in development
Geusz RJ, Wang A, Chiou J, Lancman JJ, Wetton N, Kefalopoulou S, Wang J, Qiu Y, Yan J, Aylward A, Ren B, Dong P, Gaulton KJ, Sander M
eLife, 2021
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Integrated analyses of single-cell atlases reveal age, gender, and smoking status associations with cell type-specific expression of mediators of SARS-CoV-2 viral entry and highlights inflammatory programs in putative target cells
Muus C, Luecken MD, Eraslan G, Waghray A, Heimberg G, Sikkema L, Kobayashi Y, Vaishnav E, Subramanian A, Smilie C, Jagadeesh K, Duong E, Fiskin E, Triglia E, Ansari M, Cai P, Lin B, Buchanan J, Chen S, Shu J, Haber AL, Chung H, Montoro DT, Adams T, Aliee H, Samuel J, Andrusivova A, Angelidis I, Ashenberg O, Bassler K, Bécavin C, Benhar I, Bergenstråhle J, Bergenstråhle L, Bolt L, Braun E, Bui LT, Chaffin M, Chichelnitskiy E, Chiou J, Conlon TM, Cuoco MS, Deprez M, Fischer DS, Gillich A, Gould J, Guo M, Gutierrez AJ, Habermann AC, Harvey T, He P, Hou X, Hu L, Jaiswal A, Jiang P, Kapellos T, Kuo CS, Larsson L, Leney-Greene MA, Lim K, Litviňuková M, Lu J, Ludwig LS, Luo W, Maatz H, Madissoon E, Mamanova L, Manakongtreecheep K, Marquette C, Mbano I, McAdams A, Metzger RJ, Nabhan AN, Nyquist SK, Penland L, Poirion OB, Poli S, Qi C, Queen R, Reichart D, Rosas I, Schupp J, Sinha R, Sit RV, Slowikowski K, Slyper M, Smith N, Sountoulidis A, Strunz M, Sun D, Talavera-López C, Tan P, Tantivit J, Travaglini KJ, Tucker NR, Vernon K, Wadsworth MH, Waldman J, Wang X, Yan W, Zhao W, Ziegler C, The NHLBI LungMAP Consortium, The Human Cell Atlas Lung Biological Network
Nature Medicine, 2021
2020
[3]-
An atlas of dynamic chromatin landscapes in mouse fetal development
Gorkin DU, Barozzi I, Zhao Y, Zhang Y, Huang H, Lee A, Li B, Chiou J, Wildberg A, Ding B, Zhang B, Wang M, Strattan JS, Davidson JM, Qiu Y, Afzal V, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Garvin TH, Pham QT, Harrington AN, Mannion BJ, Lee EA, Fukuda-Yuzawa Y, He Y, Preissl S, Chee S, Han JY, Williams BA, Trout D, Amrhein H, Yang H, Cherry JM, Wang W, Gaulton KJ, Ecker JR, Shen Y, Dickel DE, Visel A, Pennacchio LA, Ren B
Nature, 2020 Jul;583(7818):744-751
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A dual mechanism of enhancer activation by FOXA pioneer factors induces endodermal organ fates
Geusz RJ, Wang A, Lam DK, Vinckier NK, Alysandratos K, Roberts DA, Wang J, Kefalopoulou S, Qiu Y, Chiou J, Gaulton KJ, Ren B, Kotton DN, Sander M
Nat Commun, 2021 Nov 15;12(1):6623
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Single Nucleus Multiomic Profiling Reveals Age-Dynamic Regulation of Host Genes Associated with SARS-CoV-2 Infection
Wang A, Chiou J, Poirion OB, Buchanan J, Valdez MJ, Verheyden JM, Hou X, Guo M, Newsome JM, Kudtarkar P, Faddah DA, Zhang K, Young RE, Barr J, Misra R, Huyck H, Rogers L, Poole C, Whitsett JA, Pryhuber G, Xu Y, Gaulton KJ, Preissl S, Sun X, NHLBI LungMap Consortium
eLife, 2020 Nov 9;9:e62522
2019
[7]-
Nutrient regulation of the islet epigenome controls adaptive insulin secretion
Wortham M, Liu F, Fleischman JY, Wallace M, Mulas F, Vinckier NK, Harrington AR, Cross BR, Chiou J, Patel NA, Sui Y, Jhala US, Shirihai OS, Huising MO, Gaulton KJ, Metallo CM, Sander M
J Clin Invest, 2023 Apr 3;133(7):e165208
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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
Warrington NM, Beaumont RN, Horikoshi M, Day FR, Helgeland Ø, Laurin C, Bacelis J, Peng S, Hao K, Feenstra B, [...], Gaulton KJ, [...], Freathy RM
Nat Genet, 2019 May;51(5):804-814
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Common DNA sequence variation influences 3-dimensional conformation of the human genome
Gorkin DU, Qiu Y, Hu M, Fletez-Brant K, Liu T, Schmitt AD, Noor A, Chiou J, Gaulton KJ, Sebat J, Li Y, Hansen KD, Ren B
Genome Biol, 2019 Dec 5;20(1):255
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The long noncoding RNA ROCKI regulates inflammatory gene expression
Zhang Q, Chao TC, Patil VS, Qin Y, Tiwari SK, Chiou J, Dobin A, Tsai CM, Li Z, Dang J, Gupta S, Urdahl K, Nizet V, Gingeras TR, Gaulton KJ, Rana TM
EMBO J, 2019 Mar 27
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Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data
Fernandez-Tajes J, Gaulton KJ, van de Bunt M, Torres J, Thurner M, Mahajan A, Gloyn AL, Lage K, McCarthy MI
Genome Med, 2019 Mar 26;11(1):19
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Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
Morris AP, Le TH, Wu H, Akbarov A, van der Most PJ, Hemani G, Smith GD, Mahajan A, Gaulton KJ, [...], Franceschini N
Nature Commun, 2019 Jan 3;10(1):29
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Pancreatic islet chromatin accessibility and conformation defines distal enhancer networks of type 2 diabetes risk
Greenwald WW, Chiou J, Yan J, Qiu Y, Dai N, Wang A, Nariai N, Aylward A, Han JY, Kadakia N, Barrufet N, Okino M, Drees F, Vinckier N, Minichiello L, Gorkin D, Avruch J, Frazer K, Sander M, Ren B, Gaulton KJ
Nat Commun, 2019 May 8;10(1):2078
2018
[4]-
Shared genetic contribution to type 1 and type 2 diabetes risk
Aylward A, Chiou J, Okino M, Kadakia N, Gaulton KJ
Hum Mol Genet, 2018 Nov 7
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Clustering of Type 2 Diabetes Genetic Loci by Multi-Trait Associations Identifies Disease Mechanisms and Subtypes
Udler M, Kim J, Grotthuss M, Bonas-Guarch S, Mercader JM, Cole JB, Chiou J, Anderson CD, Boehnke M, Laakso M, Atzmon G, Glaser B, Gaulton KJ, Flannick J, Getz G, Florez JC
PLoS Med, 2018 Sep 21
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Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci
Thurner M, van de Bunt M, Torres JM, Mahajan A, Nylander V, Bennett AJ, Gaulton KJ, Barrett A, Burrows C, Bell CG, Lowe R, Beck S, Rakyan VK, Gloyn AL, McCarthy MI
Elife, 2018 Feb 7;7:e31977
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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, [...], McCarthy MI
Sci Data, 2018 Jan 23;5:180002
2017
[9]-
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, [...], Gaulton KJ, [...], Scott RA
Nat Commun, 2017 Jul 12;8:16015
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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
Jun G, Manning A, Almeida M, Zawistowski M, Wood AR, Teslovich TM, Fuchsberger C, Feng S, Cingolani P, Gaulton KJ, [...], Blangero J
Proc Natl Acad Sci U S A, 2018 Jan 9;115(2):379-384
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Genome-wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos
Sofer T, Wong Q, Hartwig FP, Taylor K, Warren HR, Evangelou E, Cabrera CP, Levy D, Kramer H, Lange LA, Horta BL, COGENT-BP consortium, Kerr KF, Reiner AP, Franceschini N
Sci Rep, 2017 Sep 4;7(1):10348
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An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, [...], Prokopenko I, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Diabetes, 2017 Nov;66(11):2888-2902
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Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations
Liang J, Le TH, Edwards DRV, Tayo BO, Gaulton KJ, [...], Franceschini N
PLoS Genet, 2017 May 12;13(5):e1006728
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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, [...], Gaulton KJ, [...], Gloyn AL, Lindgren CM
Diabetes, 2017 Jul;66(7):2019-2032
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Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice
Carrat GR, Hu M, Nguyen-Tu MS, Chabosseau P, Gaulton KJ, van de Bunt M, Siddiq A, Falchi M, Thurner M, Canouil M, Pattou F, Leclerc I, Pullen TJ, Cane MC, Prabhala P, Greenwald W, Schulte A, Marchetti P, Ibberson M, MacDonald PE, Manning Fox JE, Gloyn AL, Froguel P, Solimena M, McCarthy MI, Rutter GA
Am J Hum Genet, 2017 Feb 2;100(2):238-256
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Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance
Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, [...], Scott RA
Nat Genet, 2017 Jan;49(1):17-26
2016
[5]-
Detection of human adaptation during the past 2000 years
Field Y, Boyle EA, Telis N, Gao Z, Gaulton KJ, Golan D, Yengo L, Rocheleau G, Froguel P, McCarthy MI, Pritchard JK
Science, 2016 Nov 11;354(6313):760-764
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Genome-wide associations for birth weight and correlations with adult disease
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, [...], Gaulton KJ, [...], McCarthy MI, Freathy RM
Nature, 2016 Oct 13;538(7624):248-252
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Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity
Mahajan A, Rodan AR, Le TH, Gaulton KJ, [...], Franceschini N
Am J Hum Genet, 2016 Sep 1;99(3):636-646
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The genetic architecture of type 2 diabetes
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, [...], McCarthy MI
Nature, 2016 Aug 4;536(7614):41-47
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Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin
Liu CT, Raghavan S, Maruthur N, Kabagambe EK, Hong J, Ng MC, Hivert MF, Lu Y, An P, Bentley AR, Drolet AM, Gaulton KJ, [...], Meigs JB
Am J Hum Genet, 2016 Jul 7;99(1):56-75
2015
[9]-
A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data
Kim YJ, Lee J, Kim BJ, T2D-Genes Consortium, Park T
BMC Genomics, 2015 Dec 29;16:1109
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Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol
Roman TS, Marvelle AF, Fogarty MP, Vadlamudi S, Gonzalez AJ, Buchkovich ML, Huyghe JR, Fuchsberger C, Jackson AU, Wu Y, Civelek M, Lusis AJ, Gaulton KJ, Sethupathy P, Kangas AJ, Soininen P, Ala-Korpela M, Kuusisto J, Collins FS, Laakso M, Boehnke M, Mohlke KL
Am J Hum Genet, 2015 Dec 3;97(6):801-15
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Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors
van de Bunt M, Manning Fox JE, Dai X, Barrett A, Grey C, Li L, Bennett AJ, Johnson PR, Rajotte RV, Gaulton KJ, Dermitzakis ET, MacDonald PE, McCarthy MI, Gloyn AL
PLoS Genet, 2015 Dec 1;11(12):e1005694
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Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, [...], McCarthy MI, Morris AP, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Nat Genet, 2015 Dec;47(12):1415-25
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Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation
Horikoshi M, Mägi R, van de Bunt M, Surakka I, Sarin AP, Mahajan A, [...], Gaulton KJ, [...], Morris AP, ENGAGE Consortium
PLoS Genet, 2015 Jul 1;11(7):e1005230
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The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease
Moutsianas L, Agarwala V, Fuchsberger C, Flannick J, Rivas MA, Gaulton KJ, Albers PK, GoT2D Consortium, McVean G, Boehnke M, Altshuler D, McCarthy MI
PLoS Genet, 2015 Apr 23;11(4):e1005165
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Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease-associated variant that regulates PPAP2B Expression through Altered C/EBP-beta binding
Reschen ME, Gaulton KJ, Lin D, Soilleux EJ, Morris AJ, Smyth SS, O'Callaghan CA
PLoS Genet, 2015 Apr 2;11(4):e1005061
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Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus
Mahajan A, Sim X, Ng HJ, Manning A, Rivas MA, Highland HM, [...], Gaulton KJ, [...], Gloyn AL, T2D-GENES consortium and GoT2D consortium
PLoS Genet, 2015 Jan 27;11(1):e1004876
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Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes
Wood AR, Tuke MA, Nalls M, Hernandez D, Gibbs JR, Lin H, Xu CS, Li Q, Shen J, Jun G, Almeida M, Tanaka T, Perry JR, Gaulton KJ, [...], Frayling TM
Hum Mol Genet, 2015 Mar 1;24(5):1504-12
2014
[8]-
Identification of a regulatory variant that binds FOXA1 and FOXA2 at the CDC123/CAMK1D type 2 diabetes GWAS locus
Fogarty MP, Cannon ME, Vadlamudi S, Gaulton KJ, Mohlke KL
PLoS Genet, 2014 Sep 11;10(9):e1004633
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Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, GoT2D Consortium, NHGRI JHS/FHS Allelic Spectrum Project, SIGMA T2D Consortium, T2D-GENES Consortium, Rosen ED, Altshuler D
Proc Natl Acad Sci U S A, 2014 Sep 9;111(36):13127-32
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The South Asian genome
Chambers JC, Abbott J, Zhang W, Turro E, Scott WR, Tan ST, Afzal U, Afaq S, Loh M, Lehne B, O'Reilly P, Gaulton KJ, [...], Kooner JS
PLoS One, 2014 Aug 12;9(8):e102645
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Choice of transcripts and software has a large effect on variant annotation
McCarthy DJ, Humburg P, Kanapin A, Rivas MA, Gaulton K, Cazier JB, Donnelly P
Genome Med, 2014 Mar 31;6(3):26
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Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland
Wang SR, Agarwala V, Flannick J, Chiang CW, Altshuler D, GoT2D Consortium, Hirschhorn JN
Am J Hum Genet, 2014 May 1;94(5):710-20
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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2 Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) Consortium, Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, [...], Morris AP
Nat Genet, 2014 Mar;46(3):234-44
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Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol
Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, [...], Gaulton K, [...], Willer CJ, NHLBI Grand Opportunity Exome Sequencing Project
Am J Hum Genet, 2014 Feb 6;94(2):233-45
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Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
Pasquali L, Gaulton KJ, Rodríguez-Seguí SA, Mularoni L, Miguel-Escalada I, Akerman İ, Tena JJ, Morán I, Gómez-Marín C, van de Bunt M, Ponsa-Cobas J, Castro N, Nammo T, Cebola I, García-Hurtado J, Maestro MA, Pattou F, Piemonti L, Berney T, Gloyn AL, Ravassard P, Skarmeta JLG, Müller F, McCarthy MI, Ferrer J
Nat Genet, 2014 Feb;46(2):136-143
2013
[2]-
Assessing association between protein truncating variants and quantitative traits
Rivas MA, Pirinen M, Neville MJ, Gaulton KJ, Moutsianas L, GoT2D Consortium, Lindgren CM, Karpe F, McCarthy MI, Donnelly P
Bioinformatics, 2013 Oct 1;29(19):2419-26
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The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis
van de Bunt M, Gaulton KJ, Parts L, Moran I, Johnson PR, Lindgren CM, Ferrer J, Gloyn AL, McCarthy MI
PLoS One, 2013;8(1):e55272
Pre-2013
[4]-
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults
Lange LA, Croteau-Chonka DC, Marvelle AF, Qin L, Gaulton KJ, Kuzawa CW, McDade TW, Wang Y, Li Y, Levy S, Borja JB, Lange EM, Adair LS, Mohlke KL
Hum Mol Genet, 2010 May 15;19(10):2050-8
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A map of open chromatin in human pancreatic islets
Gaulton KJ, Nammo T, Pasquali L, Simon JM, Giresi PG, Fogarty MP, Panhuis TM, Mieczkowski P, Secchi A, Bosco D, Berney T, Montanya E, Mohlke KL, Lieb JD, Ferrer J
Nat Genet, 2010 Mar;42(3):255-9
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Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes
Gaulton KJ, Willer CJ, Li Y, Scott LJ, Conneely KN, Jackson AU, Duren WL, Chines PS, Narisu N, Bonnycastle LL, Luo J, Tong M, Sprau AG, Pugh EW, Doheny KF, Valle TT, Abecasis GR, Tuomilehto J, Bergman RN, Collins FS, Boehnke M, Mohlke KL
Diabetes, 2008 Nov;57(11):3136-44
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A computational system to select candidate genes for complex human traits
Gaulton KJ, Mohlke KL, Vision TJ
Bioinformatics, 2007 May 1;23(9):1132-40