~ /gaultonlab/publications $

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Interpreting non-coding disease-associated variants using single-cell epigenomics

Gaulton KJ, Preissl S, Ren B

Nat Rev Genet, 2023 May 9
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
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
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
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
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
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
Characterizing cis-regulatory elements using single-cell epigenomics

Preissl S, Gaulton KJ, Ren B

Nat Rev Genet, 2022
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Mechanisms of Type 2 Diabetes Risk Loci

Gaulton KJ

Curr Diab Rep, 2017 Sep;17(9):72
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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