Publications

Independent and interactive effects of viral species on risk for lower respiratory tract illnesses in early life.

medRxiv : the preprint server for health sciences
2025

Moore CM, Secor EA, Fairbanks-Mahnke A, Everman JL, Elhawary JR, Witonsky JI, Pruesse E, Chang CH, Contreras MG, Eng C, Canales K, Rosado T, Hu D, Huntsman S, Jackson ND, Li Y, Lopez N, Valentin AM, Medina V, Montanez-Lopez CA, Morin A, Nieves NA, Oh SS, Otero RA, Colon R, Rodriguez L, Sajuthi SP, Salazar S, Serrano G, Morales EV, Vazquez G, Morales NV, Williams BJM, Zhang P, Sheppard D, Rodriguez Santana JR, Seibold MA

Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele.

Nature communications
2025

Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier KR, Chittoor G, Josyula NS, Meyer M, Gupta S, Li X, Li Z, Allison MA, Becker DM, Bielak LF, Bis JC, Boorgula MP, Bowden DW, Broome JG, Buth EJ, Carlson CS, Chang KM, Chavan S, Chiu YF, Chuang LM, Conomos MP, DeMeo DL, Du M, Duggirala R, Eng C, Fohner AE, Freedman BI, Garrett ME, Guo X, Haiman C, Heavner BD, Hidalgo B, Hixson JE, Ho YL, Hobbs BD, Hu D, Hui Q, Hwu CM, Jackson RD, Jain D, Kalyani RR, Kardia SLR, Kelly TN, Lange EM, LeNoir M, Li C, Le Marchand L, McDonald MN, McHugh CP, Morrison AC, Naseri T, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, O'Connell J, O'Donnell CJ, Palmer ND, Pankow JS, Perry JA, Peters U, Preuss MH, Rao DC, Regan EA, Reupena SM, Roden DM, Rodriguez-Santana J, Sitlani CM, Smith JA, Tiwari HK, Vasan RS, Wang Z, Weeks DE, Wessel J, Wiggins KL, Wilkens LR, Wilson PWF, Yanek LR, Yoneda ZT, Zhao W, Zöllner S, Arnett DK, Ashley-Koch AE, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Carson AP, Chasman DI, Ida Chen YD, Curran JE, Fornage M, Gordeuk VR, He J, Heckbert SR, Hou L, Irvin MR, Kooperberg C, Minster RL, Mitchell BD, Nouraie M, Psaty BM, Raffield LM, Reiner AP, Rich SS, Rotter JI, Benjamin Shoemaker M, Smith NL, Taylor KD, Telen MJ, Weiss ST, Zhang Y, Heard-Costa N, Sun YV, Lin X, Cupples LA, Lange LA, Liu CT, Loos RJF, North KE, Justice AE

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

medRxiv : the preprint server for health sciences
2025

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 D, Saferali A, Smith JD, Taylor KD, Tracy RP, Wang J, Wang M, Weinstock JS, Weiss J, Wheeler HE, Zhou Y, Zoellner S, Wu JC, Mestroni L, Graw S, Taylor MRG, Ortega VE, Johnson CW, Gan W, Abecasis G, Nickerson DA, Gupta N, Ardlie K, Woodruff PG, Zheng Y, Bowler RP, Meyers DA, Reiner A, Kooperberg C, Ziv E, Ramachandran VS, Larson MG, Cupples LA, Burchard EG, Silverman EK, Rich SS, Heard-Costa N, Tang H, Rotter JI, Smith AV, Levy D, NHLBI TOPMed Consortium Multi-Omics Working Group, NHLBI TOPMed Consortium, Aguet F, Scott L, Raffield LM, Parker SCJ

Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium.

Genome medicine
2025

Neumann A, Sammallahti S, Cosin-Tomas M, Reese SE, Suderman M, Alemany S, Almqvist C, Andrusaityte S, Arshad SH, Bakermans-Kranenburg MJ, Beilin L, Breton C, Bustamante M, Czamara D, Dabelea D, Eng C, Eskenazi B, Fuemmeler BF, Gilliland FD, Grazuleviciene R, Håberg SE, Herberth G, Holland N, Hough A, Hu D, Huen K, Hüls A, Jarvelin MR, Jin J, Julvez J, Koletzko BV, Koppelman GH, Kull I, Lu X, Maitre L, Mason D, Melén E, Merid SK, Molloy PL, Mori TA, Mulder RH, Page CM, Richmond RC, Röder S, Ross JP, Schellhas L, Sebert S, Sheppard D, Snieder H, Starling AP, Stein DJ, Tindula G, van IJzendoorn MH, Vonk J, Walton E, Witonsky J, Xu CJ, Yang IV, Yousefi PD, Zar HJ, Zenclussen AC, Zhang H, Tiemeier H, London SJ, Felix JF, Cecil C

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Nature structural & molecular biology
2024

Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL, Global Parkinson’s Genetics Program (GP2), Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C

Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.

Nature communications
2024

Keener R, Chhetri SB, Connelly CJ, Taub MA, Conomos MP, Weinstock J, Ni B, Strober B, Aslibekyan S, Auer PL, Barwick L, Becker LC, Blangero J, Bleecker ER, Brody JA, Cade BE, Celedon JC, Chang YC, Cupples LA, Custer B, Freedman BI, Gladwin MT, Heckbert SR, Hou L, Irvin MR, Isasi CR, Johnsen JM, Kenny EE, Kooperberg C, Minster RL, Naseri T, Viali S, Nekhai S, Pankratz N, Peyser PA, Taylor KD, Telen MJ, Wu B, Yanek LR, Yang IV, Albert C, Arnett DK, Ashley-Koch AE, Barnes KC, Bis JC, Blackwell TW, Boerwinkle E, Burchard EG, Carson AP, Chen Z, Chen YI, Darbar D, de Andrade M, Ellinor PT, Fornage M, Gelb BD, Gilliland FD, He J, Islam T, Kaab S, Kardia SLR, Kelly S, Konkle BA, Kumar R, Loos RJF, Martinez FD, McGarvey ST, Meyers DA, Mitchell BD, Montgomery CG, North KE, Palmer ND, Peralta JM, Raby BA, Redline S, Rich SS, Roden D, Rotter JI, Ruczinski I, Schwartz D, Sciurba F, Shoemaker MB, Silverman EK, Sinner MF, Smith NL, Smith AV, Tiwari HK, Vasan RS, Weiss ST, Williams LK, Zhang Y, Ziv E, Raffield LM, Reiner AP, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group, Arvanitis M, Greider CW, Mathias RA, Battle A

Implications of Race Adjustment in Lung-Function Equations.

The New England journal of medicine
2024

Diao JA, He Y, Khazanchi R, Nguemeni Tiako MJ, Witonsky JI, Pierson E, Rajpurkar P, Elhawary JR, Melas-Kyriazi L, Yen A, Martin AR, Levy S, Patel CJ, Farhat M, Borrell LN, Cho MH, Silverman EK, Burchard EG, Manrai AK

Advancing genomics to improve health equity.

Nature genetics
2024

Madden EB, Hindorff LA, Bonham VL, Akintobi TH, Burchard EG, Baker KE, Begay RL, Carpten JD, Cox NJ, Di Francesco V, Dillard DA, Fletcher FE, Fullerton SM, Garrison NA, Hammack-Aviran CM, Hiratsuka VY, Hildreth JEK, Horowitz CR, Hughes Halbert CA, Inouye M, Jackson A, Landry LG, Kittles RA, Leek JT, Limdi NA, Lockhart NC, Ofili EO, Pérez-Stable EJ, Sabatello M, Saulsberry L, Schools LE, Troyer JL, Wilfond BS, Wojcik GL, Cho JH, Lee SS, Green ED

A common polymorphism in the Intelectin-1 gene influences mucus plugging in severe asthma.

Nature communications
2024

Everman JL, Sajuthi SP, Liegeois MA, Jackson ND, Collet EH, Peters MC, Chioccioli M, Moore CM, Patel BB, Dyjack N, Powell R, Rios C, Montgomery MT, Eng C, Elhawary JR, Mak ACY, Hu D, Huntsman S, Salazar S, Feriani L, Fairbanks-Mahnke A, Zinnen GL, Michel CR, Gomez J, Zhang X, Medina V, Chu HW, Cicuta P, Gordon ED, Zeitlin P, Ortega VE, Reisdorph N, Dunican EM, Tang M, Elicker BM, Henry TS, Bleecker ER, Castro M, Erzurum SC, Israel E, Levy BD, Mauger DT, Meyers DA, Sumino K, Gierada DS, Hastie AT, Moore WC, Denlinger LC, Jarjour NN, Schiebler ML, Wenzel SE, Woodruff PG, Rodriguez-Santana J, Pearson CG, Burchard EG, Fahy JV, Seibold MA

The Puerto Rican Infant Metagenomic and Epidemiologic Study of Respiratory Outcomes (PRIMERO): Design and Baseline Characteristics for a Birth Cohort Study of Early-life Viral Respiratory Illnesses and Airway Dysfunction in Puerto Rican Children.

medRxiv : the preprint server for health sciences
2024

Witonsky JI, Elhawary JR, Eng C, Oh SS, Salazar S, Contreras MG, Medina V, Secor EA, Zhang P, Everman JL, Fairbanks-Mahnke A, Pruesse E, Sajuthi SP, Chang CH, Guerrero TR, Fuentes KC, Lopez N, Montanez-Lopez CA, Otero RA, Rivera RC, Rodriguez L, Vazquez G, Hu D, Huntsman S, Jackson ND, Li Y, Morin A, Nieves NA, Rios C, Serrano G, Williams BJM, Ziv E, Moore CM, Sheppard D, Burchard EG, Seibold MA, Rodriguez Santana JR

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

medRxiv : the preprint server for health sciences
2024

Jerez PÁ, Wild Crea PA, Ramos DM, Gustavsson EK, Radefeldt M, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu C, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Global Parkinson’s Genetics Program (GP2), Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C

Race and Ethnicity in Pulmonary Function Test Interpretation: An Official American Thoracic Society Statement.

American journal of respiratory and critical care medicine
2023

Bhakta NR, Bime C, Kaminsky DA, McCormack MC, Thakur N, Stanojevic S, Baugh AD, Braun L, Lovinsky-Desir S, Adamson R, Witonsky J, Wise RA, Levy SD, Brown R, Forno E, Cohen RT, Johnson M, Balmes J, Mageto Y, Lee CT, Masekela R, Weiner DJ, Irvin CG, Swenson ER, Rosenfeld M, Schwartzstein RM, Agrawal A, Neptune E, Wisnivesky JP, Ortega VE, Burney P

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.

Nature communications
2023

Budu-Aggrey A, Kilanowski A, Sobczyk MK, 23andMe Research Team, Shringarpure SS, Mitchell R, Reis K, Reigo A, Estonian Biobank Research Team, Mägi R, Nelis M, Tanaka N, Brumpton BM, Thomas LF, Sole-Navais P, Flatley C, Espuela-Ortiz A, Herrera-Luis E, Lominchar JVT, Bork-Jensen J, Marenholz I, Arnau-Soler A, Jeong A, Fawcett KA, Baurecht H, Rodriguez E, Alves AC, Kumar A, Sleiman PM, Chang X, Medina-Gomez C, Hu C, Xu CJ, Qi C, El-Heis S, Titcombe P, Antoun E, Fadista J, Wang CA, Thiering E, Wu B, Kress S, Kothalawala DM, Kadalayil L, Duan J, Zhang H, Hadebe S, Hoffmann T, Jorgenson E, Choquet H, Risch N, Njølstad P, Andreassen OA, Johansson S, Almqvist C, Gong T, Ullemar V, Karlsson R, Magnusson PKE, Szwajda A, Burchard EG, Thyssen JP, Hansen T, Kårhus LL, Dantoft TM, Jeanrenaud ACSN, Ghauri A, Arnold A, Homuth G, Lau S, Nöthen MM, Hübner N, Imboden M, Visconti A, Falchi M, Bataille V, Hysi P, Ballardini N, Boomsma DI, Hottenga JJ, Müller-Nurasyid M, Ahluwalia TS, Stokholm J, Chawes B, Schoos AM, Esplugues A, Bustamante M, Raby B, Arshad S, German C, Esko T, Milani LA, Metspalu A, Terao C, Abuabara K, Løset M, Hveem K, Jacobsson B, Pino-Yanes M, Strachan DP, Grarup N, Linneberg A, Lee YA, Probst-Hensch N, Weidinger S, Jarvelin MR, Melén E, Hakonarson H, Irvine AD, Jarvis D, Nijsten T, Duijts L, Vonk JM, Koppelmann GH, Godfrey KM, Barton SJ, Feenstra B, Pennell CE, Sly PD, Holt PG, Williams LK, Bisgaard H, Bønnelykke K, Curtin J, Simpson A, Murray C, Schikowski T, Bunyavanich S, Weiss ST, Holloway JW, Min JL, Brown SJ, Standl M, Paternoster L

WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.

medRxiv : the preprint server for health sciences
2023

Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier K, Chittoor G, Josyula NS, Li X, Li Z, Allison MA, Becker DM, Bielak LF, Bis JC, Boorgula MP, Bowden DW, Broome JG, Buth EJ, Carlson CS, Chang KM, Chavan S, Chiu YF, Chuang LM, Conomos MP, DeMeo DL, Du M, Duggirala R, Eng C, Fohner AE, Freedman BI, Garrett ME, Guo X, Haiman C, Heavner BD, Hidalgo B, Hixson JE, Ho YL, Hobbs BD, Hu D, Hui Q, Hwu CM, Jackson RD, Jain D, Kalyani RR, Kardia SLR, Kelly TN, Lange EM, LeNoir M, Li C, Marchand LL, McDonald MN, McHugh CP, Morrison AC, Naseri T, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, O'Connell J, O'Donnell CJ, Palmer ND, Pankow JS, Perry JA, Peters U, Preuss MH, Rao DC, Regan EA, Reupena SM, Roden DM, Rodriguez-Santana J, Sitlani CM, Smith JA, Tiwari HK, Vasan RS, Wang Z, Weeks DE, Wessel J, Wiggins KL, Wilkens LR, Wilson PWF, Yanek LR, Yoneda ZT, Zhao W, Zöllner S, Arnett DK, Ashley-Koch AE, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Carson AP, Chasman DI, Chen YI, Curran JE, Fornage M, Gordeuk VR, He J, Heckbert SR, Hou L, Irvin MR, Kooperberg C, Minster RL, Mitchell BD, Nouraie M, Psaty BM, Raffield LM, Reiner AP, Rich SS, Rotter JI, Shoemaker MB, Smith NL, Taylor KD, Telen MJ, Weiss ST, Zhang Y, Heard-Costa N, Sun YV, Lin X, Adrienne Cupples L, Lange LA, Liu CT, Loos RJF, North KE, Justice AE

Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes.

American journal of human genetics
2022

Nieves-Colón MA, Badillo Rivera KM, Sandoval K, Villanueva Dávalos V, Enriquez Lencinas LE, Mendoza-Revilla J, Adhikari K, González-Buenfil R, Chen JW, Zhang ET, Sockell A, Ortiz-Tello P, Hurtado GM, Condori Salas R, Cebrecos R, Manzaneda Choque JC, Manzaneda Choque FP, Yábar Pilco GP, Rawls E, Eng C, Huntsman S, Burchard E, Ruiz-Linares A, González-José R, Bedoya G, Rothhammer F, Bortolini MC, Poletti G, Gallo C, Bustamante CD, Baker JC, Gignoux CR, Wojcik GL, Moreno-Estrada A

Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth.

Thorax
2022

Herrera-Luis E, Mak ACY, Perez-Garcia J, Martin-Gonzalez E, Eng C, Beckman KB, Huntsman S, Hu D, González-Pérez R, Hernández-Pérez JM, Mederos-Luis E, Sio YY, Poza-Guedes P, Sardón O, Corcuera P, Sánchez-Machín I, Korta-Murua J, Martínez-Rivera C, Mullol J, Muñoz X, Valero A, Sastre J, Garcia-Aymerich J, Llop S, Torrent M, Casas M, Rodríguez-Santana JR, Villar J, Del Pozo V, Lorenzo-Diaz F, Williams LK, Melén E, Chew FT, Borrell LN, Burchard EG, Pino-Yanes M

Association of bronchial steroid inducible methylation quantitative trait loci with asthma and chronic obstructive pulmonary disease treatment response.

Clinical and translational allergy
2022

Slob EMA, Faiz A, van Nijnatten J, Vijverberg SJH, Longo C, Kutlu M, Chew FT, Sio YY, Herrera-Luis E, Espuela-Ortiz A, Perez-Garcia J, Pino-Yanes M, Burchard EG, Potocnik U, Gorenjak M, Palmer C, Maroteau C, Turner S, Verhamme K, Karimi L, Mukhopadhyay S, Timens W, Hiemstra PS, Pijnenburg MW, Neighbors M, Grimbaldeston MA, Tew GW, Brandsma CA, Berce V, Aliee H, Theis F, Sin DD, Li X, van den Berge M, Maitland-van der Zee AH, Koppelman GH

Multi-ancestry genome-wide association study of asthma exacerbations.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2022

Herrera-Luis E, Ortega VE, Ampleford EJ, Sio YY, Granell R, de Roos E, Terzikhan N, Vergara EE, Hernandez-Pacheco N, Perez-Garcia J, Martin-Gonzalez E, Lorenzo-Diaz F, Hashimoto S, Brinkman P, U-BIOPRED Study Group, Jorgensen AL, Yan Q, Forno E, Vijverberg SJ, Lethem R, Espuela-Ortiz A, Gorenjak M, Eng C, González-Pérez R, Hernández-Pérez JM, Poza-Guedes P, Sardón O, Corcuera P, Hawkins GA, Marsico A, Bahmer T, Rabe KF, Hansen G, Kopp MV, Rios R, Cruz MJ, González-Barcala FJ, Olaguibel JM, Plaza V, Quirce S, Canino G, Cloutier M, Del Pozo V, Rodriguez-Santana JR, Korta-Murua J, Villar J, Potocnik U, Figueiredo C, Kabesch M, Mukhopadhyay S, Pirmohamed M, Hawcutt DB, Melén E, Palmer CN, Turner S, Maitland-van der Zee AH, von Mutius E, Celedón JC, Brusselle G, Chew FT, Bleecker E, Meyers D, Burchard EG, Pino-Yanes M

Pharmacogenetic studies of long-acting beta agonist and inhaled corticosteroid responsiveness in randomised controlled trials of individuals of African descent with asthma.

The Lancet. Child & adolescent health
2021

Ortega VE, Daya M, Szefler SJ, Bleecker ER, Chinchilli VM, Phipatanakul W, Mauger D, Martinez FD, Herrera-Luis E, Pino-Yanes M, Hawkins GA, Ampleford EJ, Kunselman SJ, Cox C, Bacharier LB, Cabana MD, Cardet JC, Castro M, Denlinger LC, Eng C, Fitzpatrick AM, Holguin F, Hu D, Jackson DJ, Jarjour N, Kraft M, Krishnan JA, Lazarus SC, Lemanske RF, Lima JJ, Lugogo N, Mak A, Moore WC, Naureckas ET, Peters SP, Pongracic JA, Sajuthi SP, Seibold MA, Smith LJ, Solway J, Sorkness CA, Wenzel S, White SR, Burchard EG, Barnes K, Meyers DA, Israel E, Wechsler ME, NHLBI AsthmaNet

Paths and timings of the peopling of Polynesia inferred from genomic networks.

Nature
2021

Ioannidis AG, Blanco-Portillo J, Sandoval K, Hagelberg E, Barberena-Jonas C, Hill AVS, Rodríguez-Rodríguez JE, Fox K, Robson K, Haoa-Cardinali S, Quinto-Cortés CD, Miquel-Poblete JF, Auckland K, Parks T, Sofro ASM, Ávila-Arcos MC, Sockell A, Homburger JR, Eng C, Huntsman S, Burchard EG, Gignoux CR, Verdugo RA, Moraga M, Bustamante CD, Mentzer AJ, Moreno-Estrada A

Population sequencing data reveal a compendium of mutational processes in the human germ line.

Science (New York, N.Y.)
2021

Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S

ADRB2 haplotypes and asthma exacerbations in children and young adults: An individual participant data meta-analysis.

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology
2021

Karimi L, Vijverberg SJ, Engelkes M, Hernandez-Pacheco N, Farzan N, Soares P, Pino-Yanes M, Jorgensen AL, Eng C, Mukhopadhyay S, Schieck M, Kabesch M, Burchard EG, Chew FT, Sio YY, Potocnik U, Gorenjak M, Hawcutt DB, Palmer CN, Turner S, Janssens HM, Maitland-van der Zee AH, Verhamme KMC, PiCA and SysPharmPedia consortia