Publications | International Center for Genetic Disease at Harvard Medical School

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Authors :Reeve MP , Kanai M , Graham DB , Karjalainen J , Luo S , Kolosov N , Adams C , Ritari J , Karczewski KJ , Kiiskinen T , Jiang Y , Fuller Z , Mehtonen J , Kurki MI , Khan Z , FinnGen , Partanen J , McCarthy MI , Artomov M , Palotie A , Tuomi T , Pirinen M , Kero J , Xavier RJ , Daly MJ , Ripatti S

Published On :2026 Mar

Journal Article Meta-Analysis

Correction: Targeting lactate metabolism to restore immune homeostasis: a precision therapeutic paradigm for rheumatoid arthritis.

Authors :Zheng L , A X , Ma S , Xu B , Xiang Z , Cao B , Shen J , Xu X , Cheng Y , Ran L , Shi Q , Bian Y , Xiao L

Published On :2026

Published Erratum

The usage divide of digital health technology in age-friendly home modifications: an ethnographic study among older adults in rural China.

Authors :Zhang H , Liang S , Wu L , Wang Y , Luo L , Peng B , Xiong X , Chen L , Jia Q , Dai T , Jia Y , Xiao LD , Ren L , Zhang X , Shen J

Published On :2026

Journal Article

FOXC1 -Related Morning Glory-Like Papillopathy and Cerebral Vasculopathy.

Authors :Yao AY , Gonzalez Monroy JE , Jaimes C , Roberts AE , Bernson Leung ME , Gaier ED

Published On :2026 Jun 1

Journal Article

Consensus Report of Group 1 of the 1st Global Consensus for Clinical Guidelines for the Rehabilitation of the Edentulous Maxilla: Number of Implants, Timing of Implant Placement and Loading.

Authors :Donos N , Ng E , Pannuti CM , Romito GA , Francisco HCO , Abou-Ayash S , Avila-Ortiz G , Carames JMM , Casentini P , Chackartchi T , Chappuis V , Chen S , Fugazzotto P , Giannobile WV , Hagiwara Y , Hamilton A , Ivanovski S , Kahn S , Kan J , Lambert F , Levine RA , Navarro JM , Ornekol T , Payer M , Schoenbaum T , Singh MK , Thacker S , Alcoforado G

Published On :2026 Feb

Journal Article Consensus Statement

Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes.

Authors :Sato G , Yamamoto Y , Sonehara K , Saiki R , Ojima T , Kanai M , Liu A , Edahiro R , Shirai Y , Namba S , Namkoong H , Hasaegawa T , Koyanagi YN , Kasugai Y , Yamaji T , Nakano S , Genovese G , Sipilä TP , Ghazal A , Tanaka H , Azekawa S , Uwamino Y , Yamamoto K , Suzuki K , Hata T , Uemura M , Takeda Y , Kanai A , Higashiue S , Kobayashi S , Afuso H , Matsuura K , Mitsumoto Y , Fujita Y , FinnGen , Japan COVID-19 Task Force , Biobank Japan Project , Oda Y , Suzuki Y , Morisaki T , Ishii M , Kitagawa Y , Koike R , Kimura A , Imoto S , Miyano S , Kanai T , Takayama J , Iwasaki M , Sawada N , Fukunaga K , Matsuo K , Kumanogoh A , Doki Y , Eguchi H , Nakagome S , Tamiya G , Ganna A , Palotie A , Daly MJ , Wilson JF , Yamamoto M , Matsuda K , Ogawa S , Yamauchi T , Kadowaki T , Okada Y

Published On :2026 Mar

Journal Article

Artificial Intelligence-Enabled ECG Analysis to Predict Incident Heart Failure.

Authors :Khurshid S , Friedman SF , Kany S , D'Souza V , Roshandelpoor A , Kosyakovsky LB , Chitsazan M , Cunningham JW , Singh P , Lau ES , Pipilas D , Al-Alusi MA , Rämö JT , Pirruccello JP , Reeder C , Waks JW , Lubitz SA , Philippakis AA , Maddah M , Ellinor PT , Ho JE

Published On :2026 Apr

Journal Article Validation Study

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study.

Authors :Hollander S , Valli B , Vucko E , Lah M , Sanchez-Valle A , Murray BM , Kritzer A , Sacharow S

Published On :2026 Mar

Journal Article

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Authors :Rockowitz S , Shao W , French C , Truong TK , Hagen J , McGonigle R , Geltzeiler A , Sheidley B , Smith L , D'Gama AM , Irons M , Chou J , Stoler J , Kritzer A , Rodan L , Shimamura A , Bodamer O , Sacharow S , Soul JS , Srivastava S , Kennedy AR , Abu-El-Haija A , Lai A , Olson H , Juusola J , Ryan E , Friedman B , Singh A , Li C , Mallik R , Strickland G , Prinzing G , Mo A , O'Donnell-Luria A , Bolton J , Boone PM , Brucker W , Duyzend M , Mahida S , Miller DT , Omorodion J , Petit J , Picker J , Poduri A , Carlston C , Wojcik MH , Sliz P , Chung WK

Published On :2026 Apr 9

Journal Article

GLP-1 receptor agonists: Bridging diabetes, obesity, and periodontitis-A scoping review of emerging evidence.

Authors :Polymeri A , Feres M , Giannobile WV , Loos BG

Published On :2026 Jun

Journal Article Scoping Review

Expanding Risk-adapted Early Detection of Prostate Cancer: A Call to Action for Men at High Risk.

Authors :Klett MK , Albers P , Kibel A , Lakes J , Rana HQ , Serzan M , Karger A , Morgans AK

Published On :2026 Jun

Journal Article

Correction: Integrative multi-omics analyses identify PKD1 and SLC2A4 as genetically supported glycolysis-related candidate genes for rheumatoid arthritis.

Authors :A X , Xin P , Zheng L , Xu B , Wang J , Sun S , Xie J , Gao C , Pan P , Qiu G , Jin L , Shen J , Xu X , Cheng Y , Pei S , Ran L , Bian Y , Xiao L

Published On :2026

Published Erratum

Integrative multi-omics analyses identify PKD1 and SLC2A4 as genetically supported glycolysis-related candidate genes for rheumatoid arthritis.

Authors :A X , Xin P , Zheng L , Xu B , Wang J , Sun S , Xie J , Gao C , Pan P , Qiu G , Jin L , Shen J , Xu X , Cheng Y , Pei S , Ran L , Bian Y , Xiao L

Published On :2025

Journal Article

Missense variants in TUBA4A cause myo-tubulinopathies.

Authors :Johari M , Folland C , Saito Y , Oud MM , Parmar JM , Töpf A , Kurbatov S , Ampleeva M , Zakharova EY , Chekmareva IA , Shirokova KS , Atiakshin D , van Beek R , Gardeitchik T , Kamsteeg EJ , Medici E , Donker Kaat L , Nemoto J , Komaki H , Okabe T , Kimoto Y , Tokito T , Nakanowatari M , Oya Y , Bruels CC , Stafki SA , Estrella EA , Littel HR , Kunkel LM , Kang PB , Osei-Owusu I , Pais L , O'Leary M , Austin-Tse C , O'Donnell-Luria A , Mangilog B , Genetti CA , Valivullah ZM , Radio FC , D'Amico A , Ciolfi A , Tartaglia M , Perrin A , Van Goethem C , Sole G , Martin-Négrier ML , Cossée M , Milic Rasic V , Kovacevic G , Kosac A , Moreno CAM , Gontijo Camelo C , Zanoteli E , Habib C , Fahey MC , Beggs AH , Poulsen NS , Vissing J , Straub V , Savarese M , Tasca G , Voermans NC , Laing NG , Udd B , Nishino I , Ravenscroft G

Published On :2026 Oct 5

Journal Article Multicenter Study

Farm animal evolution demonstrates hidden molecular basis of human traits.

Authors :Connally NJ , Sunyaev S

Published On :2026 Feb 3

Journal Article Preprint