Publications | International Center for Genetic Disease at Harvard Medical School

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 Feb 12

Journal Article

Farm animal evolution demonstrates hidden molecular basis of human traits.

Authors :Connally NJ , Sunyaev S

Published On :2026 Feb 3

Journal Article Preprint

Geographic Variability in Germline Genetic Testing for Prostate Cancer: A Nationwide Medicare Claims Study With Evidence of Low Uptake.

Authors :Korn SM , Qian Z , Zurl H , Piccolini A , Pohl KK , Lipsitz SR , Zhang J , Kibel AS , Moore CM , Rana HQ , Kilbridge KL , Shariat SF , Giri VN , Loeb S , Trinh QD , Cole AP

Published On :2025 Dec

Journal Article

Hydrogen Bond Density over Energy Level Matching─A New Paradigm for Room-Temperature Phosphorescence in Doped Systems.

Authors :Wang M , Fu X , Zhang Y , Jiao X , Shen J , Zhang W , Li J

Published On :2026 Feb 26

Journal Article

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Authors :Lai A , Neil JE , Akula SK , Amrom D , Andermann E , Bergin A , Caraballo R , Chen AY , Gaitanis J , Mochida GH , Gotoff JM , Kuchukhidze G , Marom D , ElAchkar CM , Regev M , Rodan LH , Olson H , Zhang B , Poduri A , Shao DD , Walsh CA , Yang E

Published On :2026 May

Journal Article

[Retracted] MicroRNA-24-3p inhibition prevents cell growth of vascular smooth muscle cells by targeting Bcl-2-like protein 11.

Authors :Zhang H , Xue S , Feng Y , Shen J , Zhao J

Published On :2026 Mar

Journal Article Retraction Notice

Genomic Insights Into Inflammatory Bowel Disease in United States Hispanic Participants: An Ancestry-Focused Study.

Authors :Beecham AH , McGovern DPB , Brugger SW , Davis MF , Torres EA , Gomez L , Li D , Lopez-Marte P , Daly MJ , Stevens C , Yang S , Sinha S , Mengesha E , Leavitt J , Damas OM , Quintero MA , Targan SR , Rabizadeh S , Sabic K , NIDDK IBD Genetics Consortium , Cho JH , Abreu MT , McCauley JL , Haritunians T

Published On :2026 May

Journal Article

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.

Authors :Khoshkhoo S , Bae M , Wang Y , Tillett A , Ramirez RB , Finander B , Egan ED , Marx L , Patel D , Zhou Z , Chahine Y , Chhouk B , Zoullas SM , Lai A , Coras R , Bielle F , Navarro V , Mathon B , Valiante TA , Moradi Chameh H , Gao AF , Krings T , Gooley S , Hildebrand MS , Bulluss K , Clark J , Morokoff AP , King JA , Todaro M , Kwan P , O'Brien TJ , Berkovic SF , Scheffer IE , Perucca P , Lapinskas E , Rolston JD , Cosgrove GR , Sarkis RA , D'Gama AM , Alexadrescu S , Yang E , Poduri A , Richardson RM , Erson-Omay EZ , DeLanerolle N , Spencer DD , Brown KS , Miller MB , Roberts AE , Santos LN , Kontaridis MI , Bien CG , Blacklow SC , Kahle KT , Blümcke I , Huang AY , Lee EA , Walsh CA

Published On :2026 Jan 27

Journal Article Preprint

Spectral Representation of Neurochemicals With Phase, Frequency Offset, and Lineshape Invariance: Application to JPRESS for In Vivo Concentration and T(2) Mapping by Deep Learning.

Authors :Zhang Y , Shen J

Published On :2026 Jun

Journal Article

The Infant and Toddler Developmental Profile of Kleefstra Syndrome.

Authors :Yue SL , Pillai RLI , Frazier Z , Osika H , Quinn M , O'Toole J , Heslin B , Zhang B , Dies KA , Pais L , O'Donnell-Luria A , Horlbeck MA , Kossowsky J , Lipton J , Srivastava S

Published On :2026 Jun

Journal Article