Publications | International Center for Genetic Disease at Harvard Medical School

Tuberculosis Disease Severity Assessment Using Clinical Variables and Radiology Enabled by Artificial Intelligence.

Authors :Ghanem M , Srivastava R , Ektefaie Y , Hoppes D , Rosenfeld G , Yaniv Z , Grinev A , Xu AY , Yang E , Velásquez GE , Harrison L , Rosenthal A , Savic RM , Jacobson KR , Farhat MR

Published On :2026 Apr 16

Journal Article

Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.

Authors :Zhou Z , Kim J , Huang AY , Nolan M , Park J , Doan R , Shin T , Miller MB , Bae M , Zhao B , Kim J , Chhouk B , Morillo K , Yeh RC , Kenny C , Neil JE , Lee CZ , Ohkubo T , Ravits J , Ansorge O , Ostrow LW , Lagier-Tourenne C , Lee EA , Walsh CA

Published On :2026 May

Journal Article

Human induced pluripotent stem cell-derived chimeric antigen receptor-macrophages eradicate IL-13Rα2-positive solid tumors.

Authors :Yang Y , Wang L , Zhang Y , Lyu S , Ruan Q , Wang C , Dou F , Liang G , Yan G , Wang M , Fan H , Qi H , Kong W , Guo H , Liu Q , Wang W , Mao M , Huang Y , Zhou X , Duan J , Song W , Huang B , Cheng Y , Zhou L , Xu S , Shen J , Ping YF , Bian XW , He Z , Shi Y

Published On :2026 Jul

Journal Article

Lymphatic pumping technique in mice alters blood parameters and metastatic melanoma in an age-dependent manner.

Authors :Walsh C , Kirstein M , Wagner E , Scott E , Walsh J , Reddy S , Hoggard N , Ahmad A , Basu R , Mathes S , Qian Y , Kopchick JJ

Published On :2026

Journal Article

Axial Hysteretic Mechanical Characteristics of Wire Rope Isolators and Parameter Identification with a Novel Algebraic Closed-Form Model.

Authors :Mei G , He Y , Dai M , Zhou L , Yao X , Shen J , Li C

Published On :2026 Apr 5

Journal Article

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

MVGFormer: Multi-view perspective with graph-guided transformer for cryo-ET segmentation.

Authors :Li H , Li X , Wang H , Shi J , Chen H , Zhao Y , Du B , Barthelemy J , Kihara D , Shen J , Xu M

Published On :2026 Jan 3

Journal Article

Gene conversion is a key driver of diversity hotspots in M. tuberculosis antigens and virulence-associated loci.

Authors :Marin MG , Quinones-Olvera N , Jin H , Harris MA , Jeffrey BM , Rosenthal A , Murphy KC , Sassetti C , Li H , Farhat MR

Published On :2026 Mar 11

Journal Article Preprint

Mobile health application reduces dialysis catheter service time for patients with newly created arteriovenous fistulas.

Authors :Chen L , Hu Y , Zhang Y , Liu F , Fu Q , Shen J

Published On :2026

Journal Article

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Authors :Rius R , Blakes AJM , Chen Y , De Jonghe J , Lecoquierre F , Dawes R , Cogne B , Kim HC , Alvi JR , Amblard F , Ansari M , Arlt A , Austin-Tse C , Baer S , Balasubramanian M , Balton EV , Barcia G , Beleza-Meireles A , Bernstein JA , Beygo J , Blanc P , Bramswig NC , Braun F , Buchzik D , Calame DG , Campbell J , Coutton C , Cunningham CA , Dargie N , Depienne C , Dipple KM , Dieux A , Dixit A , Dreyer L , Du H , El Chehadeh S , Field M , Ewans LJ , Geiger V , Gibbs RA , Glass I , Grunewald O , Gueguen P , Haack TB , Hadj Abdallah H , Harbuz R , Helbig I , Horvath J , Hustinx A , Isidor B , Jacquemont ML , Jamie F , Jeanne M , Kessler R , Klinkhammer H , Korenke GC , Kotzaeridou U , Krawitz P , Laurie S , Leventer RJ , Levy RJ , Lupski JR , Marijon P , McGinnis KE , Mendez R , Messaoud O , Nava C , Nizard M , O'Donnell-Luria A , O'Leary MC , Olivieri S , Parida A , Pehlivan D , Prentice AJ , Posey JE , Reuter CM , Satre V , Schluth-Bolard C , Smol T , Sultan T , Taylor J , Thauvin-Robinet C , Thevenon J , Uebergang E , Ueberberg S , Vincent-Delorme C , Wassmer E , Westwood E , Wheeler MT , Gulec EY , Vanderver A , Vossough A , Sanders SJ , Banka S , Findlay GM , MacArthur DG , Simons C , Whiffin N

Published On :2026 Apr

Journal Article

A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation.

Authors :Ng BG , Zhang W , Neil JE , Danish M , Marafi D , Kamal TM , Bastaki L , Al Saffar M , Yang E , He M , Walsh CA , Mochida GH , Freeze HH

Published On :2026 Jul 9

Journal Article Case Reports

Histone Deacetylase 4: The Epigenetic Hub in Degenerative Musculoskeletal Diseases.

Authors :Huang J , Wang Z , Du G , Zhang Z , Zhang M , Feng Y , Tan Y , Zhao H , Zhang S , Xiong Y , Wang X , Shen J , Zhan H

Published On :2026 Mar 27

Journal Article

Futuristic global cell and gene therapy regulations based on a review of today's leading frameworks.

Authors :Hashmi SK , Jamil MA , de la Fuente J , Mahlangu J , Ozelo MC , Walters MC , Almannaei A , Srivastava A , Alzahrani H , Lu P , Kenet G , Nomura K , Leboulch P

Published On :2026 Jun

Journal Article Review

Integrating Ultrasound and Clinicopathologic Characteristics to Predict the Invasive Papillary Thyroid Carcinoma Among Indeterminate Thyroid Nodules.

Authors :Yao M , Zhang Z , Hua Z , Chen Y , Zhao S , Sun Y , Shen J , Zhang X

Published On :2026

Journal Article

Integrating 730,947 exome sequences with clinical literature improves gene discovery.

Authors :Guez J , Goodrich JK , Moldovan MA , Chao KR , Kar P , Panchal R , Wilson MW , Laricchia KM , Rohlicek G , Biba D , Marten D , He Q , Darnowsky PW , Grant R , Weisburd B , Baxter SM , Nadeau J , Lu W , Jahl S , Parsa S , Lamane A , DiTroia S , Fu J , Zhao X , Alarmani E , Tolonen C , Novod S , Bryant S , Stevens C , Chapman SB , Cusick C , Vittal C , Gauthier LD , Goldstein JI , Goldstein D , King D , Poterba T , Tiao G , gnomAD Project Consortium , Tranchero M , Lotter W , MacArthur DG , Brand H , Seplyarskiy V , Koch E , Talkowski ME , Solomonson M , Neale BM , O'Donnell-Luria A , Finucane HK , Sunyaev SR , Daly MJ , Rehm HL , Samocha KE , Karczewski KJ

Published On :2026 Mar 25

Journal Article Preprint