Publications | International Center for Genetic Disease at Harvard Medical School

Anifrolumab treatment of Singleton-Merten syndrome 2 due to a novel RIGI variant.

Authors :Hsu EE , LeSon CE , Lam MT , Okada S , Yue J , Rimland CA , Weng R , Zhou Q , Geva T , Roberts AE , Ilagan C , Carreon CK , Son MBF , Lee PY

Published On :2025 Dec

Letter

A generalist foundation model and database for open-world medical image segmentation.

Authors :Zhang S , Zhang Q , Zhang S , Liu X , Yue J , Lu M , Xu H , Yao J , Wei X , Cao J , Zhang X , Gao M , Shen J , Hao Y , Wang Y , Zhang X , Wu S , Zhang P , Cui S , Wang G

Published On :2025 Sep 5

Journal Article

The Mycobacterium tuberculosis complex pangenome is small and shaped by sub-lineage-specific regions of difference.

Authors :Behruznia M , Marin M , Whiley DJ , Farhat MR , Thomas JC , Domingo-Sananes MR , Meehan CJ

Published On :2025 Sep 5

Journal Article

Proteomic prediction of disease largely reflects environmental risk exposure.

Authors :Tsuo K , Argentieri MA , Gadd D , Kurki M , Zheng Z , Baird D , Marioni RE , Foley C , Huang H , Sun BB , Chen CY , Daly MJ , Martin AR

Published On :2025 Aug 29

Journal Article

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.

Authors :Mustafa HJ , Najjariasl P , Aghajani F , Sambatur EV , Rodenbarger A , Guseh S , Roberts AE , Shamshirsaz AA

Published On :2025 Sep 4

Journal Article Review

Progress in antisenescence biomaterials for improved osteoarthritis therapy.

Authors :Ge YS , Ding JY , Shen J , Meng TT , Huang CM , Li WY , Zhao MJ , Yin JL , Zhai YQ , Wang XZ , Xu JG , Cui W , Ding DF

Published On :2025 Oct 1

Journal Article Review

Unveiling causal regulatory mechanisms through cell-state parallax.

Authors :Wu AP , Singh R , Walsh CA , Berger B

Published On :2025 Aug 29

Journal Article

The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.

Authors :Naomi Vos E , Demirbas D , Rodan L , Yang E , Prabhu SP , Chen J , Huang X , Haynes RL , Lehtinen MK , Bennett MJ , He M , Pearl PL , Rubio-Gozalbo ME , Poduri A , Berry GT

Published On :2025 Aug 25

Journal Article

Reducing priority polycyclic aromatic hydrocarbons in coal tar pitch through alkylation: Mechanism and potential toxicity evaluation.

Authors :Zhang N , Liu LQ , Zhang Y , Shen J , Wang YG , Liu G , Niu YX

Published On :2025 Oct 5

Journal Article

Development and validation of a predictive model for disease-free progression in triple-negative breast cancer: A retrospective study using color Doppler ultrasound and magnetic resonance imaging.

Authors :Li F , Yan HH , Wei BK , Shen J

Published On :2025 Oct

Journal Article

Direct Ink Writing of Multifunctional Silica-Reinforced Zirconia Aerogels via Electrostatic Attraction-Assisted Co-Gelation.

Authors :Han D , Yang J , Lu J , Yang J , Qian X , Shen J , Wu G , Zhang Z , Zhou B , Du A

Published On :2025 Sep 9

Journal Article

Cluster analysis of family resilience in adolescents with emotional disorders: a cross-sectional study.

Authors :Shen J , Zhou S , Du M , Xia B , Jiang Y

Published On :2025 Aug 21

Journal Article

Evaluation of glymphatic system activity and lateralization by diffusion tensor imaging in Parkinson's disease with excessive daytime sleepiness.

Authors :Miao X , Li Z , Jia Y , Zhang Q , Shen J , Ji P , Wang J , Wang M

Published On :2025 Nov

Journal Article

Cerebral Infarction Following Unilateral Decompressive Craniectomy in Patients With Severe Traumatic Brain Injury: Incidence, Risk Factors, and Outcomes.

Authors :Shen J , An Q , Ge R , Xia D , Cheng H , Jiang X , Zhang S

Published On :2025 Aug 20

Journal Article

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank.

Authors :Davis SM , Liu A , Teerlink CC , Lapato DM , Gorman B , Genovese G , Singh M , Reeve MP , Gentry AE , Donner KM , Sipilä TP , Ghazal A , Pagadala MS , Panizzon MS , Lancaster EE , FinnGen , Chatzinakos C , Ganna A , Bigdeli TB , Daly MJ , Lynch JA , Ross J , Peterson RE , Hauger RL

Published On :2025 Sep 4

Journal Article