Publications | International Center for Genetic Disease at Harvard Medical School

Mitral annular disjunction distance is associated with adverse outcomes in children and young adults with connective tissue disorders.

Authors :Castellanos DA , Barfuss SB , DiBiasio-Hudson N , Lee G , DeWitt E , O'Leary ET MD , Sleeper LA , Carreon CK , Sanders SP , Quiat D , Singh MN , Ghelani SJ , Lacro RV

Published On :2025 Sep 6

Journal Article

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 Sep 5

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 Aug 31

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