Publications | International Center for Genetic Disease at Harvard Medical School

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Authors :Tshering KC , DiStefano MT , Oza AM , Ajuyah P , Webb R , Edoh E , Broeren E , Ratliff J , Gitau V , Paris K , Aburyyan A , Alexander J , Albano V , Bai D , Booth KTA , Buonfiglio PI , Charfeddine C , Dalamón V , Castillo ID , Moreno-Pelayo MA , Duzkale H , Dorshorst B , Faridi R , Kenna M , Lewis MA , Luo M , Lu Y , Mkaouar R , Matsunaga T , Nara K , Pandya A , Redfield S , Roux I , Schimmenti LA , Schrauwen I , Shaaban S , Shen J , Vona B , Smith RJ , Rehm HL , Azaiez H , Abou Tayoun AN , Amr SS , ClinGen Hearing Loss Clinical Domain Working Group

Published On :2025 Oct

Published Erratum

Simultaneous in vivo detection of spectrally resolved glutamate, glutamine, and glutathione at 3 T with NAA-aspartyl editing and echo-time optimization.

Authors :An L , Hong S , Turon T , Pavletic AJ , Johnson CS , Shen J

Published On :2026 Feb

Journal Article Research Support, N.I.H., Extramural

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 , Sleeper LA , Carreon CK , Sanders SP , Quiat D , Singh MN , Ghelani SJ , Lacro RV

Published On :2025 Winter

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 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 :2026 May

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 Preprint

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 :2026 May

Journal Article Systematic Review Meta-Analysis

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

Published On :2025 Sep

Journal Article