Publications | International Center for Genetic Disease at Harvard Medical School

Quality Indicators in Otolaryngology-Head and Neck Surgery: A Scoping Review.

Authors :Staibano P , Samargandy S , Cottrell J , Wang L , Au M , Gupta MK , Zhang H , Sommer DD , Walsh C , Monteiro E

Published On :2025 Jan-Dec

Journal Article

Development and psychometric validation of a patient-reported outcome measure scale for Crohn's disease anorectal stricture.

Authors :Li JR , Yang BL , Zhu ZX , Gong YX , Wang H , Gu YF , Zhang D , Xu MM , Jiang F , Kong J , Wang XP , Xu S , Wang C , Du P , Shen J , Mao R , Ke J , Tian F , Zhu WM , Zhu P

Published On :2025 Apr 24

Journal Article

The diagnostic performance and reader agreement of the Prostate Imaging for Recurrence Reporting system in the evaluation of local recurrence in patients with biochemically recurrent prostate cancer.

Authors :Liu X , Yang S , Deng W , Li D , Shen J

Published On :2025 Apr 23

Journal Article

Ni(OH)x/Ni-Catalyzed In-Situ Hydrogenation and Ethanol Ethoxylation of 2-Methylfuran for Renewable Biofuel Co-Upgrading.

Authors :Shen J , Liang C , Zhang Y , Zhang X , Li H , Li Y , Xie S , Zhang ZC

Published On :2025 Apr 22

Journal Article

Low allele frequency variants identified on germline multi-gene panel testing for cancer predisposition can suggest the presence of constitutional mosaicism.

Authors :Rodriguez-Hernandez A , Polfus LM , Bychkovsky BL , Souders B , Prat A , Adamo B , Garber JE , Horton C , Rana HQ

Published On :2025 Apr 21

Journal Article

The impact of information technology applications on the quality of life of disabled older adults in nursing homes in China: a qualitative study.

Authors :Zhang H , Liao X , Liang S , Tong L , Shen J , Peng B , Wu L , Gao L , Jia Q , Ren L , Luo L , Wang Y , Zhang X

Published On :2025

Journal Article

A diverse single-stranded DNA-annealing protein library enables efficient genome editing across bacterial phyla.

Authors :Filsinger GT , Mychack A , Lyerly E , Henriksen C , Bartlett TM , Kuchwara H , Eitzinger S , Bernhardt TG , Walker S , Church GM , Wannier TM

Published On :2025 Apr 29

Journal Article

A Systematic Literature Review on Pre-exposure Prophylaxis as a Strategy for HIV Risk Reduction in the Middle East.

Authors :Chaponda M , AlHammadi AA , Alsaeed A , Ali B , Al Salman J , Alosaimi RS

Published On :2025 Mar

Journal Article Review

Machine learning-assisted prediction of clinical responses to periodontal treatment.

Authors :Feher B , de Souza Oliveira EH , Mendes Duarte P , Werdich AA , Giannobile WV , Feres M

Published On :2025 Apr 20

Journal Article

Association between plausible genetic factors and weight loss from GLP1-RA and bariatric surgery.

Authors :German J , Cordioli M , Tozzo V , Urbut S , Arumäe K , Smit RAJ , Lee J , Li JH , Janucik A , Ding Y , Akinkuolie A , Heyne HO , Eoli A , Saad C , Al-Sarraj Y , Abdel-Latif R , Mohammed S , Hail MA , Barry A , Wang Z , Cajuso T , Corbetta A , Natarajan P , Ripatti S , Philippakis A , Szczerbinski L , Pasaniuc B , Kutalik Z , Mbarek H , Loos RJF , Vainik U , Ganna A

Published On :2025 Apr 18

Journal Article

CR1 variants contribute to FSGS susceptibility across multiple populations.

Authors :Skitchenko R , Modrusan Z , Loboda A , Kopp JB , Winkler CA , Sergushichev A , Gupta N , Stevens C , Daly MJ , Shaw A , Artomov M

Published On :2025 Apr 18

Journal Article

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Authors :Stenton SL , Laricchia K , Lake NJ , Chaluvadi S , Ganesh V , DiTroia S , Osei-Owusu I , Pais L , O'Heir E , Austin-Tse C , O'Leary M , Shanap MA , Barrows C , Berger S , Bönnemann CG , Bujakowska KM , Campagna DR , Compton AG , Donkervoort S , Fleming MD , Gallacher L , Gleeson JG , Haliloglu G , Pierce EA , Place EM , Sankaran VG , Shimamura A , Stark Z , Tan TY , Thorburn DR , White SM , Zaki MS , Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium , Vilain E , Lek M , Rehm HL , O'Donnell-Luria A

Published On :2025 Apr 15

Journal Article

Ferromagnetic Eu(2)SiO(4) Compound with a Record Low-Field Magnetocaloric Effect and Excellent Thermal Conductivity Near Liquid Helium Temperature.

Authors :Mo Z , Jiang J , Tian L , Xie H , Li Y , Zheng X , Zhang L , Gao X , Li Z , Liu G , Li L , Shen J

Published On :2025 Apr 16

Journal Article

Human-chimpanzee tetraploid system defines mechanisms of species-specific neural gene regulation.

Authors :Song JHT , Carter AC , Bushinsky EM , Beck SG , Petrocelli JE , Koreman GT , Babu J , Kingsley DM , Greenberg ME , Walsh CA

Published On :2025 Mar 31

Journal Article

FOS binding sites are a hub for the evolution of activity-dependent gene regulatory programs in human neurons.

Authors :Carter AC , Koreman GT , Petrocelli JE , Robb JE , Bushinsky EM , Trowbridge SK , Kingsley DM , Walsh CA , Song JHT , Greenberg ME

Published On :2025 Mar 31

Journal Article