Publications | International Center for Genetic Disease at Harvard Medical School

Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null.

Authors :Simpson K , MacLeod EL , Clayton J , Yazigi NA , Rubio-Gozalbo ME , Fridovich-Keil JL , Berry GT , Ah Mew N

Published On :2025 May

Journal Article

Oxygen-Rich Graphene Quantum Dots Enable Detection of Pr³⁺, Ho³⁺, and Er³⁺ Via Spectral Overlap Engineering.

Authors :Luo D , Yu W , Wang X , Tao M , Gao X , Zhang L , Mo Z , Shen J

Published On :2025 May 10

Journal Article

DNA-PAINT Imaging with Hydrogel Imprinting and Clearing.

Authors :Stein J , Magni L , Church GM

Published On :2025 May 23

Letter

Pitfalls of bacterial pan-genome analysis approaches: a case study of Mycobacterium tuberculosis and two less clonal bacterial species.

Authors :Marin MG , Quinones-Olvera N , Wippel C , Behruznia M , Jeffrey BM , Harris M , Mann BC , Rosenthal A , Jacobson KR , Warren RM , Li H , Meehan CJ , Farhat MR

Published On :2025 May 6

Journal Article

Replacement as an aging intervention.

Authors :Lore S , Poganik JR , Atala A , Church G , Gladyshev VN , Scheibye-Knudsen M , Verdin E

Published On :2025 May

Journal Article Review

FH Tumor Predisposition Syndrome.

Authors :Adam MP , Feldman J , Mirzaa GM , Pagon RA , Wallace SE , Amemiya A , Kamihara J , Schultz KA , Rana HQ

Published On :1993

Review

Efficacy of botulinum neurotoxin-A in the treatment of neuropsychiatric symptoms in patients with Parkinson's disease: an open-label randomized controlled study.

Authors :Zhu X , Yang X , Wei M , Wang H , Shen J , Han Q

Published On :2025 Jun

Journal Article Randomized Controlled Trial

L-shaped association between serum klotho and prefrailty in physical frailty phenotype among adults in US: result from 2007 to 2016 National Health and Nutrition Examination Survey.

Authors :Xu M , Nie Z , Shen J , Xiao L , Hu X

Published On :2025 May 6

Journal Article

Consensus Report of the 20th European Workshop on Periodontology: Contemporary and Emerging Technologies in Periodontal Diagnosis.

Authors :Herrera D , Tonetti MS , Chapple I , Kebschull M , Papapanou PN , Sculean A , Abusleme L , Aimetti M , Belibasakis G , Blanco J , Bostanci N , Bouchard P , Buduneli N , Calciolari E , Carra MC , Chackartchi T , Dannewitz B , Danser M , Deng K , Derks J , Dietrich T , Discepoli N , Divaris K , Dommisch H , Donos N , Dutzan N , Eickholz P , Eren Kuru B , Faria Almeida R , Farina R , Feher B , Figuero E , Giannobile W , Gosset M , Graziani F , Gursoy UK , Hagenfeld D , Jepsen K , Jepsen S , Kumar P , Laine ML , Lambert F , Lang NP , Li Y , Loos B , Madianos P , Matesanz P , Mealey B , Molina A , Montero E , Nibali L , Preshaw P , Rakic M , Ramseier C , Salvi G , Sánchez N , Sanz-Sánchez I , Shapira L , Stavropoulos A , Tamimi F , Teughels W , Tomasi C , Trombelli L , Vassilopoulos S , Verket A , West N , Windisch P , Sanz M

Published On :2025 Aug

Journal Article Consensus Development Conference

Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma.

Authors :Rämö JT , Gorman BR , Weng LC , Jurgens SJ , Singhanetr P , Tieger MG , van Dijk EH , Halladay CW , Wang X , Hauser BM , Kim SH , Brinks J , Choi SH , Luo Y , FinnGen , VA Million Veteran Program , Pyarajan S , Nealon CL , Gorin MB , Wu WC , Anthony SA , Roncone DP , Sobrin L , Kaarniranta K , Yzer S , Palotie A , Peachey NS , Turunen JA , Boon CJ , Ellinor PT , Iyengar SK , Daly MJ , Rossin EJ

Published On :2025 May 3

Journal Article Meta-Analysis

A Novel Empirical Autoinduction Model to Characterize the Population Pharmacokinetics and Recommend Dose for Repotrectinib in Adult and Adolescents With Advanced Solid Tumors Harboring ALK, ROS1, or NTRK1-3 Rearrangements.

Authors :Du S , Hu Z , Shen J , Hamuro L , Lam J , Lu M , Zhu L , Roy A , Kondic A

Published On :2025 Jul

Journal Article

Regulatable C-X-C chemokine receptor type 4 in iPSC-derived NK cells improves bone marrow chemotaxis and targeting resident tumor.

Authors :He X , Wang L , Zeng W , Wang Y , Chen N , Yang P , Ti A , Zhang Q , Shao Y , Wang M , Huang Z , Zhang X , Xu M , Liang L , Wang X , Ding X , Zhu T , Zhang P , Pan Z , Yang F , Zhou Y , Mo G , Hu J , Yue Y , Hu J , Deng Y , Ho T , Church GM , Hu Y , Huang H , Yang L

Published On :2025 Jul

Journal Article

Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity.

Authors :Heng TH , Walter K , Huang QQ , Karjalainen J , Daly MJ , Heyne HO , FinnGen , Malawsky DS , Kalantzis G , Genes & Health Research Team , Finer S , van Heel DA , Martin HC

Published On :2025 Jun 5

Journal Article

A call for built-in biosecurity safeguards for generative AI tools.

Authors :Wang M , Zhang Z , Bedi AS , Velasquez A , Guerra S , Lin-Gibson S , Cong L , Qu Y , Chakraborty S , Blewett M , Ma J , Xing E , Church G

Published On :2025 Jun

Letter

A Nomogram Prediction Model for Clinical Outcome of Trauma-induced Coagulopathy Patients with Severe Multiple Trauma.

Authors :Shen J , Xu F

Published On :2025 Jan-Mar

Journal Article