Publications | International Center for Genetic Disease at Harvard Medical School

Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL.

Authors :Carbonell E , Stenton SL , Ganesh VS , Ma J , VanNoy GE , Pais L , Gaitanis JN , O'Leary MC , Rehm HL , O'Donnell-Luria A

Published On :2025 Feb 20

Journal Article

Development and Validation of a Predictive Model for Anxiety Trajectories in Patients with Breast Cancer: A Retrospective Study.

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

Published On :2025

Journal Article

Active cell proliferation contributes to the enlargement of the nascent nucleus pulposus.

Authors :Long RG , Lee C , Tabin CJ

Published On :2025 Feb 20

Journal Article

[Retracted] Naringenin has a chemoprotective effect in MDA‑MB‑231 breast cancer cells via inhibition of caspase‑3 and ‑9 activities.

Authors :Wang R , Wang J , Dong T , Shen J , Gao X , Zhou J

Published On :2025 Apr

Journal Article

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study 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 banner authorship , UKB working group authorship , Chatzinakos C , Ganna A , Bigdeli TB , Daly MJ , Lynch JA , Ross J , Peterson RE , Hauger RL

Published On :2025 Feb 2

Journal Article

Patient Determinants and Effects on Adherence of Adverse Drug Reactions to Tuberculosis Treatment: A Prospective Cohort Analysis.

Authors :Tzelios CA , Malatesta S , Carney T , White LF , Weber SE , Thomson S , Theron D , Myers B , Parry CDH , Warren RM , Horsburgh CR , Farhat MR , Jacobson KR

Published On :2025 Feb 20

Journal Article

Genetic Mapping of Orofacial Traits Reveals a Single Genomic Region Associated With Differences in Multiple Parameters of Jaw Size Between Astyanax mexicanus Surface and Cavefish.

Authors :Powers AK , Amaismeier A , Thiel K , Anyonge W , McGaugh SE , Boggs TE , Tabin CJ , Gross JB

Published On :2025 Feb 20

Journal Article

Complete genome sequence of a virulent barcoded Mycobacterium tuberculosis str. Erdman commonly used for non-human primate infection studies.

Authors :Marin MG , Chase MR , Quinones N , Wakabayashi S , Mugahid D , Fortune SM , Farhat MR , Chao MC

Published On :2025 Feb 18

Journal Article

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.

Authors :Estela Rubio-Gozalbo M , Naomi Vos E , Rivera I , Lai K , Berry GT

Published On :2025 Mar

Journal Article Review

Comparison of face-to-face teaching and online teaching in neurosurgery education for medical students.

Authors :Shen J , Zhang S , Sun D , Ge R , Chen S , Fang J , An Q

Published On :2025 Feb 13

Journal Article

Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report.

Authors :Hill SY , Edenberg HJ , Corvin A , Thorgeirsson T , Below JE , Goldman D , Leal S , Almasy L , Cox NJ , Daly M , Neale B , Vrieze S , Zoghbi H

Published On :2025 Feb

Journal Article

The new definition of metabolic syndrome including hyperuricemia improves its prognostic value: results from NHANES database.

Authors :Zhang Z , Pang Y , Shen J , Chen W , Hao C , Lei Z

Published On :2025 Feb 11

Journal Article

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.

Authors :Chen Y , Lee K , Woo J , Kim DW , Keum C , Babbi G , Casadio R , Martelli PL , Savojardo C , Manfredi M , Shen Y , Sun Y , Katsonis P , Lichtarge O , Pejaver V , Seward DJ , Kamandula A , Bakolitsa C , Brenner SE , Radivojac P , O'Donnell-Luria A , Mooney SD , Jain S

Published On :2025 Feb 12

Journal Article

Global trends and epidemiological impact of metabolic risk factors on atrial fibrillation and atrial flutter from 1990 to 2021.

Authors :Liang J , Shen J , Guo Y , Rejiepu M , Ling X , Wang X , Jian Y , Zhang X , Shao S , Tang B , Zhang L

Published On :2025 Feb 7

Journal Article

Hybrid crosslinking cellulose nanofibers-reinforced zwitterionic poly (ionic liquid) organohydrogel with high-stretchable, anti-freezing, anti-drying as strain sensor application.

Authors :Fu D , Xing L , Xie Y , Li P , Yang F , Sui X , Liu J , Chi J , Huang B , Shen J

Published On :2025 Apr 1

Journal Article