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Publications

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

Watanabe A, Neves PDM de M, Nunes K, et al. Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population. Kidney international reports. 2024;9(12):3501-3516. doi:10.1016/j.ekir.2024.09.005

ERBB2/HOXB13 co-amplification with interstitial loss of BRCA1 defines a unique subset of breast cancers.

Mitsiades IR, Onozato M, Iafrate J, et al. ERBB2/HOXB13 co-amplification with interstitial loss of BRCA1 defines a unique subset of breast cancers. Breast cancer research : BCR. 2024;26(1):185. doi:10.1186/s13058-024-01943-1

Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts.

Katrinli S, Wani AH, Maihofer AX, et al. Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts. Genome medicine. 2024;16(1):147. doi:10.1186/s13073-024-01417-1

Red tape strangles viral surveillance programs.

Ozonoff A, Ngono AE, Frederick R. Red tape strangles viral surveillance programs. Science (New York, N.Y.). 2024;386(6728):1357. doi:10.1126/science.ads3461

The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.

Negm L, Chung J, Nobre L, et al. The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study. The Lancet. Oncology. 2024. doi:10.1016/S1470-2045(24)00640-5

Evaluation of imputation performance of multiple reference panels in a Pakistani population.

Xu J, Liu D, Hassan A, et al. Evaluation of imputation performance of multiple reference panels in a Pakistani population. HGG advances. 2024:100395. doi:10.1016/j.xhgg.2024.100395

Type 2 diabetes genetic risk and incident diabetes across diabetes risk enhancers.

Moura FA, Kamanu FK, Wiviott SD, et al. Type 2 diabetes genetic risk and incident diabetes across diabetes risk enhancers. Diabetes, obesity & metabolism. 2024. doi:10.1111/dom.16123

An epidemiological modeling investigation of the long-term changing dynamics of the plague epidemics in Hong Kong.

Musa SS, Zhao S, Mkandawire W, Colubri A, He D. An epidemiological modeling investigation of the long-term changing dynamics of the plague epidemics in Hong Kong. Mathematical biosciences and engineering : MBE. 2024;21(10):7435-7453. doi:10.3934/mbe.2024327

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Hart RK, Fokkema IFAC, DiStefano M, et al. HGVS Nomenclature 2024: improvements to community engagement, usability, and computability. Genome medicine. 2024;16(1):149. doi:10.1186/s13073-024-01421-5

Dendritic cell effector mechanisms and tumor immune microenvironment infiltration define TLR8 modulation and PD-1 blockade.

Ruiz-Torres DA, Wise JF, Zhao BY, et al. Dendritic cell effector mechanisms and tumor immune microenvironment infiltration define TLR8 modulation and PD-1 blockade. Frontiers in immunology. 2024;15:1440530. doi:10.3389/fimmu.2024.1440530