Publications

Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk.

Jiang X, Zhang MJ, Zhang Y, et al. Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk. Nature genetics. 2023. doi:10.1038/s41588-023-01522-8

Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington's disease.

Wilton DK, Mastro K, Heller MD, et al. Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington’s disease. Nature medicine. 2023. doi:10.1038/s41591-023-02566-3

Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis.

Greenberg ABW, Mehta NH, Mekbib KY, et al. Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis. Cerebral cortex (New York, N.Y. : 1991). 2023. doi:10.1093/cercor/bhad374

Precision medicine of obesity as an integral part of type 2 diabetes management - past, present, and future.

Szczerbiński L, Florez JC. Precision medicine of obesity as an integral part of type 2 diabetes management - past, present, and future. The lancet. Diabetes & endocrinology. 2023. doi:10.1016/S2213-8587(23)00232-2

Precision medicine for cardiometabolic disease: a framework for clinical translation.

Franks PW, Cefalu WT, Dennis J, et al. Precision medicine for cardiometabolic disease: a framework for clinical translation. The lancet. Diabetes & endocrinology. 2023. doi:10.1016/S2213-8587(23)00165-1

Immunosuppression causes dynamic changes in expression QTLs in psoriatic skin.

Xiao Q, Mears J, Nathan A, et al. Immunosuppression causes dynamic changes in expression QTLs in psoriatic skin. Nature communications. 2023;14(1):6268. doi:10.1038/s41467-023-41984-2

Human genetics and molecular genomics of Chiari malformation type 1.

Mekbib KY, Muñoz W, Allington G, et al. Human genetics and molecular genomics of Chiari malformation type 1. Trends in molecular medicine. 2023. doi:10.1016/j.molmed.2023.08.013

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.

Wang Y, Selvaraj MS, Li X, et al. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. American journal of human genetics. 2023;110(10):1704-1717. doi:10.1016/j.ajhg.2023.09.003

Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.

Shi X, Lu C, Corman A, et al. Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction. American journal of human genetics. 2023;110(10):1750-1768. doi:10.1016/j.ajhg.2023.09.004

TIM-3 blockade in diffuse intrinsic pontine glioma models promotes tumor regression and antitumor immune memory.

Ausejo-Mauleon I, Labiano S, de la Nava D, et al. TIM-3 blockade in diffuse intrinsic pontine glioma models promotes tumor regression and antitumor immune memory. Cancer cell. 2023. doi:10.1016/j.ccell.2023.09.001