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Publications

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande NT, Riggs ER, Buchanan AH, et al. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 2017;100(6):895-906. doi:10.1016/j.ajhg.2017.04.015

Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice.

Shi Q, Chowdhury S, Ma R, et al. Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. Sci Transl Med. 2017;9(392). doi:10.1126/scitranslmed.aaf6295

Metabolomic profiling in a Hedgehog Interacting Protein (Hhip) murine model of chronic obstructive pulmonary disease.

Wan ES, Li Y, Lao T, et al. Metabolomic profiling in a Hedgehog Interacting Protein (Hhip) murine model of chronic obstructive pulmonary disease. Sci Rep. 2017;7(1):2504. doi:10.1038/s41598-017-02701-4

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Sintas C, Carreño O, Fernàndez-Castillo N, et al. Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. Sci Rep. 2017;7(1):2514. doi:10.1038/s41598-017-02554-x

Synergistic interactions with PI3K inhibition that induce apoptosis.

Zwang Y, Jonas O, Chen C, et al. Synergistic interactions with PI3K inhibition that induce apoptosis. Elife. 2017;6. doi:10.7554/eLife.24523

Involvement of a gut-retina axis in protection against dietary glycemia-induced age-related macular degeneration.

Rowan S, Jiang S, Korem T, et al. Involvement of a gut-retina axis in protection against dietary glycemia-induced age-related macular degeneration. Proc Natl Acad Sci U S A. 2017;114(22):E4472-E4481. doi:10.1073/pnas.1702302114

OCD candidate gene /EAAT3 impacts basal ganglia-mediated activity and stereotypic behavior.

Zike ID, Chohan MO, Kopelman JM, et al. OCD candidate gene /EAAT3 impacts basal ganglia-mediated activity and stereotypic behavior. Proc Natl Acad Sci U S A. 2017;114(22):5719-5724. doi:10.1073/pnas.1701736114

Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis.

Tobe BTD, Crain AM, Winquist AM, et al. Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis. Proc Natl Acad Sci U S A. 2017;114(22):E4462-E4471. doi:10.1073/pnas.1700111114

Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting.

Natarajan P, Young R, Stitziel NO, et al. Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting. Circulation. 2017;135(22):2091-2101. doi:10.1161/CIRCULATIONAHA.116.024436

High-throughput validation of ceRNA regulatory networks.

Chiu HS, Martínez MR, Bansal M, et al. High-throughput validation of ceRNA regulatory networks. BMC Genomics. 2017;18(1):418. doi:10.1186/s12864-017-3790-7