Publications

DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.

Wang AS, Lemire G, VanNoy GE, Austin-Tse C, O’Donnell-Luria A, Kilbane C. DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. Journal of pediatric neurology : JPN. 2023;21(6):475-478. doi:10.1055/s-0043-1771352

Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration.

Seddon JM, De D, Casazza W, et al. Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration. Frontiers in genetics. 2023;14:1274743. doi:10.3389/fgene.2023.1274743

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.

Lee AS, Ayers LJ, Kosicki M, et al. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.12.22.23300468

Activation of Coq6p, a FAD Monooxygenase Involved in Coenzyme Q Biosynthesis, by Adrenodoxin Reductase/Ferredoxin.

Gonzalez L, Vo SCDT, Faivre B, et al. Activation of Coq6p, a FAD Monooxygenase Involved in Coenzyme Q Biosynthesis, by Adrenodoxin Reductase/Ferredoxin. Chembiochem : a European journal of chemical biology. 2023:e202300738. doi:10.1002/cbic.202300738

Association between altered tryptophan metabolism, plasma aryl hydrocarbon receptor agonists, and inflammatory Chagas disease.

Ambrosio LF, Volpini X, Quiroz JN, et al. Association between altered tryptophan metabolism, plasma aryl hydrocarbon receptor agonists, and inflammatory Chagas disease. Frontiers in immunology. 2023;14:1267641. doi:10.3389/fimmu.2023.1267641

Aryl-diazonium salts offer a rapid and cost-efficient method to functionalize plastic microfluidic devices for increased immunoaffinity capture.

Rabe DC, Ho U, Choudhury A, et al. Aryl-diazonium salts offer a rapid and cost-efficient method to functionalize plastic microfluidic devices for increased immunoaffinity capture. Advanced materials technologies. 2023;8(16). doi:10.1002/admt.202300210

Vaginal fatty acid response mechanisms reveal a novel strategy for bacterial vaginosis treatment.

Zhu M, Frank MW, Radka CD, et al. Vaginal fatty acid response mechanisms reveal a novel strategy for bacterial vaginosis treatment. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.12.30.573720

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. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.12.22.23300448

The accuracy of polygenic score models for anthropometric traits and Type II Diabetes in the Native Hawaiian Population.

Lo YC, Chan TF, Jeon S, et al. The accuracy of polygenic score models for anthropometric traits and Type II Diabetes in the Native Hawaiian Population. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.12.25.23300499

A spectrum of altered non-rapid eye movement sleep in schizophrenia.

Kozhemiako N, Jiang C, Sun Y, et al. A spectrum of altered non-rapid eye movement sleep in schizophrenia. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.12.28.573548

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Publications

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