Publications

YAP1 and WWTR1 expression inversely correlates with neuroendocrine markers in Merkel cell carcinoma.

Frost TC, Gartin AK, Liu M, et al. YAP1 and WWTR1 expression inversely correlates with neuroendocrine markers in Merkel cell carcinoma. The Journal of clinical investigation. 2023;133(5). doi:10.1172/JCI157171

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.

Dron JS, Patel AP, Zhang Y, et al. Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA cardiology. 2023;8(3):258-267. doi:10.1001/jamacardio.2022.5271

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

Serey-Gaut M, Cortes M, Makrythanasis P, et al. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. American journal of human genetics. 2023;110(3):499-515. doi:10.1016/j.ajhg.2023.01.006

Integrated molecular approaches for fermented food microbiome research.

Walsh AM, Leech J, Huttenhower C, et al. Integrated molecular approaches for fermented food microbiome research. FEMS microbiology reviews. 2023;47(2). doi:10.1093/femsre/fuad001

Mapping thalamic innervation to individual L2/3 pyramidal neurons and modeling their 'readout' of visual input.

Balcioglu A, Gillani R, Doron M, et al. Mapping thalamic innervation to individual L2/3 pyramidal neurons and modeling their ’readout’ of visual input. Nature neuroscience. 2023;26(3):470-480. doi:10.1038/s41593-022-01253-9

Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.

Lekstrom-Himes J, Brooks PJ, Koeberl DD, et al. Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies. American journal of medical genetics. Part C, Seminars in medical genetics. 2023;193(1):30-43. doi:10.1002/ajmg.c.32031

A whole-genome scan for Artemisinin cytotoxicity reveals a novel therapy for human brain tumors.

Taubenschmid-Stowers J, Orthofer M, Laemmerer A, et al. A whole-genome scan for Artemisinin cytotoxicity reveals a novel therapy for human brain tumors. EMBO molecular medicine. 2023;15(3):e16959. doi:10.15252/emmm.202216959

Systemic sclerosis gastrointestinal dysmotility: risk factors, pathophysiology, diagnosis and management.

McMahan ZH, Kulkarni S, Chen J, et al. Systemic sclerosis gastrointestinal dysmotility: risk factors, pathophysiology, diagnosis and management. Nature reviews. Rheumatology. 2023;19(3):166-181. doi:10.1038/s41584-022-00900-6

Genetic Risk Score Improves Risk Stratification for Anticoagulation-Related Intracerebral Hemorrhage.

Mayerhofer E, Parodi L, Prapiadou S, et al. Genetic Risk Score Improves Risk Stratification for Anticoagulation-Related Intracerebral Hemorrhage. Stroke. 2023;54(3):791-799. doi:10.1161/STROKEAHA.122.041764

Functional Characterization of Six (OATP1B1) Variants Observed in Finnish Individuals with a Psychotic Disorder.

Häkkinen K, Kiander W, Kidron H, et al. Functional Characterization of Six (OATP1B1) Variants Observed in Finnish Individuals with a Psychotic Disorder. Molecular pharmaceutics. 2023;20(3):1500-1508. doi:10.1021/acs.molpharmaceut.2c00715

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Publications

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