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Publications

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Jeffries L, Mis EK, McWalter K, et al. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in medicine : official journal of the American College of Medical Genetics. 2023;26(2):101023. doi:10.1016/j.gim.2023.101023

Safe and Scalable Syntheses of ,-Dimethyltrifluoromethanesulfonamide (DMTMSA) and Other Trifluoromethanesulfonamide Solvents for High Energy Density Battery Applications.

Kilgallon LJ, Shao-Horn Y, Johnson JA. Safe and Scalable Syntheses of ,-Dimethyltrifluoromethanesulfonamide (DMTMSA) and Other Trifluoromethanesulfonamide Solvents for High Energy Density Battery Applications. The Journal of organic chemistry. 2023;88(23):16644-16648. doi:10.1021/acs.joc.3c01745

Regulatory mechanisms of one-carbon metabolism enzymes.

Petrova B, Maynard AG, Wang P, Kanarek N. Regulatory mechanisms of one-carbon metabolism enzymes. The Journal of biological chemistry. 2023;299(12):105457. doi:10.1016/j.jbc.2023.105457

Natural Language Processing for Adjudication of Heart Failure in a Multicenter Clinical Trial: A Secondary Analysis of a Randomized Clinical Trial.

Cunningham JW, Singh P, Reeder C, et al. Natural Language Processing for Adjudication of Heart Failure in a Multicenter Clinical Trial: A Secondary Analysis of a Randomized Clinical Trial. JAMA cardiology. 2023. doi:10.1001/jamacardio.2023.4859

Clonal haematopoiesis of indeterminate potential predicts incident cardiac arrhythmias.

Schuermans A, Vlasschaert C, Nauffal V, et al. Clonal haematopoiesis of indeterminate potential predicts incident cardiac arrhythmias. European heart journal. 2023. doi:10.1093/eurheartj/ehad670

Osteosarcoma Explorer: A Data Commons With Clinical, Genomic, Protein, and Tissue Imaging Data for Osteosarcoma Research.

Yang DM, Zhou Q, Furman-Cline L, et al. Osteosarcoma Explorer: A Data Commons With Clinical, Genomic, Protein, and Tissue Imaging Data for Osteosarcoma Research. JCO clinical cancer informatics. 2023;7:e2300104. doi:10.1200/CCI.23.00104

SARS-CoV-2 Virologic Rebound With Nirmatrelvir-Ritonavir Therapy : An Observational Study.

Edelstein GE, Boucau J, Uddin R, et al. SARS-CoV-2 Virologic Rebound With Nirmatrelvir-Ritonavir Therapy : An Observational Study. Annals of internal medicine. 2023;176(12):1577-1585. doi:10.7326/M23-1756

Selection of genetic instruments in Mendelian randomisation studies of sleep traits.

Paz V, Dashti HS, Burgess S, Garfield V. Selection of genetic instruments in Mendelian randomisation studies of sleep traits. Sleep medicine. 2023;112:342-351. doi:10.1016/j.sleep.2023.10.036

Global, Regional, and National Burden of Spine Pain, 1990-2019: A Systematic Analysis of the Global Burden of Disease Study 2019.

Shim GY, Choi J, Kim HJ, et al. Global, Regional, and National Burden of Spine Pain, 1990-2019: A Systematic Analysis of the Global Burden of Disease Study 2019. Archives of physical medicine and rehabilitation. 2023. doi:10.1016/j.apmr.2023.10.019

Correlations in sleeping patterns and circadian preference between spouses.

Richmond RC, Howe LJ, Heilbron K, et al. Correlations in sleeping patterns and circadian preference between spouses. Communications biology. 2023;6(1):1156. doi:10.1038/s42003-023-05521-7