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Publications

Base Editor Correction of COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Patient-Derived Fibroblasts and iPSCs.

Osborn MJ, Newby GA, McElroy AN, et al. Base Editor Correction of COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Patient-Derived Fibroblasts and iPSCs. J Invest Dermatol. 2020;140(2):338-347.e5. doi:10.1016/j.jid.2019.07.701

Classifying Melanoma by TERT Promoter Mutational Status.

Shaughnessy M, Njauw CN, Artomov M, Tsao H. Classifying Melanoma by TERT Promoter Mutational Status. J Invest Dermatol. 2020;140(2):390-394.e1. doi:10.1016/j.jid.2019.06.149

RICOPILI: Rapid Imputation for COnsortias PIpeLIne.

Lam M, Awasthi S, Watson HJ, et al. RICOPILI: Rapid Imputation for COnsortias PIpeLIne. Bioinformatics. 2020;36(3):930-933. doi:10.1093/bioinformatics/btz633

GABAergic Abnormalities Associated with Sensorimotor Cortico-striatal Community Structural Deficits in ErbB4 Knockout Mice and First-Episode Treatment-Naïve Patients with Schizophrenia.

Zhang C, Ni P, Liu Y, et al. GABAergic Abnormalities Associated with Sensorimotor Cortico-striatal Community Structural Deficits in ErbB4 Knockout Mice and First-Episode Treatment-Naïve Patients with Schizophrenia. Neurosci Bull. 2020;36(2):97-109. doi:10.1007/s12264-019-00416-2

Preventive Management of Nonobstructive CAD After Coronary CT Angiography in the Emergency Department.

Honigberg MC, Lander BS, Baliyan V, et al. Preventive Management of Nonobstructive CAD After Coronary CT Angiography in the Emergency Department. JACC Cardiovasc Imaging. 2020;13(2 Pt 1):437-448. doi:10.1016/j.jcmg.2019.04.021

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

Õunap K, Muru K, Õiglane-Shlik E, et al. PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet. 2020;63(2):103660. doi:10.1016/j.ejmg.2019.04.017

Meta-analysis of 16 studies of the association of alcohol with colorectal cancer.

McNabb S, Harrison TA, Albanes D, et al. Meta-analysis of 16 studies of the association of alcohol with colorectal cancer. Int J Cancer. 2020;146(3):861-873. doi:10.1002/ijc.32377

Colorectal cancer susceptibility variants and risk of conventional adenomas and serrated polyps: results from three cohort studies.

Hang D, Joshi AD, He X, et al. Colorectal cancer susceptibility variants and risk of conventional adenomas and serrated polyps: results from three cohort studies. Int J Epidemiol. 2020;49(1):259-269. doi:10.1093/ije/dyz096

Using life history calendars to improve measurement of lifetime experience with mental disorders.

Axinn WG, Chardoul S, Gatny H, et al. Using life history calendars to improve measurement of lifetime experience with mental disorders. Psychol Med. 2020;50(3):515-522. doi:10.1017/S0033291719000394

Early TP53 alterations engage environmental exposures to promote gastric premalignancy in an integrative mouse model.

Sethi NS, Kikuchi O, Duronio GN, et al. Early TP53 alterations engage environmental exposures to promote gastric premalignancy in an integrative mouse model. Nat Genet. 2020;52(2):219-230. doi:10.1038/s41588-019-0574-9