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Publications

Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer.

Archambault AN, Su YR, Jeon J, et al. Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer. Gastroenterology. 2020;158(5):1274-1286.e12. doi:10.1053/j.gastro.2019.12.012

Design and application of single-cell RNA sequencing to study kidney immune cells in lupus nephritis.

Rao DA, Arazi A, Wofsy D, Diamond B. Design and application of single-cell RNA sequencing to study kidney immune cells in lupus nephritis. Nat Rev Nephrol. 2020;16(4):238-250. doi:10.1038/s41581-019-0232-6

Identification of 102 Correlations between Serum Metabolites and Habitual Diet in a Metabolomics Study of the Prostate, Lung, Colorectal, and Ovarian Cancer Trial.

Mazzilli KM, McClain KM, Lipworth L, et al. Identification of 102 Correlations between Serum Metabolites and Habitual Diet in a Metabolomics Study of the Prostate, Lung, Colorectal, and Ovarian Cancer Trial. J Nutr. 2020;150(4):694-703. doi:10.1093/jn/nxz300

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Nassar AH, Alaiwi SA, AlDubayan SH, et al. Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med. 2020;22(4):709-718. doi:10.1038/s41436-019-0720-x

Immunology-Guided Biomaterial Design for Mucosal Cancer Vaccines.

Ferber S, Gonzalez RJ, Cryer AM, von Andrian UH, Artzi N. Immunology-Guided Biomaterial Design for Mucosal Cancer Vaccines. Adv Mater. 2020;32(13):e1903847. doi:10.1002/adma.201903847

Lean and deep models for more accurate filtering of SNP and INDEL variant calls.

Friedman S, Gauthier L, Farjoun Y, Banks E. Lean and deep models for more accurate filtering of SNP and INDEL variant calls. Bioinformatics. 2020;36(7):2060-2067. doi:10.1093/bioinformatics/btz901

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.

Gubbels CS, VanNoy GE, Madden JA, et al. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020;22(4):736-744. doi:10.1038/s41436-019-0708-6

CRISPRitz: rapid, high-throughput and variant-aware in silico off-target site identification for CRISPR genome editing.

Cancellieri S, Canver MC, Bombieri N, Giugno R, Pinello L. CRISPRitz: rapid, high-throughput and variant-aware in silico off-target site identification for CRISPR genome editing. Bioinformatics. 2020;36(7):2001-2008. doi:10.1093/bioinformatics/btz867

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.

Wain KE, Azzariti DR, Goldstein JL, et al. Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties. Genet Med. 2020;22(4):785-792. doi:10.1038/s41436-019-0705-9

Rapid evolution of acute kidney injury after initial infusion of pembrolizumab in a melanoma patient concurrently treated with RAF/MEK inhibitors.

Thummalapalli R, Melms JC, Mier J, Izar B. Rapid evolution of acute kidney injury after initial infusion of pembrolizumab in a melanoma patient concurrently treated with RAF/MEK inhibitors. Melanoma Res. 2020;30(2):219-222. doi:10.1097/CMR.0000000000000646