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Publications

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

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.

Polla DL, Rahikkala E, Bode MK, et al. Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. Eur J Hum Genet. 2020;28(4):532. doi:10.1038/s41431-019-0491-5

Differential Metabolomic Signatures in Patients with Weight Regain and Sustained Weight Loss After Gastric Bypass Surgery: A Pilot Study.

Abidi W, Nestoridi E, Feldman H, et al. Differential Metabolomic Signatures in Patients with Weight Regain and Sustained Weight Loss After Gastric Bypass Surgery: A Pilot Study. Dig Dis Sci. 2020;65(4):1144-1154. doi:10.1007/s10620-019-05714-3

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.

Morales A, Kinnamon DD, Jordan E, et al. Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. Circ Genom Precis Med. 2020;13(2):e002480. doi:10.1161/CIRCGEN.119.002480

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.

Patel AP, Wang M, Fahed AC, et al. Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open. 2020;3(4):e203959. doi:10.1001/jamanetworkopen.2020.3959

Mechanisms and therapeutic implications of hypermutation in gliomas.

Touat M, Li YY, Boynton AN, et al. Mechanisms and therapeutic implications of hypermutation in gliomas. Nature. 2020;580(7804):517-523. doi:10.1038/s41586-020-2209-9