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Publications

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

Multi-Omics Analysis Identifies MGA as a Negative Regulator of the MYC Pathway in Lung Adenocarcinoma.

Llabata P, Mitsuishi Y, Choi PS, et al. Multi-Omics Analysis Identifies MGA as a Negative Regulator of the MYC Pathway in Lung Adenocarcinoma. Mol Cancer Res. 2020;18(4):574-584. doi:10.1158/1541-7786.MCR-19-0657

Steroid resistance in Diamond Blackfan anemia associates with p57Kip2 dysregulation in erythroid progenitors.

Ashley RJ, Yan H, Wang N, et al. Steroid resistance in Diamond Blackfan anemia associates with p57Kip2 dysregulation in erythroid progenitors. J Clin Invest. 2020;130(4):2097-2110. doi:10.1172/JCI132284

Proteomic Profiling of the ECM of Xenograft Breast Cancer Metastases in Different Organs Reveals Distinct Metastatic Niches.

Hebert JD, Myers SA, Naba A, et al. Proteomic Profiling of the ECM of Xenograft Breast Cancer Metastases in Different Organs Reveals Distinct Metastatic Niches. Cancer Res. 2020;80(7):1475-1485. doi:10.1158/0008-5472.CAN-19-2961

Virtual Issue: Technological Innovations.

Gingras AC, Carr SA, Burlingame AL. Virtual Issue: Technological Innovations. Mol Cell Proteomics. 2020;19(4):572-573. doi:10.1074/mcp.E120.002042

Towards a treatment for genetic prion disease: trials and biomarkers.

Vallabh SM, Minikel EV, Schreiber SL, Lander ES. Towards a treatment for genetic prion disease: trials and biomarkers. Lancet Neurol. 2020;19(4):361-368. doi:10.1016/S1474-4422(19)30403-X