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Publications

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.

Tayoun ANA, Spinner NB, Rehm HL, Green RC, Bianchi DW. Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations. Prenat Diagn. 2017. doi:10.1002/pd.5038

Selective Chemical Inhibition of PGC-1α Gluconeogenic Activity Ameliorates Type 2 Diabetes.

Sharabi K, Lin H, Tavares CDJ, et al. Selective Chemical Inhibition of PGC-1α Gluconeogenic Activity Ameliorates Type 2 Diabetes. Cell. 2017;169(1):148-160.e15. doi:10.1016/j.cell.2017.03.001

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.

Manolio TA, Fowler DM, Starita LM, et al. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell. 2017;169(1):6-12. doi:10.1016/j.cell.2017.03.005

Bacterial virulence phenotypes of Escherichia coli and host susceptibility determine risk for urinary tract infections.

Schreiber HL, Conover MS, Chou WC, et al. Bacterial virulence phenotypes of Escherichia coli and host susceptibility determine risk for urinary tract infections. Sci Transl Med. 2017;9(382). doi:10.1126/scitranslmed.aaf1283

Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies.

Chibnik LB, White CC, Mukherjee S, et al. Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies. Mol Psychiatry. 2017. doi:10.1038/mp.2017.20

Genomic innovations linked to infection strategies across emerging pathogenic chytrid fungi.

Farrer RA, Martel A, Verbrugghe E, et al. Genomic innovations linked to infection strategies across emerging pathogenic chytrid fungi. Nat Commun. 2017;8:14742. doi:10.1038/ncomms14742

Clinical Implications of Novel Genomic Discoveries in Chronic Lymphocytic Leukemia.

Lazarian G, Guièze R, Wu CJ. Clinical Implications of Novel Genomic Discoveries in Chronic Lymphocytic Leukemia. J Clin Oncol. 2017;35(9):984-993. doi:10.1200/JCO.2016.71.0822

Systematic morphological profiling of human gene and allele function via Cell Painting.

Rohban MH, Singh S, Wu X, et al. Systematic morphological profiling of human gene and allele function via Cell Painting. Elife. 2017;6. doi:10.7554/eLife.24060

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules.

Zaganelli S, Rebelo-Guiomar P, Maundrell K, et al. The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules. J Biol Chem. 2017;292(11):4519-4532. doi:10.1074/jbc.M116.771105

Integrated genomic and molecular characterization of cervical cancer.

Cancer Genome Atlas Research Network, Albert Einstein College of Medicine, Analytical Biological Services, et al. Integrated genomic and molecular characterization of cervical cancer. Nature. 2017;543(7645):378-384. doi:10.1038/nature21386