Publications

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.

Rusu V, Hoch E, Mercader JM, et al. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell. 2017;170(1):199-212.e20. doi:10.1016/j.cell.2017.06.011.

Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

Tiao G, Improgo MR, Kasar S, et al. Rare germline variants in ATM are associated with chronic lymphocytic leukemia. Leukemia. 2017. doi:10.1038/leu.2017.201.

Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.

Nomura A, Won H-H, Khera AV, et al. Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease. Circ Res. 2017;121(1):81-88. doi:10.1161/CIRCRESAHA.117.311145.

CRISPR-Cas9 Mediated DNA Unwinding Detected Using Site-Directed Spin Labeling.

Tangprasertchai NS, Di Felice R, Zhang X, et al. CRISPR-Cas9 Mediated DNA Unwinding Detected Using Site-Directed Spin Labeling. ACS Chem Biol. 2017;12(6):1489-1493. doi:10.1021/acschembio.6b01137.

Discovery of novel heart rate-associated loci using the Exome Chip.

Van Den Berg ME, Warren HR, Cabrera CP, et al. Discovery of novel heart rate-associated loci using the Exome Chip. Hum Mol Genet. 2017;26(12):2346-2363. doi:10.1093/hmg/ddx113.

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.

Rodriguez-Broadbent H, Law PJ, Sud A, et al. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer. Int J Cancer. 2017;140(12):2701-2708. doi:10.1002/ijc.30709.

Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions.

Saleheen D, Zhao W, Young R, et al. Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions. Circulation. 2017;135(24):2336-2353. doi:10.1161/CIRCULATIONAHA.116.022069.

Modeling and analysis of modular structure in diverse biological networks.

Bader A-A, Sherif G, Noah O, et al. Modeling and analysis of modular structure in diverse biological networks. J Theor Biol. 2017;422:18-30. doi:10.1016/j.jtbi.2017.04.005.

LoLoPicker: detecting low allelic-fraction variants from low-quality cancer samples.

Carrot-Zhang J, Majewski J. LoLoPicker: detecting low allelic-fraction variants from low-quality cancer samples. Oncotarget. 2017;8(23):37032-37040. doi:10.18632/oncotarget.16144.

Implications of Failure to Routinely Diagnose Resistance to Second-Line Drugs in Patients With Rifampicin-Resistant Tuberculosis on Xpert MTB/RIF: A Multisite Observational Study.

Jacobson KR, Barnard M, Kleinman MB, et al. Implications of Failure to Routinely Diagnose Resistance to Second-Line Drugs in Patients With Rifampicin-Resistant Tuberculosis on Xpert MTB/RIF: A Multisite Observational Study. Clin Infect Dis. 2017;64(11):1502-1508. doi:10.1093/cid/cix128.