Search Results - "Strohbehn, Samuel"

Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples by Gorlov, Ivan P, Pikielny, Claudio W, Frost, Hildreth R, Her, Stephanie C, Cole, Michael D, Strohbehn, Samuel D, Wallace-Bradley, David, Kimmel, Marek, Gorlova, Olga Y, Amos, Christopher I

“…Because driver mutations provide selective advantage to the mutant clone, they tend to occur at a higher frequency in tumor samples compared to selectively…”
Get full text

Effect of Cancer Stage on Adverse Kidney Outcomes in Patients Receiving Immune Checkpoint Inhibitors for Melanoma by Wang, Qiyu, Strohbehn, Ian A., Zhao, Sophia, Seethapathy, Harish, Strohbehn, Samuel D., Hanna, Paul, Lee, Meghan, Fadden, Riley, Sullivan, Ryan J., Boland, Genevieve M., Reynolds, Kerry L., Sise, Meghan E.

Get full text

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts by Blue, Elizabeth E., Huang, Samuel J., Khan, Alyna, Golden-Grant, Katie, Boyd, Brenna, Rosenthal, Elisabeth A., Gillentine, Madelyn A., Fleming, Leah R., Adams, David R., Wolfe, Lynne, Allworth, Aimee, Bamshad, Michael J., Caruana, Nikeisha J., Chanprasert, Sirisak, Chen, Jingheng, Dargie, Nitsuh, Doherty, Daniel, Friederich, Marisa W., Hisama, Fuki M., Horike-Pyne, Martha, Lee, Jessica C., Donovan, Tonia E., Hock, Daniella H., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Ranchalis, Jane, Raskind, Wendy H., Michel, Cole R., Reisdorph, Richard, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Stroud, David A., Sybert, Virginia P., Wener, Mark H., Stergachis, Andrew B., Lam, Christina T., Jarvik, Gail P., Dipple, Katrina M., Van Hove, Johan L.K., Glass, Ian A.

“…Biallelic pathogenic variants in UQCRFS1 underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a…”
Get full text

Acute and chronic kidney function decline in patients receiving BRAF/MEK inhibitors for melanoma by Mistry, Kavita, Zhao, Sophia, Strohbehn, Ian, Wang, Qiyu, Hanna, Paul, Strohbehn, Samuel, Katz-Agranov, Nurit, Sullivan, Ryan J, Sise, Meghan E

Get full text

MO344: Effect of Cancer Stage on Adverse Kidney Outcomes in Patients With Advanced Melanoma Treated With Immune Checkpoint Inhibitors by Wang, Qiyu, Strohbehn, Ian, Strohbehn, Samuel, Lee, Meghan, Seethapathy, Harish, Hanna, Paul, Fadden, Riley, Reynolds, Kerry, Sullivan, Ryan, Zhao, Sophia, Boland, Genevieve, Sise, Meghan

Get full text

Examining the Association Between an Endolysosomal Polygenic Risk Score and Alzheimer's Disease by Strohbehn, Samuel David

“…Alzheimer’s disease (AD) is a highly heritable but polygenic common neurodegenerative disorder. Recent discoveries of AD risk susceptibility loci by…”
Get full text

Acute kidney injury after ruxolitinib: Common complication, uncommon cause by Strohbehn, Samuel, Seethapathy, Harish, Rusibamayila, Nifasha, Strohbehn, Ian, Lee, Meghan, Hobbs, Gabriela, Keyzner, Alla, Jhaveri, Kenar D., Sise, Meghan E.

Get full text

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A by Stergachis, Andrew B, Blue, Elizabeth E, Gillentine, Madelyn A, Wang, Lee-Kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E, Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B, Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y, Khan, Alyna T, Leppig, Kathleen A, Miller, Danny E, Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy H, Rosenthal, Elisabeth A, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P, Tran, Thao T, Wener, Mark H, Byers, Peter H H, Nelson, Stanley F, Bamshad, Michael J, Dipple, Katrina M, Jarvik, Gail P, Hoppins, Suzanne, Hisama, Fuki M

“…Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the…”
Get full text

Acute Kidney Injury Following Encorafenib and Binimetinib for Metastatic Melanoma by Seethapathy, Harish, Bates, Halla, Chute, Donald F., Strohbehn, Ian, Strohbehn, Samuel, Fadden, Riley M., Reynolds, Kerry L., Cohen, Justine V., Sullivan, Ryan J., Sise, Meghan E.

Get full text