Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

Authors: Pavel Loginovic, Feiyi Wang, Jiang Li, Lauric Ferrat, Uyenlinh L. Mirshahi, H. Shanker Rao, Axel Petzold, Jessica Tyrrell, Harry D. Green, Michael N. Weedon, Andrea Ganna, Tiinamaija Tuomi, David J. Carey, UKBB Eye & Vision Consortium, FinnGen, Geisinger-Regeneron DiscovEHR Collaboration, Richard A. Oram, Tasanee Braithwaite

Source: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/f6426afe6a114af2b693c61ff64bdbc0

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants

Authors: Kelvin C. de Andrade, Natasha T. Strande, Jung Kim, Jeremy S. Haley, Jessica N. Hatton, Megan N. Frone, Payal P. Khincha, Gretchen M. Thone, Uyenlinh L. Mirshahi, Cynthia Schneider, Heena Desai, James T. Dove, Diane T. Smelser, Arnold J. Levine, Kara N. Maxwell, Douglas R. Stewart, David J. Carey, Sharon A. Savage

Source: HGG Advances, Vol 5, Iss 1, Pp 100242- (2024)

Subject Terms: genome-first, TP53, Li-Fraumeni syndrome, LFS, cancer genetics, cancer risk, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S266624772300074X; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/addc5e489bb345e3861d80415655e2ce

A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts

Authors: Jung Kim, Jeremy Haley, Jessica N. Hatton, Uyenlinh L. Mirshahi, H. Shanker Rao, Mark F. Ramos, Diane Smelser, Gretchen M. Urban, Kris Ann P. Schultz, David J. Carey, Douglas R. Stewart

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101846- (2024)

Subject Terms: DICER1, DICER1 syndrome, Health care population, Penetrance, Prevalence, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009920; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/d0ec4b14921545f3b4f169c60f7ae7da

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

Authors: Viktoria Gusarova, Colm O’Dushlaine, Tanya M. Teslovich, Peter N. Benotti, Tooraj Mirshahi, Omri Gottesman, Cristopher V. Van Hout, Michael F. Murray, Anubha Mahajan, Jonas B. Nielsen, Lars Fritsche, Anders Berg Wulff, Daniel F. Gudbjartsson, Marketa Sjögren, Connor A. Emdin, Robert A. Scott, Wen-Jane Lee, Aeron Small, Lydia C. Kwee, Om Prakash Dwivedi, Rashmi B. Prasad, Shannon Bruse, Alexander E. Lopez, John Penn, Anthony Marcketta, Joseph B. Leader, Christopher D. Still, H. Lester Kirchner, Uyenlinh L. Mirshahi, Amr H. Wardeh, Cassandra M. Hartle, Lukas Habegger, Samantha N. Fetterolf, Teresa Tusie-Luna, Andrew P. Morris, Hilma Holm, Valgerdur Steinthorsdottir, Patrick Sulem, Unnur Thorsteinsdottir, Jerome I. Rotter, Lee-Ming Chuang, Scott Damrauer, David Birtwell, Chad M. Brummett, Amit V. Khera, Pradeep Natarajan, Marju Orho-Melander, Jason Flannick, Luca A. Lotta, Cristen J. Willer, Oddgeir L. Holmen, Marylyn D. Ritchie, David H. Ledbetter, Andrew J. Murphy, Ingrid B. Borecki, Jeffrey G. Reid, John D. Overton, Ola Hansson, Leif Groop, Svati H. Shah, William E. Kraus, Daniel J. Rader, Yii-Der I. Chen, Kristian Hveem, Nicholas J. Wareham, Sekar Kathiresan, Olle Melander, Kari Stefansson, Børge G. Nordestgaard, Anne Tybjærg-Hansen, Goncalo R. Abecasis, David Altshuler, Jose C. Florez, Michael Boehnke, Mark I. McCarthy, George D. Yancopoulos, David J. Carey, Alan R. Shuldiner, Aris Baras, Frederick E. Dewey, Jesper Gromada

Source: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/a3d832a109514250b3a42f9eaa1a1b95

Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.

Authors: Bryn S Moore, Uyenlinh L Mirshahi, Evan A Yost, Ann N Stepanchick, Michael D Bedrin, Amanda M Styer, Kathryn K Jackson, Christopher D Still, Gerda E Breitwieser, Glenn S Gerhard, David J Carey, Tooraj Mirshahi

Source: PLoS ONE, Vol 9, Iss 4, p e93629 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0093629&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/ba09539673d243149dc56a008e394908