Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array.

Autor: Stephanie A Bien, Genevieve L Wojcik, Niha Zubair, Christopher R Gignoux, Alicia R Martin, Jonathan M Kocarnik, Lisa W Martin, Steven Buyske, Jeffrey Haessler, Ryan W Walker, Iona Cheng, Mariaelisa Graff, Lucy Xia, Nora Franceschini, Tara Matise, Regina James, Lucia Hindorff, Loic Le Marchand, Kari E North, Christopher A Haiman, Ulrike Peters, Ruth J F Loos, Charles L Kooperberg, Carlos D Bustamante, Eimear E Kenny, Christopher S Carlson, PAGE Study

Publikováno v: PLoS ONE, Vol 11, Iss 12, p e0167758 (2016)

Investigating genetic architecture of complex traits in ancestrally diverse populations is imperative to understand the etiology of disease. However, the current paucity of genetic research in people of African and Latin American ancestry, Hispanic a

Externí odkaz: https://doaj.org/article/058f951d52f948779c6f3905095aaf8f

Role of Health Information Technology in Addressing Health Disparities

Autor: Phuong-Tu Le, Xinzhi Zhang, Courtney Ferrell Aklin, Michael H. Sayre, Kesi Williams, Theresa Cullen, Derrick C. Tabor, Regina James, Ida Sim, Vincent A. Thomas, Beda Jean-Francois, Rachel Gold, Benyam Hailu, Cheryl A. Casnoff, Ligia Artiles

Publikováno v: Medical care, vol 57 Suppl 6 Suppl 2, iss Suppl 6 2
Med Care

Over the last decade, health information technology (IT) has dramatically transformed medical practice in the United States. On May 11-12, 2017, the National Institute on Minority Health and Health Disparities (NIMHD), in partnership with the Nationa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d16ce42d08845d43c411bf3b7ce7e548
https://doi.org/10.1097/mlr.0000000000001092

Rates of Incidental Findings in Brain Magnetic Resonance Imaging in Children

Autor: Fiona C. Baker, Regina James, B. J. Casey, Chandra Sripada, Matthew D. Albaugh, Jody Tanabe, Kevin M. Gray, Ryan Bogdan, Susan F. Tapert, Donald J. Hagler, Raul Gonzalez, Jerzy Bodurka, Alexandra Potter, Nishadi Rajapakse, Perry F. Renshaw, Bonnie J. Nagel, Andrew C. Heath, Kristina M. Rapuano, Aimee Goldstone, Kristina A. Uban, Masha Y. Ivanova, Monica D. Rosenberg, Claudiu Schirda, Andreas M. Rauschecker, Chandni Sheth, Susan Y. Bookheimer, Kara S. Bagot, Maria Alejandra Infante, Julian Brown, Adolf Pfefferbaum, Clare E. Palmer, Jay N. Giedd, Monica Luciana, Ryan M. Nillo, Steven G. Heeringa, James M. Bjork, Robert Hermosillo, Nicole R. Karcher, Angela R. Laird, Vince D. Calhoun, John J. Foxe, Andrey P. Anokhin, Anders M. Dale, Robert A. Zucker, Jeffrey D. Rudie, Paul D. Shilling, Frank Haist, Sarah W. Feldstein Ewing, Natasha E. Wade, Robert F. Dougherty, Sean N. Hatton, Amanda Sheffield Morris, Michael C. Neale, Mary M. Heitzeg, Martin P. Paulus, Edward G. Freedman, Wesley K. Thompson, Chase Reuter, Hermine H. Maes, Megan M. Herting, Beatriz Luna, Amal Isaiah, Paul E.A. Glaser, Elizabeth Hoffman, Devin Prouty, Bader Chaarani, Sandra A. Brown, Arielle R. Baskin-Sommers, Linda Chang, Christine C. Cloak, Meyer D. Glantz, Joanna Jacobus, Katia D. Howlett, Nicholas Allgaier, Erin McGlade, Hugh Garavan, M Deanna, Joshua M. Kuperman, Yi Li, Michael Mason, Anthony Steven Dick, Duncan B. Clark, Samuel W. Hawes, Lindsay M. Squeglia, Elizabeth R. Sowell, Krista M. Lisdahl, Elizabeth K. Do, Nico U.F. Dosenbach, Terry L. Jernigan, Susan R.B. Weiss, Matthew T. Sutherland, Thomas Ernst, Marie T. Banich, Linda B. Cottler, Leon I. Puttler, Gaya Dowling, Rebeka Huber, Charles J. Heyser, John M. Hettema, William G. Iacono, Gloria Reeves, Sarah Edwards, Kenneth J. Sher, John K. Hewitt, Deborah A. Yurgelun-Todd, Dylan G. Gee, Leo P. Sugrue, Andrew T. Marshall, Florence J. Breslin

Publikováno v: JAMA Neurol

Importance Incidental findings (IFs) are unexpected abnormalities discovered during imaging and can range from normal anatomic variants to findings requiring urgent medical intervention. In the case of brain magnetic resonance imaging (MRI), reliable

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3bea25f8f54bda3b684c351a3a00451
https://doi.org/10.1001/jamaneurol.2021.0306

Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

Autor: Omri Gottesman, Ruth J. F. Loos, Elena P. Sorokin, Jacqueline A. Odgis, Lisa Edelmann, Muh-Ching Yee, Janina M. Jeff, Eimear E. Kenny, Claudia Schurmann, Ruth Kornreich, Amanda Merkelson, Douglas M. Ruderfer, Benjamin S. Glicksberg, Michael D. Linderman, Sumita Kohli, Kristin L. Young, Regina James, Misa Graff, Christopher R. Gignoux, Kari E. North, Lucia A. Hindorff, Anne E. Justice, Judy H. Cho, Tielman Van Vleck, Noura S. Abul-Husn, Genevieve L. Wojcik, Gillian M. Belbin, Ulrike Peters, Erwin P. Bottinger, Girish N. Nadkarni, Xiaoqiang Cai, Eli A. Stahl

Publikováno v: eLife, Vol 6 (2017)
eLife

Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a20a6a2c429eba437eb5cf10693cbd
https://elifesciences.org/articles/25060

Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array

Autor: Kari E. North, Christopher A. Haiman, Regina James, Loic Le Marchand, Lucia A. Hindorff, Mariaelisa Graff, Charles Kooperberg, Christopher S. Carlson, Ulrike Peters, Jeffrey Haessler, Steven Buyske, Ruth J. F. Loos, Niha Zubair, Eimear E. Kenny, Genevieve L. Wojcik, Christopher R. Gignoux, Alicia R. Martin, Iona Cheng, Stephanie A. Bien, Jonathan M. Kocarnik, Lisa W. Martin, Carlos Bustamante, Ryan W. Walker, Tara C. Matise, Nora Franceschini, Lucy Xia

Publikováno v: PLoS ONE
PLoS ONE, Vol 11, Iss 12, p e0167758 (2016)

Investigating genetic architecture of complex traits in ancestrally diverse populations is imperative to understand the etiology of disease. However, the current paucity of genetic research in people of African and Latin American ancestry, Hispanic a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b800b9f547851951a3ab53a999a5e78
https://pubmed.ncbi.nlm.nih.gov/27973554