Zobrazeno 1 - 10
of 1 601
pro vyhledávání: '"J. Rader"'
Autor:
Amy R. Pettit, Tamar Klaiman, Rebecca Connelly Kersting, Christina Johnson, Nkiru Ogbuefi, Maeve Moran, Krystin Sinclair, Jenna Steckel, Laurie Norton, Jennifer A. Orr, Adina Lieberman, Mary P. McGowan, Eric Tricou, Jinbo Chen, Daniel J. Rader, Kevin G. Volpp, Rinad S. Beidas
Publikováno v:
Implementation Science Communications, Vol 5, Iss 1, Pp 1-15 (2024)
Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition that carries increased risk for premature atherosclerotic cardiovascular disease, cardiovascular events, and death. Due to low uptake of evidence-based
Externí odkaz:
https://doaj.org/article/c9b3e63eee534509862d7b07192a2604
Autor:
Lillian Phung, Elisabeth Wood, Brian Egleston, Lily Hoffman-Andrews, Demetrios Ofidis, Sarah Howe, Rajia Mim, Hannah Griffin, Dominique Fetzer, Anjali Owens, Susan Domchek, Reed Pyeritz, Bryson Katona, Staci Kallish, Giorgio Sirugo, JoEllen Weaver, Katherine L. Nathanson, Daniel J. Rader, Angela R. Bradbury
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100346- (2024)
Summary: Research participants report interest in receiving genetic research results. How best to return results remains unclear. In this randomized pilot study, we sought to assess the feasibility of returning actionable research results through a t
Externí odkaz:
https://doaj.org/article/edde831edd684ca4b063e29b4c08d9d3
Autor:
Christina Johnson, Jinbo Chen, Mary P. McGowan, Eric Tricou, Mary Card, Amy R. Pettit, Tamar Klaiman, Daniel J. Rader, Kevin G. Volpp, Rinad S. Beidas
Publikováno v:
Implementation Science, Vol 19, Iss 1, Pp 1-18 (2024)
Abstract Background Familial hypercholesterolemia (FH) is a heritable disorder affecting 1.3 million individuals in the USA. Eighty percent of people with FH are undiagnosed, particularly minoritized populations including Black or African American pe
Externí odkaz:
https://doaj.org/article/f9e85d4e0ec442f9871d3608ee5ee6c0
Autor:
Helen Ye Rim Huang, Cecilia Vitali, David Zhang, Nicholas J. Hand, Michael C. Phillips, Kate Townsend Creasy, Eleonora Scorletti, Joseph Park, Regeneron Centre, Kai Markus Schneider, Daniel J. Rader, Carolin Victoria Schneider
Publikováno v:
JHEP Reports, Vol 7, Iss 1, Pp 101243- (2025)
Background & Aim: An unbiased genome-first approach can expand the molecular understanding of specific genes in disease-agnostic biobanks for deeper phenotyping. TM6SF2 represents a good candidate for this approach due to its known association with s
Externí odkaz:
https://doaj.org/article/20f5ad4bd2474b559cab79e7eda23789
Autor:
Isabel Song, Elizabeth W. Thompson, Anurag Verma, Matthew T. MacLean, Jeffrey Duda, Ameena Elahi, Richard Tran, Pavan Raghupathy, Sophia Swago, Mohamad Hazim, Abhijit Bhattaru, Carolin Schneider, Marijana Vujkovic, Drew A. Torigian, Charles E. Kahn, James C. Gee, Arijitt Borthakur, Colleen M. Kripke, Christopher C. Carson, Rotonya Carr, Qasim Jehangir, Yi-An Ko, Harold Litt, Mark Rosen, David A. Mankoff, Mitchell D. Schnall, Haochang Shou, Julio Chirinos, Scott M. Damrauer, Marina Serper, Jinbo Chen, Daniel J. Rader, Penn Medicine BioBank, Walter R. T. Witschey, Hersh Sagreiya
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract The objective of this study is to define CT imaging derived phenotypes for patients with hepatic steatosis, a common metabolic liver condition, and determine its association with patient data from a medical biobank. There is a need to furthe
Externí odkaz:
https://doaj.org/article/692f960984314095923392c9f96e3239
Autor:
Gonench Kilich, Kelly Hassey, Edward M. Behrens, Marni Falk, Adeline Vanderver, Daniel J. Rader, Patrick J. Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E. Sullivan, UDN Consortium
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-6 (2024)
Abstract Kagami–Ogata syndrome is a rare imprinting disorder and its phenotypic overlap with multiple different etiologies hampers diagnosis. Genetic etiologies include paternal uniparental isodisomy (upd(14)pat), maternal allele deletions of diffe
Externí odkaz:
https://doaj.org/article/18c87511f1c04d91a6e404df341c6e2e
Autor:
Leonida Hehl, Kate T. Creasy, Cecilia Vitali, Eleonora Scorletti, Katharina S. Seeling, Mara S. Vell, Miriam D. Rendel, Donna Conlon, Regeneron Genetics Center, Marijana Vujkovic, Inuk Zandvakili, Christian Trautwein, Kai M. Schneider, Daniel J. Rader, Carolin V. Schneider
Publikováno v:
Hepatology Communications, Vol 8, Iss 5 (2024)
Background:. Common variants of the max-like protein X (MLX)-interacting protein-like (MLXIPL) gene, encoding the transcription factor carbohydrate-responsive element-binding protein, have been shown to be associated with plasma triglyceride levels.
Externí odkaz:
https://doaj.org/article/183435d2206a42fdbf55f5d2b4325b1c
Autor:
Taylor Hanta Nagai, Chrissy Hartigan, Taiji Mizoguchi, Haojie Yu, Amy Deik, Kevin Bullock, Yanyan Wang, Debra Cromley, Monica Schenone, Chad A. Cowan, Daniel J. Rader, Clary B. Clish, Steven A. Carr, Yu-Xin Xu
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-13 (2023)
Abstract Biallelic mutations of the chromatin regulator SMARCAL1 cause Schimke Immunoosseous Dysplasia (SIOD), characterized by severe growth defects and premature mortality. Atherosclerosis and hyperlipidemia are common among SIOD patients, yet thei
Externí odkaz:
https://doaj.org/article/5a3eb819bb994b9f990ffb946a358df4
Autor:
Jacqueline Cappadocia, Lisa B. Aiello, Michael J. Kelley, Bryson W. Katona, Kara N. Maxwell, Anurag Verma, Ph.D., Shefali S. Verma, Ph.D., Yuki Bradford, M.S., Ashlei Brock, Stephanie DerOhannessian, Scott Dudek, M.S., Joseph Dunn, Theodore Drivas, M.D., Ph.D., Ned Haubein, Khadijah Hu-Sain, Renae Judy, Ashley Kloter, Yi-An Ko, Meghan Livingstone, Linda Morrel, Colleen Morse, M.S., Afiya Poindexter, Marjorie Risman, M.S., Teo Tran, Fred Vadivieso, JoEllen Weaver, Daniel J. Rader, M.D., Marylyn D. Ritchie, Ph.D., Michael D. Feldman, M.D., Ph.D., Christina Beechert, Caitlin Forsythe, M.S., Erin D. Fuller, Zhenhua Gu, M.S., Michael Lattari, Alexander Lopez, M.S., John D. Overton, Ph.D., Maria Sotiropoulos Padilla, M.S., Manasi Pradhan, M.S., Kia Manoochehri, B.S., Thomas D. Schleicher, M.S., Louis Widom, Sarah E. Wolf, M.S., Ricardo H. Ulloa, B.S., Amelia Averitt, Ph.D., Nilanjana Banerjee, Ph.D., Michael Cantor, M.D., Dadong Li, Ph.D., Sameer Malhotra, M.D., Deepika Sharma, MHI, Jeffrey Staples, Ph.D., Xiaodong Bai, Ph.D., Suganthi Balasubramanian, Ph.D., Suying Bao, Ph.D., Boris Boutkov, Ph.D., Siying Chen, Ph.D., Gisu Eom, B.S., Lukas Habegger, Ph.D., Alicia Hawes, B.S., Shareef Khalid, Olga Krasheninina, M.S., Rouel Lanche, B.S., Adam J. Mansfield, B.A., Evan K. Maxwell, Ph.D., George Mitra, B.A., Mona Nafde, M.S., Sean O’Keeffe, Ph.D., Max Orelus, B.B.A., Razvan Panea, Ph.D., Tommy Polanco, B.A., Ayesha Rasool, M.S., Jeffrey G. Reid, Ph.D., William Salerno, Ph.D., Jeffrey C. Staples, Ph.D., Kathie Sun, Ph.D., Goncalo Abecasis, D.Phil., Joshua Backman, Ph.D., Amy Damask, Ph.D., Lee Dobbyn, Ph.D., Manuel Allen Revez Ferreira, Ph.D., Arkopravo Ghosh, M.S., Christopher Gillies, Ph.D., Lauren Gurski, B.S., Eric Jorgenson, Ph.D., Hyun Min Kang, Ph.D., Michael Kessler, Ph.D., Jack Kosmicki, Ph.D., Alexander Li, Ph.D., Nan Lin, Ph.D., Daren Liu, M.S., Adam Locke, Ph.D., Jonathan Marchini, Ph.D., Anthony Marcketta, M.S., Joelle Mbatchou, Ph.D., Arden Moscati, Ph.D., Charles Paulding, Ph.D., Carlo Sidore, Ph.D., Eli Stahl, Ph.D., Kyoko Watanabe, Ph.D., Bin Ye, Ph.D., Blair Zhang, Ph.D., Andrey Ziyatdinov, Ph.D., Ariane Ayer, B.S., Aysegul Guvenek, Ph.D., George Hindy, Ph.D., Giovanni Coppola, M.D., Jan Freudenberg, M.D., Jonas Bovijn, M.D., Katherine Siminovitch, M.D., Kavita Praveen, Ph.D., Luca A. Lotta, M.D., Manav Kapoor, Ph.D., Mary Haas, Ph.D., Moeen Riaz, Ph.D., Niek Verweij, Ph.D., Olukayode Sosina, Ph.D., Parsa Akbari, Ph.D., Priyanka Nakka, Ph.D., Sahar Gelfman, Ph.D., Sujit Gokhale, B.E., Tanima De, Ph.D., Veera Rajagopal, Ph.D., Alan Shuldiner, M.D., Gannie Tzoneva, Ph.D., Juan Rodriguez-Flores, Ph.D., Esteban Chen, M.S., Marcus B. Jones, Ph.D., Michelle G. LeBlanc, Ph.D., Jason Mighty, Ph.D., Lyndon J. Mitnaul, Ph.D., Nirupama Nishtala, Ph.D., Nadia Rana, Ph.D., Jaimee Hernandez, Goncalo Abecasis, PhD, Aris Baras, M.D., Andrew Deubler, Aris Economides, Ph.D., Luca A. Lotta, M.D., Ph.D.
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101858- (2024)
This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2 racially diverse cohorts. We identified clinical reports of the PMS2 c.2523G>A p.(W841∗)
Externí odkaz:
https://doaj.org/article/208611a0067a41088e055b67156b197c
Autor:
Eleonora Scorletti, Yedidya Saiman, Sookyoung Jeon, Carolin V. Schneider, Delfin G. Buyco, Chelsea Lin, Blanca E. Himes, Clementina A. Mesaros, Marijana Vujkovic, Kate Townsend Creasy, Emma E. Furth, Jeffrey T. Billheimer, Nicholas J. Hand, David E. Kaplan, Kyong-Mi Chang, Philip S. Tsao, Julie A. Lynch, Joseph L. Dempsey, Julia Harkin, Susovon Bayen, Donna Conlon, Marie Guerraty, Michael C. Phillips, Daniel J. Rader, Rotonya M. Carr
Publikováno v:
JHEP Reports, Vol 6, Iss 1, Pp 100902- (2024)
Background & Aims: Non-alcoholic fatty liver disease (NAFLD) is characterised by the accumulation of lipid droplets (LDs) within hepatocytes. Perilipin 2 (PLIN2) is the most abundant protein in hepatic LDs and its expression correlates with intracell
Externí odkaz:
https://doaj.org/article/0f2aac76aa174d06be32dcaf8efba46a