Výsledky vyhledávání - "Jonathan Z Luo"

Akademický článek

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

Autor: Parsa Akbari, Olukayode A. Sosina, Jonas Bovijn, Karl Landheer, Jonas B. Nielsen, Minhee Kim, Senem Aykul, Tanima De, Mary E. Haas, George Hindy, Nan Lin, Ian R. Dinsmore, Jonathan Z. Luo, Stefanie Hectors, Benjamin Geraghty, Mary Germino, Lampros Panagis, Prodromos Parasoglou, Johnathon R. Walls, Gabor Halasz, Gurinder S. Atwal, Regeneron Genetics Center, DiscovEHR Collaboration, Marcus Jones, Michelle G. LeBlanc, Christopher D. Still, David J. Carey, Alice Giontella, Marju Orho-Melander, Jaime Berumen, Pablo Kuri-Morales, Jesus Alegre-Díaz, Jason M. Torres, Jonathan R. Emberson, Rory Collins, Daniel J. Rader, Brian Zambrowicz, Andrew J. Murphy, Suganthi Balasubramanian, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Michael Cantor, Goncalo R. Abecasis, Manuel A. R. Ferreira, Mark W. Sleeman, Viktoria Gusarova, Judith Altarejos, Charles Harris, Aris N. Economides, Vincent Idone, Katia Karalis, Giusy Della Gatta, Tooraj Mirshahi, George D. Yancopoulos, Olle Melander, Jonathan Marchini, Roberto Tapia-Conyer, Adam E. Locke, Aris Baras, Niek Verweij, Luca A. Lotta

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

Fat distribution is associated with cardiometabolic disease, although it has been less well studied than overall obesity. In a multiancestry exome-sequencing study, the authors identified predicted loss-of-function mutations in INHBE associated with

Externí odkaz: https://doaj.org/article/9f24eb7300be4033aaf87fbf13407526

Zobrazit plný text záznamu

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants

Autor: Ann Stepanchick, Jonathan Z. Luo, Bryn S. Moore, Tooraj Mirshahi

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

Purpose: Genetic variation in MC1R is a main determinant of red hair color (RHC) phenotype which confers susceptibility to skin disorders. Methods: We assessed the effects and function of MC1R variants identified in our clinical cohort of 135,947 par

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458135d00e93c689ff940a580a4128de
http://europepmc.org/articles/PMC8633122

Zobrazit plný text záznamu

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease

Autor: Alexander R, Chang, Bryn S, Moore, Jonathan Z, Luo, Gino, Sartori, Brian, Fang, Steven, Jacobs, Yoosif, Abdalla, Mohammed, Taher, David J, Carey, William J, Triffo, Gurmukteshwar, Singh, Tooraj, Mirshahi

Publikováno v: JAMA

ImportanceMost studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2. These can lead to biased estimates of population prevalence of ADPKD-associated gene variants and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad9344b7cec351c92396d985d66c5a8
https://doi.org/10.1001/jama.2022.22847

Zobrazit plný text záznamu

ALG9 Mutation Carriers Develop Kidney and Liver Cysts

Autor: William J Triffo, Bryn S. Moore, Ashima Gulati, Vicente E. Torres, Stefan Somlo, Shrikant Mane, Alex R. Chang, Whitney Besse, Tooraj Mirshahi, Jonathan Z. Luo, Dustin N. Hartzel

Publikováno v: Journal of the American Society of Nephrology. 30:2091-2102

Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f48670c5f8c8a90499ce21a5ad287360
https://doi.org/10.1681/asn.2019030298

Zobrazit plný text záznamu

Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

Autor: Gail P. Jarvik, Carlos G. Vanoye, Reshma R. Desai, Lauren Lee Rinke, Hakon Hakonarson, Eric B. Larson, Ozan Dikilitas, Christian M. Shaffer, Zachary T. Yoneda, Ning Shang, George Hripcsak, Teri A. Manolio, Giovanni Davogustto, Bahram Namjou, Tooraj Mirshahi, Patrick Sleiman, Ayesha Muhammad, Elizabeth M. McNally, Olivia R. Kalash, Quinn S. Wells, Kathleen A. Leppig, Jonathan D. Mosley, Driest Slv, Jonathan Z. Luo, Daniel J. Schaid, Yuko Wada, Shoemaker Mb, Tao Yang, Wei-Qi Wei, Brett M. Kroncke, James D. Ralston, Sarah Bland, David Carrell, J. Glessner, Devyn Mitchell, Jennifer A. Pacheco, Cong Liu, Wendy K. Chung, Dan M. Roden, Chunhua Weng, Iftikhar J. Kullo, Tarek Alsaied, Sunghwan Sohn, Josh C. Denny, Adam S. Gordon, Rajbir Singh, Ashutosh Singhal, Alfred L. George, Eric Farber-Eger, Andrew M. Glazer

Publikováno v: Circulation

Background: Sequencing Mendelian arrhythmia genes in individuals without an indication for arrhythmia genetic testing can identify carriers of pathogenic or likely pathogenic (P/LP) variants. However, the extent to which these variants are associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b5d1b477b050cc419946127ed5d8512
https://doi.org/10.1101/2021.03.30.21254549

Zobrazit plný text záznamu

Abstract 14663: High Rate of Arrhythmia Diagnoses Following Return of Pathogenic/likely Pathogenic Variants in an Unselected Population

Publikováno v: Circulation. 142

Background: Return of incidental genetic findings is recommended for pathogenic/likely pathogenic (P/LP) variants in Mendelian arrhythmia genes. The extent to which these variants are associated with arrhythmia phenotypes in unselected populations is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0d974e9ff050c45946324ddc1d72d9a0
https://doi.org/10.1161/circ.142.suppl_3.14663

Zobrazit plný text záznamu

Chronic restraint stress causes a delayed increase in responding for palatable food cues during forced abstinence via a dopamine D1-like receptor-mediated mechanism

Autor: Jonathan Z. Luo, Kevin T. Ball, Olivia Best, Leah R. Miller

Publikováno v: Behavioural Brain Research. 319:1-8

Relapse to unhealthy eating habits in dieters is often triggered by stress. Animal models, moreover, have confirmed a causal role for acute stress in relapse. The role of chronic stress in relapse vulnerability, however, has received relatively littl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2be1e1f063aad82ffbc26dda1afee1f3
https://doi.org/10.1016/j.bbr.2016.11.020

Zobrazit plný text záznamu

Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients

Autor: Alex C.Y. Chang, David H. Ledbetter, Dustin N. Hartzel, David J. Carey, Tooraj Mirshahi, H. Lester Kirchner, Anne E. Justice, Matthew T. Oetjens, Jonathan Z. Luo, Natasha T. Strande, Bryn S. Moore, Joseph B. Leader

Publikováno v: PLoS ONE
PLoS ONE, Vol 15, Iss 11, p e0242182 (2020)

Background Empirical data on conditions that increase risk of coronavirus disease 2019 (COVID-19) progression are needed to identify high risk individuals. We performed a comprehensive quantitative assessment of pre-existing clinical phenotypes assoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383e688521a2d4e4a21dd11a26c27d08
https://doi.org/10.1371/journal.pone.0242182

Zobrazit plný text záznamu

Trajectory of exonic variant discovery in a large clinical population: implications for variant curation

Autor: Kandamurugu Manickam, Uyenlinh L. Mirshahi, Jonathan Z. Luo, Tooraj Mirshahi, Amr H. Wardeh, David J. Carey, Michael F. Murray

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 21(6)

Precision health initiatives and reduced sequencing costs are driving large-scale human genome analyses. Genetic variant curation is a bottleneck in clinical applications. The burden of variant curation can be high for newly discovered variants becau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b96a94c87eac124eebd04b45cf081b7
https://pubmed.ncbi.nlm.nih.gov/30449888

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání