نتائج البحث - "Jonathan Z. Luo"

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دورية أكاديمية

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

المؤلفون: 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

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

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/9f24eb7300be4033aaf87fbf13407526

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2

دورية أكاديمية

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

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

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

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d7be12c3bdfc4e388db8c5c87684a9ab

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3

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

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

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Genetics, Skin Neoplasms, integumentary system, Receptor expression, Genetic Variation, Biology, medicine.disease, Penetrance, Phenotype, Human genetics, Article, medicine, Missense mutation, Humans, Exome, Expressivity (genetics), Skin cancer, Hair Color, Receptor, Melanocortin, Type 1, Genetics (clinical), Exome sequencing, Alleles

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

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4

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

المؤلفون: 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

المصدر: JAMA

مصطلحات موضوعية: Male, TRPP Cation Channels, Exome Sequencing, Mutation, Humans, Female, General Medicine, Middle Aged, Kidney, Polycystic Kidney, Autosomal Dominant, Retrospective Studies, Original Investigation

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

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

المؤلفون: 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

المصدر: Circulation

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

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ALG9 Mutation Carriers Develop Kidney and Liver Cysts

المؤلفون: 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

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

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

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

المؤلفون: Adam S. Gordon, Dan M. Roden, David Carrell, Brett M. Kroncke, Albert George, Yuko Wada, Ozan Dikilitas, Gail P. Jarvik, M. Benjamin Shoemaker, Kathleen A. Leppig, Jennifer A. Pacheco, James D. Ralston, Andrew M. Glazer, Kullo Iftikhar, Ashutosh Singhal, Eric B. Larson, Elizabeth M. McNally, Jonathan D. Mosley, Tarek Alsaied, Joshua C. Denny, Wendy K. Chung, Eric Farber-Eger, Sunghwan Sohn, Joseph T. Glessner, Christian M. Shaffer, Giovanni E Davogustto, Jonathan Z. Luo, Sarah T. Bland, Teri A. Manolio, Hakon Hakonarson, Shang Ning, Wei-Qi Wei, Zachary T. Yoneda, Daniel J. Schaid, Bahram Namjou, Patrick M. A. Sleiman, Sara L. Van Driest, Rajbir Singh, Olivia Kalash, Quinn S. Wells, Tooraj Mirshahi, Lauren L Rinke

المصدر: Circulation. 142

مصطلحات موضوعية: High rate, business.industry, Long QT syndrome, Bioinformatics, medicine.disease, symbols.namesake, Physiology (medical), medicine, Unselected population, Mendelian inheritance, symbols, cardiovascular diseases, Personalized medicine, Medical diagnosis, Cardiology and Cardiovascular Medicine, business, Gene, Likely pathogenic

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

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

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

المصدر: Behavioural Brain Research. 319:1-8

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

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

المؤلفون: 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

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

مصطلحات موضوعية: RNA viruses, Male, Viral Diseases, Coronaviruses, Epidemiology, medicine.medical_treatment, Electronic Medical Records, Type 2 diabetes, Disease, 030204 cardiovascular system & hematology, Medical Conditions, 0302 clinical medicine, Risk Factors, Chronic Kidney Disease, Medicine and Health Sciences, Renal Transplantation, Electronic Health Records, 030212 general & internal medicine, Pathology and laboratory medicine, Aged, 80 and over, Multidisciplinary, Medical microbiology, Middle Aged, Hospitalization, Infectious Diseases, Nephrology, Viruses, Medicine, Female, Kidney Diseases, SARS CoV 2, Pathogens, Anatomy, Information Technology, Coronavirus Infections, Research Article, Adult, Computer and Information Sciences, medicine.medical_specialty, SARS coronavirus, Science, Pneumonia, Viral, Cardiology, Surgical and Invasive Medical Procedures, Microbiology, Urinary System Procedures, End stage renal disease, Betacoronavirus, 03 medical and health sciences, Renal Dialysis, Internal medicine, Renal Diseases, medicine, Humans, Renal Insufficiency, Chronic, Risk factor, Pandemics, Dialysis, Aged, Retrospective Studies, Heart Failure, Transplantation, Biology and life sciences, SARS-CoV-2, business.industry, Organisms, Viral pathogens, COVID-19, Covid 19, Health Information Technology, Kidneys, Retrospective cohort study, Organ Transplantation, Renal System, Pennsylvania, medicine.disease, Microbial pathogens, Health Care, Medical Risk Factors, Kidney Failure, Chronic, Kidney disorder, business, Kidney disease

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

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10

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

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

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

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

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