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1دورية أكاديمية
المؤلفون: Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards
المصدر: PLoS Genetics, Vol 18, Iss 11, p e1010367 (2022)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane A. Martins Moreno, Zhong Ren, Hemali Phatnani, The New York Genome Center ALS Sequencing Consortium, Timothy J. Aitman, Javier Santoyo-Lopez, Scottish Genomes Partnership, Hiroshi Mitsumoto, ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators, David B. Goldstein, Matthew B. Harms
المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-11 (2024)
مصطلحات موضوعية: Amyotrophic lateral sclerosis, ALS, Peripheral lateral sclerosis, PLS, Burden testing, Rare-variant analyses, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2164
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3دورية أكاديمية
المؤلفون: Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Sudden death in the young, Genome sequencing, Epilepsy, Arrhythmia, Cardiomyopathy, Gene burden, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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4دورية أكاديمية
المؤلفون: Megan J. Puckelwartz, Lorenzo L. Pesce, Lisa M. Dellefave‐Castillo, Matthew T. Wheeler, Tess D. Pottinger, Avery C. Robinson, Samuel D. Kearns, Anthony M. Gacita, Zachary J. Schoppen, Wenyu Pan, Gene Kim, Jane E. Wilcox, Allen S. Anderson, Euan A. Ashley, Sharlene M. Day, Thomas Cappola, Gerald W. Dorn, Elizabeth M. McNally
المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 7 (2021)
مصطلحات موضوعية: dilated cardiomyopathy, hypertrophic cardiomyopathy, modifier genes, variable expressivity, variant burden, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2047-9980
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5دورية أكاديمية
المؤلفون: Tess D. Pottinger, Megan J. Puckelwartz, Lorenzo L. Pesce, Avery Robinson, Samuel Kearns, Jennifer A. Pacheco, Laura J. Rasmussen‐Torvik, Maureen E. Smith, Rex Chisholm, Elizabeth M. McNally
المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 3 (2020)
مصطلحات موضوعية: biobank, cardiomyopathy, left ventricle, medically actionable genes, variants of uncertain significance, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2047-9980
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المؤلفون: Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix K Etheridge, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Heather MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
المصدر: medRxiv
مصطلحات موضوعية: Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f4ded27efef0884af4112da59a6363
https://doi.org/10.1101/2023.03.27.23287711 -
7دورية أكاديمية
المؤلفون: Victoria E. Jackson, Jeanne C. Latourelle, Louise V. Wain, Albert V. Smith, Megan L. Grove, Traci M. Bartz, Ma'en Obeidat, Michael A. Province, Wei Gao, Beenish Qaiser, David J. Porteous, Patricia A. Cassano, Tarunveer S. Ahluwalia, Niels Grarup, Jin Li, Elisabeth Altmaier, Jonathan Marten, Sarah E. Harris, Ani Manichaikul, Tess D. Pottinger, Ruifang Li-Gao, Allan Lind-Thomsen, Anubha Mahajan, Lies Lahousse, Medea Imboden, Alexander Teumer, Bram Prins, Leo-Pekka Lyytikäinen, Gudny Eiriksdottir, Nora Franceschini, Colleen M. Sitlani, Jennifer A. Brody, Yohan Bossé, Wim Timens, Aldi Kraja, Anu Loukola, Wenbo Tang, Yongmei Liu, Jette Bork-Jensen, Johanne M. Justesen, Allan Linneberg, Leslie A. Lange, Rajesh Rawal, Stefan Karrasch, Jennifer E. Huffman, Blair H. Smith, Gail Davies, Kristin M. Burkart, Josyf C. Mychaleckyj, Tobias N. Bonten, Stefan Enroth, Lars Lind, Guy G. Brusselle, Ashish Kumar, Beate Stubbe, Understanding Society Scientific Group, Mika Kähönen, Annah B. Wyss, Bruce M. Psaty, Susan R. Heckbert, Ke Hao, Taina Rantanen, Stephen B. Kritchevsky, Kurt Lohman, Tea Skaaby, Charlotta Pisinger, Torben Hansen, Holger Schulz, Ozren Polasek, Archie Campbell, John M. Starr, Stephen S. Rich, Dennis O. Mook-Kanamori, Åsa Johansson, Erik Ingelsson, André G. Uitterlinden, Stefan Weiss, Olli T. Raitakari, Vilmundur Gudnason, Kari E. North, Sina A. Gharib, Don D. Sin, Kent D. Taylor, George T. O'Connor, Jaakko Kaprio, Tamara B. Harris, Oluf Pederson, Henrik Vestergaard, James G. Wilson, Konstantin Strauch, Caroline Hayward, Shona Kerr, Ian J. Deary, R. Graham Barr, Renée de Mutsert, Ulf Gyllensten, Andrew P. Morris, M. Arfan Ikram, Nicole Probst-Hensch, Sven Gläser, Eleftheria Zeggini, Terho Lehtimäki, David P. Strachan, Josée Dupuis, Alanna C. Morrison, Ian P. Hall, Martin D. Tobin, Stephanie J. London
المصدر: Wellcome Open Research, Vol 3 (2018)
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Victoria E. Jackson, Jeanne C. Latourelle, Louise V. Wain, Albert V. Smith, Megan L. Grove, Traci M. Bartz, Ma'en Obeidat, Michael A. Province, Wei Gao, Beenish Qaiser, David J. Porteous, Patricia A. Cassano, Tarunveer S. Ahluwalia, Niels Grarup, Jin Li, Elisabeth Altmaier, Jonathan Marten, Sarah E. Harris, Ani Manichaikul, Tess D. Pottinger, Ruifang Li-Gao, Allan Lind-Thomsen, Anubha Mahajan, Lies Lahousse, Medea Imboden, Alexander Teumer, Bram Prins, Leo-Pekka Lyytikäinen, Gudny Eiriksdottir, Nora Franceschini, Colleen M. Sitlani, Jennifer A. Brody, Yohan Bossé, Wim Timens, Aldi Kraja, Anu Loukola, Wenbo Tang, Yongmei Liu, Jette Bork-Jensen, Johanne M. Justesen, Allan Linneberg, Leslie A. Lange, Rajesh Rawal, Stefan Karrasch, Jennifer E. Huffman, Blair H. Smith, Gail Davies, Kristin M. Burkart, Josyf C. Mychaleckyj, Tobias N. Bonten, Stefan Enroth, Lars Lind, Guy G. Brusselle, Ashish Kumar, Beate Stubbe, Understanding Society Scientific Group, Mika Kähönen, Annah B. Wyss, Bruce M. Psaty, Susan R. Heckbert, Ke Hao, Taina Rantanen, Stephen B. Kritchevsky, Kurt Lohman, Tea Skaaby, Charlotta Pisinger, Torben Hansen, Holger Schulz, Ozren Polasek, Archie Campbell, John M. Starr, Stephen S. Rich, Dennis O. Mook-Kanamori, Åsa Johansson, Erik Ingelsson, André G. Uitterlinden, Stefan Weiss, Olli T. Raitakari, Vilmundur Gudnason, Kari E. North, Sina A. Gharib, Don D. Sin, Kent D. Taylor, George T. O'Connor, Jaakko Kaprio, Tamara B. Harris, Oluf Pederson, Henrik Vestergaard, James G. Wilson, Konstantin Strauch, Caroline Hayward, Shona Kerr, Ian J. Deary, R. Graham Barr, Renée de Mutsert, Ulf Gyllensten, Andrew P. Morris, M. Arfan Ikram, Nicole Probst-Hensch, Sven Gläser, Eleftheria Zeggini, Terho Lehtimäki, David P. Strachan, Josée Dupuis, Alanna C. Morrison, Ian P. Hall, Martin D. Tobin, Stephanie J. London
المصدر: Wellcome Open Research, Vol 3 (2018)
وصف الملف: electronic resource
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9
المؤلفون: Jack Samuels, Anthony W. Zoghbi, Benjamin D. Greenberg, O. Joseph Bienvenu, James T. McCracken, Ying Wang, Marco A. Grados, Mark A. Riddle, Fernando S. Goes, Tess D. Pottinger, James A. Knowles, Brion S. Maher, Abby J. Fyer, Daniel A. Geller, Janice Krasnow, Mathew Halvorsen, Gerald Nestadt, David Goldstein, Paul S. Nestadt
المصدر: Nature Neuroscience. 24:1071-1076
مصطلحات موضوعية: 0301 basic medicine, Genetics, education.field_of_study, business.industry, General Neuroscience, Population, Odds ratio, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Cohort, Medicine, Missense mutation, business, education, Gene, Exome, Neuroscience, 030217 neurology & neurosurgery, Loss function, Exome sequencing
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10
المؤلفون: Elizabeth M. McNally, Samuel Kearns, Carlos G. Vanoye, Alexander Ing, Ponni Arunkumar, Rachael Olson, Lorenzo L. Pesce, Nora Ibrahim, Casey Brew, Sabah Kadri, Tess D. Pottinger, Franck Potet, Steven K White, Megan J. Puckelwartz, Amber Kofman, Alfred L. George, Gregory Webster, Patrick Page, Lisa Dellefave-Castillo, Kai Lee Yap
المصدر: JAMA Cardiol
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Cardiomyopathy, Autopsy, Sudden death, Article, Death, Sudden, Young Adult, Genotype-phenotype distinction, Internal medicine, medicine, Humans, Genetic Testing, Prospective Studies, Child, Genetic testing, Original Investigation, medicine.diagnostic_test, Whole Genome Sequencing, business.industry, Infant, Genomics, Middle Aged, medicine.disease, Penetrance, Phenotype, Child, Preschool, Cohort, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b996eb97991e10b44daf9ccf83ebed
https://europepmc.org/articles/PMC8358810/
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