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1دورية أكاديمية
المؤلفون: Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis Antoniou, Samantha Baxter, Larry Brody, Robert Cook-Deegan, Amy Coffin, Fergus J Couch, Brian Craft, Robert Currie, Chloe C Dlott, Lena Dolman, Johan T den Dunnen, Stephanie O M Dyke, Susan M Domchek, Douglas Easton, Zachary Fischmann, William D Foulkes, Judy Garber, David Goldgar, Mary J Goldman, Peter Goodhand, Steven Harrison, David Haussler, Kazuto Kato, Bartha Knoppers, Charles Markello, Robert Nussbaum, Kenneth Offit, Sharon E Plon, Jem Rashbass, Heidi L Rehm, Mark Robson, Wendy S Rubinstein, Dominique Stoppa-Lyonnet, Sean Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, BRCA Challenge Authors, John Burn, Stephen Chanock, Gunnar Rätsch, Amanda B Spurdle
المصدر: PLoS Genetics, Vol 14, Iss 12, p e1007752 (2018)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
مصطلحات موضوعية: Rare disease, Genome sequencing, Genome interpretation, Variant prioritization, Best practices, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-7364Test
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3دورية أكاديمية
المؤلفون: Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith, Adam Gordon, Gail P. Jarvik, Patrick Sleiman, Melissa A. Kelly, Harris T. Bland, Mullai Murugan, Eric Venner, Eric Boerwinkle, the eMERGE III consortium, Cynthia Prows, Lisa Mahanta, Heidi L. Rehm, Richard A. Gibbs, Donna M. Muzny
المصدر: BMC Research Notes, Vol 17, Iss 1, Pp 1-8 (2024)
مصطلحات موضوعية: Next-generation sequencing (NGS), Clinical testing, Sex concordance, SNP genotyping, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-0500Test
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4دورية أكاديمية
المؤلفون: Stephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, Dina N Paltoo, Erin S Luetkemeier, Bartha M Knoppers, Anthony J Brookes, J Dylan Spalding, Mark Thompson, Marco Roos, Kym M Boycott, Michael Brudno, Matthew Hurles, Heidi L Rehm, Andreas Matern, Marc Fiume, Stephen T Sherry
المصدر: PLoS Genetics, Vol 12, Iss 1, p e1005772 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4721915?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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5دورية أكاديميةAdvancing access to genome sequencing for rare genetic disorders: recent progress and call to action
المؤلفون: Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative
المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-3 (2024)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2056-7944Test
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6دورية أكاديمية
المؤلفون: Frederick E Dewey, Rong Chen, Sergio P Cordero, Kelly E Ormond, Colleen Caleshu, Konrad J Karczewski, Michelle Whirl-Carrillo, Matthew T Wheeler, Joel T Dudley, Jake K Byrnes, Omar E Cornejo, Joshua W Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F Thorn, Joan M Hebert, Emidio Capriotti, Sean P David, Aleksandra Pavlovic, Anne West, Joseph V Thakuria, Madeleine P Ball, Alexander W Zaranek, Heidi L Rehm, George M Church, John S West, Carlos D Bustamante, Michael Snyder, Russ B Altman, Teri E Klein, Atul J Butte, Euan A Ashley
المصدر: PLoS Genetics, Vol 7, Iss 9, p e1002280 (2011)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3174201?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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7دورية أكاديمية
المؤلفون: Eleanor G. Seaby, N. Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria, Sarah Ennis
المصدر: Healthcare, Vol 11, Iss 24, p 3179 (2023)
مصطلحات موضوعية: rare disease, genetics, rare disease analysis, genomics, gene-agnostic, Medicine
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
مصطلحات موضوعية: Variant interpretation, Non-coding variation, Gene regulation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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9دورية أكاديمية
المؤلفون: Emma K. Folkerts, Renée C. Pelletier, Daniel C. Chung, Susan A. Goldstein, Douglas S. Micalizzi, Kristen M. Shannon, David A. Sweetser, Eugene K. Wong, Heidi L. Rehm, Leland E. Hull
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100819- (2023)
مصطلحات موضوعية: Access to health services, Genetic services, Healthcare delivery, Referral and consultation, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423008282Test; https://doaj.org/toc/2949-7744Test
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10دورية أكاديمية
المؤلفون: Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Variant curation, Precision medicine, Clinical genetics, Clinical Genome Resource Consortium, Medicine, Genetics, QH426-470
العلاقة: https://doi.org/10.1186/s13073-021-01004-8Test; https://doaj.org/toc/1756-994XTest; https://doaj.org/article/c5ae77d69fae41bca5be493d02302150Test
الإتاحة: https://doi.org/10.1186/s13073-021-01004-8Test
https://doaj.org/article/c5ae77d69fae41bca5be493d02302150Test