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1دورية 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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2دورية أكاديمية
المؤلفون: Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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3دورية أكاديميةDe novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
المؤلفون: Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S. Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O’Donnell-Luria, Travis H. Stracker
المصدر: iScience, Vol 27, Iss 6, Pp 109984- (2024)
مصطلحات موضوعية: neuroscience, genetics, immunology, Science
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589004224012069Test; https://doaj.org/toc/2589-0042Test
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4دورية أكاديمية
المؤلفون: Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101136- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424002826Test; https://doaj.org/toc/2949-7744Test
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5دورية أكاديمية
المؤلفون: Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101481- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006277Test; https://doaj.org/toc/2949-7744Test
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6دورية أكاديمية
المؤلفون: Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006228Test; https://doaj.org/toc/2949-7744Test
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7دورية أكاديميةP451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
المؤلفون: Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423004983Test; https://doaj.org/toc/2949-7744Test
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8دورية أكاديمية
المؤلفون: Emily O'Heir, Patricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, Emma Eastman, Celia van der Merwe, Alice Galvin, Jake Allen, Victoria de Menil, Alysia Lovgren, Christina Austin-Tse, Amina Abubakar, Charles Newton, Kirsten Donald, Anne O'Donnell-Luria, Elise Robinson
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100570- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423005708Test; https://doaj.org/toc/2949-7744Test
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9
المؤلفون: Victor, Nauffal, Valerie N, Morrill, Sean J, Jurgens, Seung Hoan, Choi, Amelia W, Hall, Lu-Chen, Weng, Jennifer L, Halford, Christina, Austin-Tse, Christopher M, Haggerty, Stephanie L, Harris, Eugene K, Wong, Alvaro, Alonso, Dan E, Arking, Emelia J, Benjamin, Eric, Boerwinkle, Yuan-I, Min, Adolfo, Correa, Brandon K, Fornwalt, Susan R, Heckbert, Charles, Kooperberg, Henry J, Lin, Ruth, J F Loos, Kenneth M, Rice, Namrata, Gupta, Thomas W, Blackwell, Braxton D, Mitchell, Alanna C, Morrison, Bruce M, Psaty, Wendy S, Post, Susan, Redline, Heidi L, Rehm, Stephen S, Rich, Jerome I, Rotter, Elsayed Z, Soliman, Nona, Sotoodehnia, Kathryn L, Lunetta, Patrick T, Ellinor, Steven A, Lubitz
المساهمون: Cardiology, Graduate School
المصدر: Circulation
Circulation, 145(20), 1524-1533. Lippincott Williams and Wilkinsمصطلحات موضوعية: QT interval, Heterozygote, Multifactorial Inheritance, Whole Genome Sequencing, polygenic, sudden cardiac death, Article, Electrocardiography, Long QT Syndrome, Physiology (medical), monogenic, Humans, Cardiology and Cardiovascular Medicine, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c27e949845c00cc0a00aceeb19dff51Test
https://pubmed.ncbi.nlm.nih.gov/35389749Test -
10
المؤلفون: Christine Y. Lu, Krishna G. Aragam, Candace Patterson, Pradeep Natarajan, Holly Head, Caroline Harley, Amit Khera, Miriam S. Udler, Deanna Brockman, Courtney Elizabeth Leonard, Heidi L. Rehm, Kimberly O’Brien, Lisa Mahanta, Matthew S. Lebo, Sekar Kathiresan, Renee C. Pelletier, Christina Austin-Tse
المصدر: Genet Med
مصطلحات موضوعية: Adult, medicine.medical_specialty, Standard of care, medicine.diagnostic_test, business.industry, MEDLINE, Chromosome Mapping, Diagnostic test, Article, Confidence interval, Molecular Diagnostic Techniques, Internal medicine, Cohort, medicine, Humans, Clinical significance, Genetic Testing, Prospective Studies, Pathology, Molecular, Medical diagnosis, Child, business, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cfa654d23facbc2d001614cd1d79f2Test
https://doi.org/10.1038/s41436-021-01193-yTest