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1دورية أكاديمية
المؤلفون: Megan Li, Yi-Lee Ting, Trevor Williams, Jackie Tahiliani, Brandon Bunker, Daniel Pineda-Alvarez, Swaroop Aradhya
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101478- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006241Test; https://doaj.org/toc/2949-7744Test
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2دورية 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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المؤلفون: Jackie Tahiliani, Karen Ouyang, Swaroop Aradhya, Jeanne Leisk, Keith Nykamp, Kerry W. Aradhya
المصدر: Current Genetic Medicine Reports. 8:140-146
مصطلحات موضوعية: 0301 basic medicine, Standardization, medicine.diagnostic_test, Computer science, Genetic counseling, RNA, Genomics, Context (language use), General Medicine, Computational biology, 030105 genetics & heredity, 03 medical and health sciences, 030104 developmental biology, RNA splicing, medicine, Uncertain significance, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c8b2199bbc18a74a0a2f2352ece1eb5eTest
https://doi.org/10.1007/s40142-020-00195-7Test -
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المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm
المساهمون: Wellcome Trust, British Heart Foundation
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)
مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test -
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المؤلفون: Arina Puzriakova, Charlotte Rodwell, Kelly Radtke, Alison J. Coffey, Fiona Cunningham, Angharad M. Roberts, Sarah Leigh, Joanna S. Amberger, Erin Rooney Riggs, Ana Rath, Christina Austin Tse, Michael Yates, Marina T. DiStefano, Ada Hamosh, James S. Ware, Annie Olry, Jennifer L. Goldstein, Carol Bocchini, Eleanor Williams, Catherine E. Snow, Christa Lese Martin, Scott R. Goehringer, Heidi L. Rehm, Matthew E. Hurles, David R. FitzPatrick, Ivone U. S. Leong, Elspeth A. Bruford, Ellen M. McDonagh, Jackie Tahiliani, Helen V. Firth, Zornitza Stark, Caroline F. Wright, Ewan Birney, Jonathan S. Berg, Erin M. Ramos, Marie Balzotti, Heather Collins
المصدر: Molecular Genetics and Metabolism. 132:S224-S225
مصطلحات موضوعية: World Wide Web, Endocrinology, Computer science, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b37573c9f691c96fec532f4214337271Test
https://doi.org/10.1016/s1096-7192Test(21)00430-3 -
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المؤلفون: Francisca Millan, Megan T. Cho, Nizar Smaoui, Julie Neidich, Tracy Brandt, Gabriele Richard, Sherri J. Bale, Kyle Retterer, Wendy K. Chung, Kristin G. Monaghan, Renkui Bai, Eden Haverfield, Bethany Friedman, Sharon F. Suchy, Federica Gibellini, Annette Vertino-Bell, Patrik Vitazka, Dianalee McKnight, Jackie Tahiliani, Daniel E. Pineda-Alvarez, Jane Juusola
المصدر: Genetics in Medicine. 18:696-704
مصطلحات موضوعية: 0301 basic medicine, Proband, Candidate gene, medicine.medical_specialty, business.industry, Genetic heterogeneity, 03 medical and health sciences, 030104 developmental biology, Internal medicine, Medicine, Medical genetics, business, Exome, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::48910cd1549e904b9e14e0b7a9860a21Test
https://doi.org/10.1038/gim.2015.148Test -
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المؤلفون: Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper, Sienna Aguilar, Swaroop Aradhya, Daniel Beltran, Brandon Bunker, Amy Daly, Anne Deucher, Tali Ekstein, Ali Entezam, Karl Erhard, Ed Esplin, Jennifer Fulbright, Amy Fuller, Kristen McDonald Gibson, Tina Hambuch, Rachel Harte, Christy Hartshorne, Eden Haverfield, Nastaran Heidari, Michelle Hogue, Daniela Iacoboni, Britt Johnson, Hio Chung Kang, Rachel Lewis, Shiloh Martin, Sarah McCalmon, Scott Michalski, Cindy Morgan, Laura Murillo, Piper Nicolosi, Karen Ouyang, Carolina Pardo, Rita Quintana, Marina Rabideau, Darlene Riethmaier, Amanda Stafford, Jackie Tahiliani, Chris Tan, S. Paige Taylor, Shu-Huei Wang, Hannah White, Ian Wilson, Tom Winder, Michelle K. Zeman
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Information retrieval, Genome, Human, Computer science, variant interpretation, Published Erratum, MEDLINE, Correction, Genetic Variation, High-Throughput Nucleotide Sequencing, ACMG laboratory guideline, Genomics, Sequence Analysis, DNA, clinical genetic testing, 030105 genetics & heredity, clinical interpretation, 03 medical and health sciences, 030104 developmental biology, Humans, Original Research Article, Genetic Testing, variant classification, Software, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a146539648054315d9d756d7fc859d77Test
https://doi.org/10.1038/s41436-019-0624-9Test -
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المؤلفون: Nicole M. Johnson, John Garcia, Laura Murillo, Keith Nykamp, Sienna Aguilar, Daniel Beltran, Blanca Herrera, Eden Haverfield, Emily Decker, Scott Topper, Jackie Tahiliani, Amy Daly
المصدر: Frontiers in Cardiovascular Medicine
مصطلحات موضوعية: 0301 basic medicine, cardiomyopathies, Long QT syndrome, Cardiomyopathy, 030204 cardiovascular system & hematology, Biology, Cardiovascular Medicine, Catecholaminergic polymorphic ventricular tachycardia, Bioinformatics, genetic testing, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetic testing, Original Research, medicine.diagnostic_test, business.industry, Genetic heterogeneity, Short QT syndrome, curation, medicine.disease, Arrhythmogenic right ventricular dysplasia, ARVD/C, 030104 developmental biology, Personalized medicine, Cardiology and Cardiovascular Medicine, business, arrhythmias
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59de19c05b7fea787611295180c0fb52Test
https://pubmed.ncbi.nlm.nih.gov/27446933Test