المؤلفون: Preston, Christine, Wright, Matt, Madhavrao, Rao, Harrison, Steven, Goldstein, Jennifer, Luo, Xi, Wand, Hannah, Wulf, Bryan, Cheung, Gloria, Mandell, Mark, Tong, Howard, Cheng, Shaung, Iacocca, Michael, Pineda, Arturo, Popejoy, Alice, Dalton, Karen, Zhen, Jimmy, Dwight, Selina, Babb, Lawrence, DiStefano, Marina, ODaniel, Julianne, Lee, Kristy, Riggs, Erin, Zastrow, Diane, Mester, Jessica, Ritter, Deborah, Patel, Ronak, Subramanian, Sai, Milosavljevic, Aleksander, Berg, Jonathan, Rehm, Heidi, Plon, Sharon, Cherry, J, Bustamante, Carlos, Costa, Helio

المصدر: Genome Medicine. 14(1)

مصطلحات موضوعية: Clinical Genome Resource Consortium, Clinical genetics, Precision medicine, Variant curation, Humans, Genetic Testing, Genetic Variation, Genome, Human, Genomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0xq3j4jp
https://escholarship.org/content/qt0xq3j4jp/qt0xq3j4jp.pdf

المؤلفون: Chora, Joana Rita, Bourbon, Mafalda, em nome do FH Variant Curation Expert Panel

مصطلحات موضوعية: Hipercolesterolemia Familiar, Colesterol, Classificação de Variantes, Clinical Genome Resource, Doenças Genéticas e Condições de Base Genética, Recomendações

Relation: Boletim Epidemiológico Observações. 2024 janeiro-abril;13(35):73-79; 2182-8873 (em linha); http://hdl.handle.net/10400.18/9181

الاتاحة: http://hdl.handle.net/10400.18/9181

المؤلفون: Popejoy, Alice B, Crooks, Kristy R, Fullerton, Stephanie M, Hindorff, Lucia A, Hooker, Gillian W, Koenig, Barbara A, Pino, Natalie, Ramos, Erin M, Ritter, Deborah I, Wand, Hannah, Wright, Matt W, Yudell, Michael, Zou, James Y, Plon, Sharon E, Bustamante, Carlos D, Ormond, Kelly E, Group, Clinical Genome Resource Ancestry and Diversity Working

المصدر: American Journal of Human Genetics. 107(1)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Genetics, Biological Sciences, Human Genome, Precision Medicine, Good Health and Well Being, Adult, Child, Data Collection, Ethnicity, Female, Genetic Testing, Genetic Variation, Genomics, Humans, Male, Prohibitins, Surveys and Questionnaires, Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group, CSER, ClinGen, ancestry, clinical genetics, diversity, ethnicity, precision medicine, race, survey, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/05h2147q
https://escholarship.org/content/qt05h2147q/qt05h2147q.pdf

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, on behalf of the Clinical Genome Resource (ClinGen)

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

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/c5ae77d69fae41bca5be493d02302150

المؤلفون: Dona M. Kanavy, Shannon M. McNulty, Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)

مصطلحات موضوعية: Clinical genome resource, Clinical exome sequencing, Clinical genome sequencing, Functional assays, Variant interpretation, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/953cd458b6704122b1525cfebd52050e

المؤلفون: Helbig, Ingo, Riggs, Erin Rooney, Barry, Carrie-Anne, Klein, Karl Martin, Dyment, David, Thaxton, Courtney, Sadikovic, Bekim, Sands, Tristan T, Wagnon, Jacy L, Liaquat, Khalida, Cilio, Maria-Roberta, Mirzaa, Ghayda, Park, Kristen, Axeen, Erika, Butler, Elizabeth, Bardakjian, Tanya M, Striano, Pasquale, Poduri, Annapurna, Siegert, Rebecca K, Grant, Andrew R, Helbig, Katherine L, Mefford, Heather C

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Human mutation, Vol. 39, no.11, p. 1476-1484 (2018)

مصطلحات موضوعية: Epilepsy, Genetic Testing, Humans, Mutation, Phenotype, ClinGen/Clinical Genome Resource, Clinical validity, Epileptic encephalopathy, Gene-disease association

Relation: boreal:231734; http://hdl.handle.net/2078.1/231734; info:pmid/30311377; urn:ISSN:1059-7794; urn:EISSN:1098-1004

الاتاحة: http://hdl.handle.net/2078.1/231734
https://doi.org/10.1002/humu.23632

المؤلفون: Iacocca, MA, Chora, JR, Carrie, A, Freiberger, T, Leigh, SE, Defesche, JC, Kurtz, CL, DiStefano, MT, Santos, RD, Humphries, SE, Mata, P, Jannes, CE, Hooper, AJ, Wilemon, KA, Benlian, P, O'Connor, R, Garcia, J, Wand, H, Tichy, L, Sijbrands, EJ, Hegele, RA, Bourbon, M, Knowles, JW

المصدر: Human Mutation , 39 (11) pp. 1631-1640. (2018)

مصطلحات موضوعية: Familial Hypercholesterolemia, Clinical Genome Resource, Variant Interpretation, ClinVAr

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10063786/1/Submitted%20manuscript.pdf; https://discovery.ucl.ac.uk/id/eprint/10063786/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10063786/1/Submitted%20manuscript.pdf
https://discovery.ucl.ac.uk/id/eprint/10063786/

المؤلفون: Chora, Joana Rita, Bourbon, Mafalda, em nome do FH Variant Curation Expert Panel

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Hipercolesterolemia Familiar, Colesterol, Classificação de Variantes, Clinical Genome Resource, Doenças Genéticas e Condições de Base Genética, Recomendações

وصف الملف: application/pdf

Relation: 0874-2928; 2182-8873 (em linha)

الاتاحة: http://hdl.handle.net/10400.18/9181

المؤلفون: Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg, Shannon M. McNulty, Dona M. Kanavy

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)
Genome Medicine

مصطلحات موضوعية: Functional assay, medicine.medical_specialty, lcsh:QH426-470, Computer science, Process (engineering), Systems biology, Clinical genome sequencing, lcsh:Medicine, Genomics, Computational biology, Disease, 03 medical and health sciences, Consistency (database systems), 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Functional studies, Genetic Testing, Molecular Biology, Expert Testimony, Genetics (clinical), Variant interpretation, 030304 developmental biology, Functional assays, 0303 health sciences, Mechanism (biology), Research, lcsh:R, Disease Management, Genetic Variation, Human genetics, Clinical exome sequencing, lcsh:Genetics, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Molecular Medicine, Medical genetics, Disease Susceptibility, Medical Informatics, Software, Clinical genome resource

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ad7485e9a1ddf2479db2fdba976cd9
https://doaj.org/article/953cd458b6704122b1525cfebd52050e

المؤلفون: Dalton K, Preston Cg, Steven M. Harrison, Lawrence J. Babb, Bryan Wulf, Heidi L. Rehm, Selina S. Dwight, Jimmy Zhen, J. M. Cherry, Deborah I. Ritter, Kristy Lee, Erin Rooney Riggs, Madhavrao R, Cheng S, Jessica L. Mester, Ronak Y. Patel, Matthew Wright, Tong H, Jennifer L. Goldstein, Carlos Bustamante, Julianne M. O’Daniel, Xi Luo, Hannah Wand, Cheung G, Helio A. Costa, Zastrow Db, Jonathan S. Berg, Mandell Me, Sai Lakshmi Subramanian, Sharon E. Plon, Alice B. Popejoy, Arturo Lopez Pineda, Michael A. Iacocca, Marina T. DiStefano, Aleksandar Milosavljevic

المصدر: Genome Medicine
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Process (engineering), Computer science, Interface (Java), Genomics, QH426-470, Variant curation, Resource (project management), Genetics, Humans, Genetic Testing, Clinical genetics, Molecular Biology, Genetics (clinical), Genome, Human, Suite, Precision medicine, Genetic Variation, Pathogenicity, Data science, Identification (information), Workflow, Clinical Genome Resource Consortium, Medicine, Molecular Medicine, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebcfcda7df773ca429b64266180178c9
https://pubmed.ncbi.nlm.nih.gov/35039090

المؤلفون: Hosseini, SM, Kim, R, Udupa, S, Costain, G, Jobling, R, Liston, E, Jamal, SM, Szybowska, M, Morel, CF, Bowdin, S, Garcia, J, Care, M, Sturm, AC, Novelli, V, Ackerman, MJ, Ware, JS, Hershberger, RE, Wilde, AAM, Gollob, MH, NIH-Clinical Genome Resource Consortium

المساهمون: Wellcome Trust

مصطلحات موضوعية: CARDIAC SODIUM-CHANNEL, Science & Technology, Cardiac & Cardiovascular Systems, sudden death, National Institutes of Health Clinical Genome Resource Consortium, 1103 Clinical Sciences, VARIANTS, PHENOTYPE, LONG-QT, DISEASE, PREVALENCE, 1117 Public Health and Health Services, Peripheral Vascular Disease, Cardiovascular System & Hematology, Cardiovascular System & Cardiology, Brugada syndrome, genetics, CLINICAL GENOME RESOURCE, S422L, Life Sciences & Biomedicine, MUTATION, 1102 Cardiorespiratory Medicine and Haematology, POLYMORPHISMS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::162ed23b0569d47e1103dad20c999d85
http://hdl.handle.net/10044/1/61287

المؤلفون: Jean Soulier, Daniel E. Pineda-Alvarez, David Wu, Zejuan Li, Lucy A. Godley, Liying Zhang, Sharon E. Plon, Ying Wang, Anupriya Agarwal, Gabriella Ryan, Anna L. Brown, Nancy A. Speck, Kim E. Nichols, Luca Malcovati, Shruthi Mohan, Sarah A. Jackson, Panagiotis Baliakas, Xi Luo, Mark J. Routbort, Lesley Rawlings, Nikita Mehta, Justyne Ross, Sioban Keel, Minjie Luo, Chimene Kesserwan, Tom Vulliamy, Alison A. Bertuch, Shannon K. McWeeney, Courtney D. DiNardo, Simone Feurstein, Michael C. Chicka, Christopher C. Porter, Anna Raimbault, Michael Walsh

المساهمون: Luo, Xi, Feurstein, Simone, Mohan, Shruthi, Porter, Christopher C, Brown, Anna L, Godley, Lucy A

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Platelet disorder, Clinical Decision-Making, Genomics, Computational biology, Clinical Genome Resource (ClinGen), 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, Germ-Line Mutation, Genetic testing, Lymphoid Neoplasia, medicine.diagnostic_test, Molecular pathology, business.industry, Myeloid leukemia, Disease Management, Genetic Variation, Reproducibility of Results, Hematology, Minor allele frequency, ClinGen Myeloid Malignancy, 030104 developmental biology, Phenotype, Leukemia, Myeloid, 030220 oncology & carcinogenesis, Core Binding Factor Alpha 2 Subunit, Medical genetics, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34340917b50abe57ae23d2a1c334c91c
https://hdl.handle.net/11541.2/140905

المؤلفون: Iacocca, Michael A., Chora, Joana R., Carrié, Alain, Freiberger, Tomáš, Leigh, Sarah E., Defesche, Joep C., Kurtz, C. Lisa, DiStefano, Marina T., Santos, Raul D., Humphries, Steve E., Mata, Pedro, Jannes, Cinthia E., Hooper, Amanda J., Wilemon, Katherine A., Benlian, Pascale, O'Connor, Robert, Garcia, John, Wand, Hannah, Tichy, Lukáš, Sijbrands, Eric J., Hegele, Robert A., Bourbon, Mafalda, Knowles, Joshua W., on behalf of the ClinGen FH Variant Curation Expert Panel

مصطلحات موضوعية: ClinVar, Clinical Genome Resource, Familial Hypercholesterolemia, Variant Interpretation, Doenças Cardio e Cérebro-vasculares

Relation: https://doi.org/10.1002/humu.23634; Hum Mutat. 2018 Nov;39(11):1631-1640. doi:10.1002/humu.23634.; http://hdl.handle.net/10400.18/5620

الاتاحة: http://hdl.handle.net/10400.18/5620
https://doi.org/10.1002/humu.23634

المؤلفون: Robert A. Hegele, Joep C. Defesche, Pascale Benlian, Lukas Tichy, Steve E. Humphries, Robert O'Connor, Tomáš Freiberger, John Garcia, Sarah Leigh, Joshua W. Knowles, C. Lisa Kurtz, Joana Rita Chora, Pedro Mata, Alain Carrié, Michael A. Iacocca, Mafalda Bourbon, Raul D. Santos, Eric J.G. Sijbrands, Hannah Wand, Cinthia E. Jannes, Amanda J. Hooper, Marina T. DiStefano, Katherine Wilemon

المساهمون: ACS - Atherosclerosis & ischemic syndromes, Human Genetics, Internal Medicine

المصدر: Human mutation, 39(11), 1631-1640. Wiley-Liss Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 39(11), 1631-1640. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, MEDLINE, Genomics, Clinical Genome Resource, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Biology, Dna variants, Mendelian disease, computer.software_genre, Article, Doenças Cardio e Cérebro-vasculares, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Genetics, medicine, Genomic medicine, Humans, Familial Hypercholesterolemia, Genetics (clinical), Database, Genome, Human, MUTAÇÃO GENÉTICA, Genetic Variation, ClinVar, DNA, medicine.disease, Human genetics, 3. Good health, Data sharing, 030104 developmental biology, Variant Interpretation, computer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dceca33c69db29fd7aa0b8632df40416
https://pure.amc.nl/en/publications/clinvar-database-of-global-familial-hypercholesterolemiaassociated-dna-variants(15bcc06c-8fec-4210-a810-2b3d938fe062).html

المؤلفون: Patel, Ronak Y., Shah, Neethu, Jackson, Andrew R., Ghosh, Rajarshi, Pawliczek, Piotr, Paithankar, Sameer, Baker, Aaron, Riehle, Kevin, Chen, Hailin, Milosavljevic, Sofia, Bizon, Chris, Rynearson, Shawn, Nelson, Tristan, Jarvik, Gail P., Rehm, Heidi L., Harrison, Steven M., Azzariti, Danielle, Powell, Bradford, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar

مصطلحات موضوعية: Genome sequencing, Exome sequencing, Clinical genome sequencing, Clinical exome sequencing, ACMG guidelines, ClinVar, ClinGen, Clinical Genome Resource, Knowledge commons, Data commons, Data sharing, Linked Data, Big Data, edu, envir

Relation: http://nrs.harvard.edu/urn-3:HUL.InstRepos:30371049

الاتاحة: http://nrs.harvard.edu/urn-3:HUL.InstRepos:30371049

المؤلفون: Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O'Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.

المصدر: The American Journal of Human Genetics, 100(6)

مصطلحات موضوعية: ClinGen/Clinical Genome Resource, Genomics, clinical validity, Genetic Predisposition to Disease, Genetic Association Studies, biocuration, Mendelian disorders, genetic testing, evidence framework, Humans, Reproducibility of Results, gene-disease association

Relation: https://doi.org/10.17615/dtq0-px12; https://cdr.lib.unc.edu/downloads/q811kq87n?file=thumbnail; https://cdr.lib.unc.edu/downloads/q811kq87n

الاتاحة: https://doi.org/10.17615/dtq0-px12
https://cdr.lib.unc.edu/downloads/q811kq87n?file=thumbnail
https://cdr.lib.unc.edu/downloads/q811kq87n

المؤلفون: Patel, Ronak, Shah, Neethu, Jackson, Andrew, Ghosh, Rajarshi, Pawliczek, Piotr, Paithankar, Sameer, Baker, Aaron, Riehle, Kevin, Chen, Hailin, Milosavljevic, Sofia, Bizon, Chris, Rynearson, Shawn, Nelson, Tristan, Jarvik, Gail, Rehm, Heidi, Harrison, Steven, Azzariti, Danielle, Powell, Bradford, Babb, Larry, Plon, Sharon, Milosavljevic, Aleksandar, on behalf of the ClinGen Resource

مصطلحات موضوعية: Genome sequencing, Exome sequencing, Clinical genome sequencing, Clinical exome sequencing, ACMG guidelines, ClinVar, ClinGen, Clinical Genome Resource, Knowledge commons, Data commons, Data sharing, Linked Data, Big Data

Relation: http://genomemedicine.com/content/9/1/3

الاتاحة: http://genomemedicine.com/content/9/1/3