المؤلفون: Parsons, Michael T, de la Hoya, Miguel, Richardson, Marcy E, Tudini, Emma, Anderson, Michael, Berkofsky-Fessler, Windy, Caputo, Sandrine M, Chan, Raymond C, Cline, Melissa S, Feng, Bing-Jian, Fortuno, Cristina, Gomez-Garcia, Encarna, Hadler, Johanna, Hiraki, Susan, Holdren, Megan, Houdayer, Claude, Hruska, Kathleen, James, Paul, Karam, Rachid, Leong, Huei San, Martins, Alexandra, Mensenkamp, Arjen R, Monteiro, Alvaro N, Nathan, Vaishnavi, O'Connor, Robert, Pedersen, Inge Sokilde, Pesaran, Tina, Radice, Paolo, Schmidt, Gunnar, Southey, Melissa, Tavtigian, Sean, Thompson, Bryony A, Toland, Amanda E, Turnbull, Clare, Vogel, Maartje J, Weyandt, Jamie, Wiggins, George AR, Zec, Lauren, Couch, Fergus J, Walker, Logan C, Vreeswijk, Maaike PG, Goldgar, David E, Spurdle, Amanda B

المصدر: American Journal of Human Genetics. 111(9)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Women's Health, Breast Cancer, Ovarian Cancer, Cancer, Rare Diseases, Good Health and Well Being, ACMG/AMP variant curation guidelines, BRCA1, BRCA2, ClinGen, ClinVar, VCEP, Humans, BRCA2 Protein, BRCA1 Protein, Female, Genetic Variation, Breast Neoplasms, Genomics, Databases, Genetic, Ovarian Neoplasms, Genetic Predisposition to Disease, Genetic Testing, 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/36k7z52h
https://escholarship.org/content/qt36k7z52h/qt36k7z52h.pdf

المؤلفون: A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, B. Loeys, G. MacCarrick, J. Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, L. Van Laer, J. De Backer, L. Muiño-Mosquera

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Marfan syndrome, FBN1, ACMG-AMP guidelines, Variant interpretation, Variant curation, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/87697616f38742e28a4f6455d825e8e2

المؤلفون: Luo, Xi, Maciaszek, Jamie L, Thompson, Bryony A, San Leong, Huei, Dixon, Katherine, Sousa, Sónia, Anderson, Michael, Roberts, Maegan E, Lee, Kristy, Spurdle, Amanda B, Mensenkamp, Arjen R, Brannan, Terra, Pardo, Carolina, Zhang, Liying, Pesaran, Tina, Wei, Sainan, Fasaye, Grace-Ann, Kesserwan, Chimene, Shirts, Brian H, Davis, Jeremy L, Oliveira, Carla, Plon, Sharon E, Schrader, Kasmintan A, Karam, Rachid

المصدر: Journal of Medical Genetics. 60(6)

مصطلحات موضوعية: Genetics, Cancer, Good Health and Well Being, Humans, Genetic Variation, Genetic Testing, Germ-Line Mutation, Stomach Neoplasms, Germ Cells, Antigens, CD, Cadherins, Genetic Predisposition to Disease, Gastrointestinal Diseases, Medical, ClinGen CDH1 Variant Curation Expert Panel, Genetics, Medical, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8ch25635

المؤلفون: Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L, Andrade, Kelvin C, Attardi, Laura D, Crowley, Stephanie, Evans, D Gareth, Feng, Bing‐Jian, Foreman, Ann KM, Frone, Megan N, Huether, Robert, James, Paul A, McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A, Slavin, Thomas P, Witkowski, Leora, Zhang, Liying, Plon, Sharon E, Spurdle, Amanda B, Savage, Sharon A, Panel, the ClinGen TP53 Variant Curation Expert

المصدر: Human Mutation. 42(3)

مصطلحات موضوعية: Human Genome, Prevention, Genetics, Cancer, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Genetic Testing, Genetic Variation, Germ Cells, Humans, Li-Fraumeni Syndrome, Tumor Suppressor Protein p53, United States, cancer, pathogenic variant, TP53, variant curation, ClinGen TP53 Variant Curation Expert Panel, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6r4715qg

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, Lacocca, Michael A., Elnagheeb, Marwa, Kullo, Iftikhar J., Bourbon, Mafalda, on behalf of the ClinGen FH VCEP

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Familial Hypercholesterolemia, Variant Curation, Variant Classification, ClinGen, Doenças Cardio e Cérebro-vasculares

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10400.18/8967

المؤلفون: Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, Steven E. Brenner

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)

مصطلحات موضوعية: ClinVar, HGMD, Pathogenic variant, Variant curation, Variant classification, Inborn errors of metabolism, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/8ec62b805d334a6381c9b3be4c6d0095

المؤلفون: Chora, J., Iacocca, M., Elnagheeb, M., Kullo, I., Bourbon, M., on behalf of the ClinGen FH VCEP

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Familial Hypercholesterolemia, Variant Curation, Variant Classification, ClinGen, Doenças Cardio e Cérebro-vasculares

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10400.18/8965

المؤلفون: Thompson, Ashley S, Niewisch, Marena R, Giri, Neelam, McReynolds, Lisa J, Savage, Sharon A

المصدر: Am J Med Genet A ; ISSN:1552-4833 ; Volume:197 ; Issue:2

مصطلحات موضوعية: RTEL1, Hoyeraal‐Hreidarsson syndrome, dyskeratosis congenita, telomere, telomere biology disorder, variant curation

Relation: https://doi.org/10.1002/ajmg.a.63882; https://pubmed.ncbi.nlm.nih.gov/39279436

الاتاحة: https://doi.org/10.1002/ajmg.a.63882
https://pubmed.ncbi.nlm.nih.gov/39279436

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: Mirshahi, U. L., Colclough, K., Wright, C. F., Wood, A. R., Beaumont, R. N., Tyrrell, J., Laver, T. W., Stahl, R., Golden, A., Goehringer, J. M., Frayling, T. F., Hattersley, A. T., Carey, D. J., Weedon, M. N., Patel, K. A.

مصطلحات موضوعية: Humans, Penetrance, Diabetes Mellitus, Type 2/diagnosis, Cohort Studies, Prevalence, Mutation, Hepatocyte Nuclear Factor 1-alpha/genetics, Hepatocyte Nuclear Factor 4/genetics, Acmg, Gck, Hnf1a, Hnf4a, Mody, monogenic diabetes, monogenic disease, population screening, variant curation

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(22)00447-5; Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi:10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17.; https://rde.dspace-express.com/handle/11287/622693; American journal of human genetics; PMC9674944

الاتاحة: https://doi.org/10.1016/j.ajhg.2022.09.014
https://rde.dspace-express.com/handle/11287/622693

المؤلفون: Liana K. Billings, Zhuqing Shi, W. Kyle Resurreccion, Chi‐Hsiung Wang, Jun Wei, Toni I. Pollin, Miriam S. Udler, Jianfeng Xu

المصدر: Endocrinology, Diabetes & Metabolism, Vol 5, Iss 6, Pp n/a-n/a (2022)

مصطلحات موضوعية: diabetes genetics, maturity‐onset diabetes of the young, MODY, pathogenic variant, variant curation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2398-9238

URL الوصول: https://doaj.org/article/56355ec8fb674201884bb748614b43c6

المؤلفون: Chora, Joana Rita, Lacocca, Michael A., Elnagheeb, Marwa, Kullo, Iftikhar J., Bourbon, Mafalda, on behalf of the ClinGen FH VCEP

مصطلحات موضوعية: Familial Hypercholesterolemia, Variant Curation, Variant Classification, ClinGen, Doenças Cardio e Cérebro-vasculares

Relation: http://hdl.handle.net/10400.18/8967

الاتاحة: http://hdl.handle.net/10400.18/8967

المؤلفون: Chora, J., Iacocca, M., Elnagheeb, M., Kullo, I., Bourbon, M., on behalf of the ClinGen FH VCEP

مصطلحات موضوعية: Familial Hypercholesterolemia, Variant Curation, Variant Classification, ClinGen, Doenças Cardio e Cérebro-vasculares

Relation: http://hdl.handle.net/10400.18/8965

الاتاحة: http://hdl.handle.net/10400.18/8965

المؤلفون: Himmelreich, Nastassja, Montioli, Riccardo, Garbade, Sven F, Kopesky, Jeffrey, Elsea, Sarah H, Carducci, Carla, Voltattorni, Carla B, Blau, Nenad

المساهمون: Himmelreich, Nastassja, Montioli, Riccardo, Garbade, Sven F, Kopesky, Jeffrey, Elsea, Sarah H, Carducci, Carla, Voltattorni, Carla B, Blau, Nenad

مصطلحات موضوعية: pathogenicity, AADC, dopa decarboxylase, gene variant curation, locus-specific database, neurotransmitter deficiency

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36427457; info:eu-repo/semantics/altIdentifier/wos/WOS:000895932700006; volume:137; issue:4; firstpage:359; lastpage:381; numberofpages:23; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11562/1079611; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142320524; https://doi.org/10.1016/j.ymgme.2022.11.003

الاتاحة: https://hdl.handle.net/11562/1079611
https://doi.org/10.1016/j.ymgme.2022.11.003

المؤلفون: Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 13; Pages: 6723

مصطلحات موضوعية: deafblindness, inherited retinal dystrophy, retinitis pigmentosa, sensorineural hearing loss, inner ear, photoreceptor, variant curation, pathogenic variant

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22136723

الاتاحة: https://doi.org/10.3390/ijms22136723

المؤلفون: Morales, A, Ing, A, Antolik, C, Autstin-Tse, C, Baudhuin, LM, Bronicki, L, Cirino, A, Hawley, MH, Fietz, M, Garcia, J, Ho, C, Ingles, J, Jarinova, O, Johnston, T, Kelly, MA, Kurtz, CL, Lebo, M, Macaya, D, Mahanta, L, Maleszewski, J, Manrai, AK, Murray, M, Richard, G, Semsarian, C, Thomson, KL, Winder, T, Ware, J, Hershberger, RE, Funke, BH, Vatta, M, On behalf of theClinGen Cardiovascular Clinical Domain Working GroupCardiomyopathy Variant Curation Expert Panel

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: 598 ; 589

مصطلحات موضوعية: ClinGen Cardiovascular Clinical Domain Working Group, Cardiomyopathy Variant Curation Expert Panel, Pathology, 1108 Medical Microbiology

Relation: The Journal of Molecular Diagnostics; http://hdl.handle.net/10044/1/87301; 107469/Z/15/Z; RE/18/4/34215; 200990/A/16/Z

الاتاحة: http://hdl.handle.net/10044/1/87301
https://doi.org/10.1016/j.jmoldx.2021.01.014

المؤلفون: Villani, Rehan, Spurdle, Amanda

المساهمون: Villani, Rehan, Spurdle, Amanda, Rubin, Alan F, Starita, Lea, Tudini, Emma, Terrill, Bronwyn N, Christodoulou, John, McEwen, Abbye E, Hahn, Christopher N, Cliffe, Corrina, Mattiske, Tessa, Mattek, Ebony, Lundie, Ben, Chan, Eva KF, Brown, Anna, Breen, James, Wise, Cheryl, Lunke, Sebastian, Nickerson, Sarah, Fowler, Douglas

مصطلحات موضوعية: Genetics, Functional analysis, Medical genetics, Functional evidence, Education, Variant curation, Functional assay

Relation: https://zenodo.org/communities/varianteffect; https://doi.org/10.5281/zenodo.13131423; https://doi.org/10.5281/zenodo.13131424; oai:zenodo.org:13131424

الاتاحة: https://doi.org/10.5281/zenodo.13131424

المؤلفون: Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan, on behalf of the ClinGen Somatic Cancer Working Group

المصدر: Genome Medicine, Vol 8, Iss 1, Pp 1-9 (2016)

مصطلحات موضوعية: Cancer genomics, Somatic variant interpretation, Data standard, Somatic variant curation, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-016-0367-z; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/6ef4b9fea20b4dbbbfc2a9f4940e7437

المؤلفون: Niles Nelson, Simone Feurstein, Aram Niaz, Jia Quyen Truong, Jessica Holien

مصطلحات موضوعية: Genetics not elsewhere classified, ACMG/AMP criteria, Direct telomerase assay, Germline variant curation, Telomere biology disorder, Telomeric repeat amplification protocol

Relation: 10779/rmit.27573639.v1; https://figshare.com/articles/journal_contribution/Functional_genomics_for_curation_of_variants_in_telomere_biology_disorder_associated_genes_A_systematic_review/27573639

الاتاحة: https://figshare.com/articles/journal_contribution/Functional_genomics_for_curation_of_variants_in_telomere_biology_disorder_associated_genes_A_systematic_review/27573639