المؤلفون: Spier, I, Yin, X, Richardson, M, Pineda, M, Laner, A, Ritter, D, Boyle, J, Mur, P, Hansen, TVO, Shi, X, Mahmood, K, Plazzer, J-P, Ognedal, E, Nordling, M, Farrington, SM, Yamamoto, G, Baert-Desurmont, S, Martins, A, Borras, E, Tops, C, Webb, E, Beshay, V, Genuardi, M, Pesaran, T, Capella, G, Tavtigian, S, Latchford, A, Frayling, IM, Plon, SE, Greenblatt, M, Macrae, FA, Aretz, S

العلاقة: pii: S1098-3600(23)01008-0; Spier, I., Yin, X., Richardson, M., Pineda, M., Laner, A., Ritter, D., Boyle, J., Mur, P., Hansen, T. V. O., Shi, X., Mahmood, K., Plazzer, J. -P., Ognedal, E., Nordling, M., Farrington, S. M., Yamamoto, G., Baert-Desurmont, S., Martins, A., Borras, E. ,. Aretz, S. (2024). Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/ Polyposis Variant Curation Expert Panel. GENETICS IN MEDICINE, 26 (2), https://doi.org/10.1016/j.gim.2023.100992Test.; http://hdl.handle.net/11343/339750Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.100992Test
http://hdl.handle.net/11343/339750Test

المؤلفون: de la Hoya, M, Soukarieh, O, Lopez-Perolio, I, Vega, A, Walker, LC, van Ierland, Y, Baralle, D, Santamarina, M, Lattimore, V, Wijnen, J, Whiley, P, Blanco, A, Raponi, M, Hauke, J, Wappenschmidt, B, Becker, A, Hansen, TVO, Behar, R, Niederacher, D, Arnold, N, Dworniczak, B, Steinemann, D, Faust, U, Rubinstein, W, Hulick, PJ, Houdayer, C, Caputo, SM, Castera, L, Pesaran, T, Chao, E, Brewer, C, Southey, MC, van Asperen, CJ, Singer, CF, Sullivan, J, Poplawski, N, Mai, P, Peto, J, Johnson, N, Burwinkel, B, Surowy, H, Bojesen, SE, Flyger, H, Lindblom, A, Margolin, S, Chang-Claude, J, Rudolph, A, Radice, P, Galastri, L, Olson, JE, Hallberg, E, Giles, G, Milne, RL, Andrulis, IL, Glendon, G, Hall, P, Czene, K, Blows, F, Shah, M, Wang, Q, Dennis, J, Michailidou, K, McGuffog, L, Bolla, MK, Antoniou, AC, Easton, DF, Couch, FJ, Tavtigian, S, Vreeswijk, MP, Parsons, M, Meeks, HD, Martins, A, Goldgar, DE, Spurdle, AB

المصدر: Human molecular genetics. 25(11):2256-2268

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:134659880Test

المؤلفون: Chora, J.R., Iacocca, M., Tichy, L., Wand, H., Kurtz, L.C., Zimmermann, H., Meredith, A.L., Williams, M., Humphries, S.E., Hooper, A.J., Brunham, L., Pereira, A.C., Chen, M., Wang, J., Trinder, M., Jannes, C.E., Chonis, J., Kim, S., Pesaran, T., Johnston, T., Carrie, A., Leigh, S., Hegele, R.A., Sijbrands, E., Freiberger, T., Knowles, J.W., Bourbon, M.

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Familial Hypercholesterolemia, Recommendations, LDLR Variant, Doenças Cardio e Cérebro-vasculares

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/7716Test

المؤلفون: Iversen, ES, Lipton, G, Hart, SN, Lee, KY, Hu, C, Polley, EC, Pesaran, T, Yussuf, A, LaDuca, H, Chao, E, Karam, R, Goldgar, DE, Couch, FJ, Monteiro, ANA

العلاقة: pii: 10.1038/s41525-022-00302-3; Iversen, E. S., Lipton, G., Hart, S. N., Lee, K. Y., Hu, C., Polley, E. C., Pesaran, T., Yussuf, A., LaDuca, H., Chao, E., Karam, R., Goldgar, D. E., Couch, F. J. & Monteiro, A. N. A. (2022). An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance. NPJ Genom Med, 7 (1), pp.35-. https://doi.org/10.1038/s41525-022-00302-3Test.; http://hdl.handle.net/11343/316353Test

الإتاحة: https://doi.org/10.1038/s41525-022-00302-3Test
http://hdl.handle.net/11343/316353Test

المؤلفون: Garrett, A, Loveday, C, King, L, Butler, S, Robinson, R, Horton, C, Yussuf, A, Choi, S, Torr, B, Durkie, M, Burghel, GJ, Drummond, J, Berry, I, Wallace, A, Callaway, A, Eccles, D, Tischkowitz, M, Tatton-Brown, K, Snape, K, McVeigh, T, Izatt, L, Woodward, ER, Burnichon, N, Gimenez-Roqueplo, A-P, Mazzarotto, F, Whiffin, N, Ware, J, Hanson, H, Pesaran, T, LaDuca, H, Buffet, A, Maher, ER, Turnbull, C, Cancer Variant Interpretation Group UK (CanVIG-UK)

وصف الملف: application/pdf; application/vnd.ms-excel

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113968/1/1-s2.0-S1098360021011187-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113968/7/1-s2.0-S1098360021011187-mmc1.xlsxTest; Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; Horton, C; Yussuf, A; Choi, S; Torr, B; Durkie, M; et al. Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; Horton, C; Yussuf, A; Choi, S; Torr, B; Durkie, M; Burghel, GJ; Drummond, J; Berry, I; Wallace, A; Callaway, A; Eccles, D; Tischkowitz, M; Tatton-Brown, K; Snape, K; McVeigh, T; Izatt, L; Woodward, ER; Burnichon, N; Gimenez-Roqueplo, A-P; Mazzarotto, F; Whiffin, N; Ware, J; Hanson, H; Pesaran, T; LaDuca, H; Buffet, A; Maher, ER; Turnbull, C; Cancer Variant Interpretation Group UK (CanVIG-UK) (2022) Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genet Med, 24 (1). pp. 41-50. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2021.08.004Test SGUL Authors: Snape, Katie Mairwen Greenwood

الإتاحة: https://doi.org/10.1016/j.gim.2021.08.004Test
https://openaccess.sgul.ac.uk/id/eprint/113968Test/
https://openaccess.sgul.ac.uk/id/eprint/113968/1/1-s2.0-S1098360021011187-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113968/7/1-s2.0-S1098360021011187-mmc1.xlsxTest

المؤلفون: Yadav, S, LaDuca, H, Polley, EC, Hu, C, Niguidula, N, Shimelis, H, Lilyquist, J, Na, J, Lee, KY, Gutierrez, S, Yussuf, A, Hart, SN, Davis, BT, Chao, EC, Pesaran, T, Goldgar, DE, Dolinsky, JS, Couch, FJ

العلاقة: pii: 5955835; Yadav, S., LaDuca, H., Polley, E. C., Hu, C., Niguidula, N., Shimelis, H., Lilyquist, J., Na, J., Lee, K. Y., Gutierrez, S., Yussuf, A., Hart, S. N., Davis, B. T., Chao, E. C., Pesaran, T., Goldgar, D. E., Dolinsky, J. S. & Couch, F. J. (2021). Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer. JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 113 (10), pp.1429-1433. https://doi.org/10.1093/jnci/djaa167Test.; http://hdl.handle.net/11343/304860Test

الإتاحة: https://doi.org/10.1093/jnci/djaa167Test
http://hdl.handle.net/11343/304860Test

المؤلفون: Richardson, ME, Hu, C, Lee, KY, LaDuca, H, Fulk, K, Durda, KM, Deckman, AM, Goldgar, DE, Monteiro, ANA, Gnanaolivu, R, Hart, SN, Polley, EC, Chao, E, Pesaran, T, Couch, FJ

العلاقة: pii: S0002-9297(21)00047-1; Richardson, M. E., Hu, C., Lee, K. Y., LaDuca, H., Fulk, K., Durda, K. M., Deckman, A. M., Goldgar, D. E., Monteiro, A. N. A., Gnanaolivu, R., Hart, S. N., Polley, E. C., Chao, E., Pesaran, T. & Couch, F. J. (2021). Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. AMERICAN JOURNAL OF HUMAN GENETICS, 108 (3), pp.458-468. https://doi.org/10.1016/j.ajhg.2021.02.005Test.; http://hdl.handle.net/11343/304853Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.02.005Test
http://hdl.handle.net/11343/304853Test

المؤلفون: Garrett, A, Loveday, C, King, L, Butler, S, Robinson, R, Horton, C, Yussuf, A, Choi, S, Torr, B, Durkie, M, Burghel, GJ, Drummond, J, Berry, I, Wallace, A, Callaway, A, Eccles, D, Tischkowitz, M, Tatton-Brown, K, Snape, K, McVeigh, T, Izatt, L, Woodward, ER, Burnichon, N, Gimenez-Roqueplo, A-P, Mazzarotto, F, Whiffin, N, Ware, J, Hanson, H, Pesaran, T, LaDuca, H, Buffet, A, Maher, ER, Turnbull, C, Cancer Variant Interpretation Group UK (CanVIG-UK)

المساهمون: British Heart Foundation, Wellcome Trust

المصدر: 50 ; 41

مصطلحات موضوعية: Cancer, Germline, SDHB, SDHD, Variant interpretation, Cancer Variant Interpretation Group UK (CanVIG-UK), Genetics & Heredity, 0604 Genetics, 1103 Clinical Sciences

جغرافية الموضوع: United States

العلاقة: Genetics in Medicine; http://hdl.handle.net/10044/1/95212Test; RE/18/4/34215; 107469/Z/15/Z; 200990/A/16/Z

الإتاحة: https://doi.org/10.1016/j.gim.2021.08.004Test
http://hdl.handle.net/10044/1/95212Test

المؤلفون: Thomassen, M., Mesman, R.L.S., Hansen, T.V.O., Menendez, M., Rossing, M., Esteban-Sanchez, A., Tudini, E., Torngren, T., Parsons, M.T., Pedersen, I.S., Teo, S.H., Kruse, T.A., Moller, P., Borg, A., Jensen, U.B., Christensen, L.L., Singer, C.F., Muhr, D., Santamarina, M., Brandao, R., Andresen, B.S., Feng, B.J., Canson, D., Richardson, M.E., Karam, R., Pesaran, T., LaDuca, H., Conner, B.R., Abualkheir, N., Hoang, L., Calleja, F.M.G.R., Andrews, L., James, P.A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D.E., Walker, L.C., Engel, C., Claes, K.B.M., Machackova, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M.P.G., Hoya, M. de la, Spurdle, A.B., ENIGMA Consortium

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica

المصدر: HUMAN MUTATION
Human Mutation: Variation, Informatics and Disease, 43(12), 1921-1944. WILEY-HINDAWI
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449Test
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449Test
Human Mutation, 43(12), 1921-1944. Wiley
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, ENIGMA consortium, Vreeswijk, M P G, de la Hoya, M & Spurdle, A B 2022, ' Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449Test

مصطلحات موضوعية: splicing, AMP classification, quantitation, ACMG/AMP classification, dPCR, ACMG, Medicine and Health Sciences, Genetics, Biology and Life Sciences, BRCA2, Genetics (clinical), functional analysis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efdcb327400da54193715f5122a2d7c3Test
https://doi.org/10.1002/humu.24449Test

المؤلفون: LaDuca, H, Polley, EC, Yussuf, A, Hoang, L, Gutierrez, S, Hart, SN, Yadav, S, Hu, C, Na, J, Goldgar, DE, Fulk, K, Smith, LP, Horton, C, Profato, J, Pesaran, T, Gau, C-L, Pronold, M, Davis, BT, Chao, EC, Couch, FJ, Dolinsky, JS

العلاقة: pii: S1098-3600(21)01274-0; LaDuca, H., Polley, E. C., Yussuf, A., Hoang, L., Gutierrez, S., Hart, S. N., Yadav, S., Hu, C., Na, J., Goldgar, D. E., Fulk, K., Smith, L. P., Horton, C., Profato, J., Pesaran, T., Gau, C. -L., Pronold, M., Davis, B. T., Chao, E. C. ,. Dolinsky, J. S. (2020). A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. GENETICS IN MEDICINE, 22 (2), pp.407-415. https://doi.org/10.1038/s41436-019-0633-8Test.; http://hdl.handle.net/11343/304857Test

الإتاحة: https://doi.org/10.1038/s41436-019-0633-8Test
http://hdl.handle.net/11343/304857Test