المؤلفون: Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle

المصدر: Human Genomics, Vol 19, Iss 1, Pp 1-15 (2025)

مصطلحات موضوعية: TP53, Splicing, SpliceAI, PVS1, VCEP specifications, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/ec06ea635fa04ad19f00e30e662d0526

المؤلفون: Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing‐Jian Feng, Courtney Carroll, Michael T. Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Elena Barbieri, Francesca Vignolo Lutati, Jacopo Azzolini, Rita Danesi, Valentina Arcangeli, Sandrine M. Caputo, Nadia Boutry‐Kryza, Vincent Goussot, Susan Hiraki, Marcy Richardson, Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet), Simona Ferrari, Paolo Radice, Amanda B. Spurdle, Daniela Turchetti

المصدر: Cancer Medicine, Vol 13, Iss 16, Pp n/a-n/a (2024)

مصطلحات موضوعية: BRCA1, breast cancer, cancer risk, classification, clinical management, ovarian cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-7634

URL الوصول: https://doaj.org/article/32f976e151b24f91bbf40981195926b1

المؤلفون: Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed, Hilda A. Pickett, Mohammad K. Al-Shinnag, Rachel L. Austin, Jo Burke, Elisa J. Cops, Cassandra B. Nichols, Annabel Goodwin, Marion T. Harris, Megan J. Higgins, Emilia L. Ip, Catherine Kiraly-Borri, Chiyan Lau, Julia L. Mansour, Michael W. Millward, Melissa J. Monnik, Nicholas S. Pachter, Abiramy Ragunathan, Rachel D. Susman, Sharron L. Townshend, Alison H. Trainer, Simon L. Troth, Katherine M. Tucker, Mathew J. Wallis, Maie Walsh, Rachel A. Williams, Ingrid M. Winship, Felicity Newell, Emma Tudini, John V. Pearson, Nicola K. Poplawski, Helen G. Mar Fan, Paul A. James, Amanda B. Spurdle, Nicola Waddell, Robyn L. Ward

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Familial cancer, Genetics, Variants, Whole-genome sequencing, Diagnostic testing, Health economics, Medicine, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/e7517b7792c7450392b54b67bde9ca87

المؤلفون: Nitsan Rotenberg, Lobna Ramadane-Morchadi, Matthew Varga, Adam Chamberlin, Marcy Richardson, Cristina Fortuno, Miguel de la Hoya, Amanda Spurdle

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101594- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424007404; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/ae4340a7bd7b4f92aa13556bd9759901

المؤلفون: Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuno, Anna González-Neira, Stephan M. Heijl, Muriel A. Adank, Thomas U. Ahearn, Irene L. Andrulis, Päivi Auvinen, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Michael Bremer, Ignacio Briceno, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Georgia Chenevix-Trench, NBCS Collaborators, J. Margriet Collée, Kamila Czene, Joe Dennis, Thilo Dörk, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G. Giles, Gord Glendon, Pascal Guénel, Melanie Gündert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Elaine F. Harkness, Mikael Hartman, Frans B. L. Hogervorst, Antoinette Hollestelle, Reiner Hoppe, Anthony Howell, kConFab Investigators, SGBCC Investigators, Anna Jakubowska, Audrey Jung, Elza Khusnutdinova, Sung-Won Kim, Yon-Dschun Ko, Vessela N. Kristensen, Inge M. M. Lakeman, Jingmei Li, Annika Lindblom, Maria A. Loizidou, Artitaya Lophatananon, Jan Lubiński, Craig Luccarini, Michael J. Madsen, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Dimitrios Mavroudis, Roger L. Milne, Nur Aishah Mohd Taib, Kenneth Muir, Heli Nevanlinna, William G. Newman, Jan C. Oosterwijk, Sue K. Park, Paolo Peterlongo, Paolo Radice, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Xueling Sim, Melissa C. Southey, Harald Surowy, Maija Suvanto, Ian Tomlinson, Diana Torres, Thérèse Truong, Christi J. van Asperen, Regina Waltes, Qin Wang, Xiaohong R. Yang, Paul D. P. Pharoah, Marjanka K. Schmidt, Javier Benitez, Bas Vroling, Alison M. Dunning, Soo Hwang Teo, Anders Kvist, Miguel de la Hoya, Peter Devilee, Amanda B. Spurdle, Maaike P. G. Vreeswijk, Douglas F. Easton

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Breast cancer, Genetic epidemiology, Risk prediction, Missense variants, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/45c3e08cffb0447d8b0bfc7a2f10352e

المؤلفون: Renata L Sandoval, Michele Bottosso 3 4, Li Tianyu 5, Natalia Polidorio 6, Brittany L Bychkovsky 2 7 8 9, Benjamin Verret 4, Alessandra Gennari, Sophie Cahill 2, Maria Isabel Achatz 11, Olivier Caron 12, Marion Imbert-Bouteille 13, Catherine Noguès 14 15, Kara N Mawell 16, Cristina Fortuno 17, Amanda B Spurdle 17, Nabihah Tayob 5 9, Fabrice Andre 4, Judy E Garber

المساهمون: L Sandoval, Renata, 3 4, Michele Bottosso, 5, Li Tianyu, 6, Natalia Polidorio, L Bychkovsky 2 7 8 9, Brittany, 4, Benjamin Verret, Gennari, Alessandra, 2, Sophie Cahill, Isabel Achatz 11, Maria, Caron 12, Olivier, Imbert-Bouteille 13, Marion, Noguès 14 15, Catherine, N Mawell 16, Kara, Fortuno 17, Cristina, B Spurdle 17, Amanda, 5 9, Nabihah Tayob, 4, Fabrice Andre, E Garber, Judy

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001215779800001; journal:JOURNAL OF THE NATIONAL CANCER INSTITUTE; https://hdl.handle.net/11579/179462

الاتاحة: https://hdl.handle.net/11579/179462
https://doi.org/10.1093/jnci/djae074

المؤلفون: Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees‐Stuivenberg, Mark Drost, Bryony Thompson, Amanda B. Spurdle, Niels de Wind

المساهمون: Clinical Genetics

المصدر: Human Mutation: Variation, Informatics and Disease, 43(9), 1249-1258. WILEY
Human Mutation, 43(9), 1249-1258. Wiley-Liss Inc.

مصطلحات موضوعية: variants of uncertain significance, DNA mismatch repair, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA-Binding Proteins, MutS Homolog 2 Protein, Lynch syndrome, PMS2, SDG 3 - Good Health and Well-being, Genetics, Humans, Genetic Testing, MutL Protein Homolog 1, diagnostic assessment, functional analysis-based classification, Genetics (clinical), Mismatch Repair Endonuclease PMS2

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ec2056b4957075ebe626b0d9fa110d
http://www.scopus.com/inward/record.url?scp=85128910091&partnerID=8YFLogxK

المؤلفون: Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen

المساهمون: Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Schreiber, Andreas W, James, U, Shariant Consortium

المصدر: Am J Hum Genet

مصطلحات موضوعية: genomic variant, variant interpretations, Databases, Genetic, Technology Review, Genetics, Australia, Humans, Genetic Variation, Genetic Testing, Laboratories, Genetics (clinical), Australian laboratories

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://pubmed.ncbi.nlm.nih.gov/36332611

المؤلفون: Jill S. Dolinsky, Jessica L. Mester, Paul A. James, Tina Pesaran, Amal Yussuf, Cristina Fortuno, Amanda B. Spurdle, Kelly McGoldrick

المصدر: Cancer Genetics. :11-17

مصطلحات موضوعية: Adult, Male, Proband, Cancer Research, Biology, Germline, Li-Fraumeni Syndrome, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Neoplasms, Genotype, Biomarkers, Tumor, Genetics, Humans, Missense mutation, Genetic Testing, Molecular Biology, Survival rate, Gene, Genetic Association Studies, Germ-Line Mutation, Clinical study design, Prognosis, Survival Rate, 030220 oncology & carcinogenesis, Female, Tumor Suppressor Protein p53

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ebd1e7d01d967f7f8893dd0a225376
https://doi.org/10.1016/j.cancergen.2020.09.002

المؤلفون: Paul A. James, Cristina Fortuno, Na Li, Belle W. X. Lim, Ian G. Campbell, Amanda B. Spurdle

المصدر: Human mutationREFERENCES. 43(7)

مصطلحات موضوعية: Likelihood Functions, Calibration, Genetics, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Pathology, Molecular, Genetics (clinical), Adenosine Monophosphate

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d078a5c9de015467f5371d25b3c3fa9
https://pubmed.ncbi.nlm.nih.gov/35191126

المؤلفون: Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees-Stuivenberg, Mark Drost, Bryony Thompson, Amanda Spurdle, Niels de Wind

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, digestive system diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::72a9f5958ef5ba812299a7b8744f09e6
https://doi.org/10.22541/au.163772741.15317643/v1

المؤلفون: Douglas F. Easton, Manuela Gago-Dominguez, Marina Bermisheva, Marike Gabrielson, Michael J. Madsen, Antoinette Hollestelle, Joe Dennis, Roger L. Milne, Per Hall, Andreas Hadjisavvas, Muriel A. Adank, Melissa C. Southey, Anthony Howell, Qin Wang, Thilo Dörk, Elza Khusnutdinova, Nicola J. Camp, Miguel de la Hoya, Pascal Guénel, Archie Campbell, Gord Glendon, Javier Benitez, Sgbcc Investigators, Manjeet K. Bolla, Jonine D. Figueroa, Paolo Radice, Maaike P.G. Vreeswijk, William G. Newman, Soo Hwang Teo, Anna Jakubowska, Paul D.P. Pharoah, Sara Margolin, Thomas U. Ahearn, Mitul Shah, Eric Hahnen, Matthias W. Beckmann, Dimitrios Mavroudis, Elinor J. Sawyer, Paolo Peterlongo, Artitaya Lophatananon, Melanie Gündert, Maria A. Loizidou, Xueling Sim, Irene L. Andrulis, Ignacio Briceño, Mehdi Manoochehri, Rita K. Schmutzler, Maija Suvanto, Sara Carvalho, Amanda B. Spurdle, Georgia Chenevix-Trench, Marjanka K. Schmidt, Graham G. Giles, Peter A. Fasching, Inge M. M. Lakeman, Vessela N. Kristensen, Leila Dorling, Annika Lindblom, Harald Surowy, Jan C. Oosterwijk, Diana Torres, Nur Aishah Taib, Xiaohong R. Yang, D. Gareth Evans, Päivi Auvinen, Heli Nevanlinna, Sabine Behrens, Arto Mannermaa, Christi J. van Asperen, Anna González-Neira, Ian Tomlinson, Thérèse Truong, Heiko Becher, J. Margriet Collée, Jenny Chang-Claude, Mikael Hartman, Michael T. Parsons, Jamie Allen, Henrik Flyger, Sue K. Park, Craig Luccarini, Sung-Won Kim, Stephan M. Heijl, Montserrat Garcia-Closas, Cristina Fortuno, Jingmei Li, Peter Devilee, Yon-Dschun Ko, Reiner Hoppe, Stig E. Bojesen, Regina Waltes, Frans B. L. Hogervorst, Alison M. Dunning, Kenneth Muir, Mikael Eriksson, Bas Vroling, Jan Lubinski, Jose E. Castelao, Stephen J. Chanock, Natalia Bogdanova, Anders Kvist, Michael Bremer, Emmanouil Saloustros, Kamila Czene, kConFab Investigators, Elaine F. Harkness, Audrey Y. Jung, Ute Hamann

مصطلحات موضوعية: Genetics, 0303 health sciences, PALB2, Biology, medicine.disease, Logistic regression, Lower risk, Breast cancer susceptibility genes, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, 030220 oncology & carcinogenesis, medicine, Missense mutation, CHEK2, Gene, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6a24075c2663579276f6ee62770dd244
https://doi.org/10.1101/2021.09.02.21262369

المؤلفون: David E. Goldgar, Paul A. James, Amal Yussuf, Cristina Fortuno, Jill S. Dolinsky, Amanda B. Spurdle, Kelly McGoldrick, Tina Pesaran

المصدر: Human Mutation. 41:537-542

مصطلحات موضوعية: Proband, medicine.medical_specialty, Clinical Decision-Making, Genomics, Disease, Biology, Bioinformatics, Affect (psychology), 03 medical and health sciences, Neoplasms, Odds Ratio, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Gene, Alleles, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Molecular pathology, 030305 genetics & heredity, Disease Management, Genetic Variation, Phenotype, United States, Practice Guidelines as Topic, Medical genetics, Tumor Suppressor Protein p53

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8a8a536a53da61d73f8504766ae00ac
https://doi.org/10.1002/humu.23972

المؤلفون: Paul A. James, Amanda B. Spurdle, Victoria Beshay, Jill S. Dolinsky, Jeffrey N. Weitzel, Kelly McGoldrick, Tina Pesaran, Huei San Leong, Lily Hoang, Cristina Fortuno

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(3)

مصطلحات موضوعية: Genetics, Functional assay, Clonal hematopoiesis, Variant allele, Biology, Pathogenicity, Germline, Humans, Genetic Predisposition to Disease, Clonal Hematopoiesis, Tumor Suppressor Protein p53, Gene, Genetics (clinical), Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a782c99759c7d648e5004c6c987bab98
https://pubmed.ncbi.nlm.nih.gov/34906512

المؤلفون: Jill S. Dolinsky, Tina Pesaran, Paul A. James, David E. Goldgar, Amanda B. Spurdle, Amal Yussuf, Cristina Fortuno, Sean V. Tavtigian, Kelly McGoldrick

المصدر: Human mutationREFERENCES. 42(10)

مصطلحات موضوعية: education.field_of_study, Population, Mutation, Missense, Computational biology, Biology, Middle Aged, Genes, p53, Germline, Quantitative model, Li-Fraumeni Syndrome, Annotation, RNA splicing, Genetics, Missense mutation, Humans, Genetic Predisposition to Disease, Tumor Suppressor Protein p53, education, Allele frequency, Gene, Genetics (clinical), Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37323adaa6d5bd32efbd5a78f158f883
https://pubmed.ncbi.nlm.nih.gov/34273903

المؤلفون: Ana Catarina Alves, Christina Anne Austin-Tse, Mafalda Bourbon, Marcelo A. Carvalho, Ozge Ceyhan-Birsoy, George S. Charames, Joana Rita Chora, Mara Colombo, Xavier de la Cruz, Johan T. den Dunnen, Niels de Wind, Orland Diez, Anna B.R. Elias, D Gareth Evans, Lidia Feliubadaló, Vanessa C. Fernandes, Ivo F.A.C. Fokkema, Cristina Fortuno, Alice Garrett, Paolo Gasparini, Giorgia Girotto, Anna González-Neira, Karen W. Gripp, Sara Gutiérrez-Enríquez, Steven M. Harrison, Miguel de la Hoya, Jodie Ingles, Renee Johnson, Jordan Lerner-Ellis, Harvey Levy, Conxi Lázaro, Heather Mason-Suares, Ana Margarida Medeiros, Jessica L. Mester, Alejandro Moles-Fernández, Alvaro N.A. Monteiro, Anna Morgan, Thales C. Nepomuceno, Rocío Núñez-Torres, Selen Özkan, Natàlia Padilla, Michael T. Parsons, Tina F. Pesaran, Marta Pineda, Paolo Radice, Farrah Rajabi, Ebony Richardson, Peter Sabatini, Stephanie Sacharow, Amanda Spurdle, Bryony A. Thompson, Emma Tudini, Clare Turnbull, Lisa M. Vincent, Michael F. Walsh, Nicholas Watkins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f994cfd2699d7dc17cf4ee5821374fc9
https://doi.org/10.1016/b978-0-12-820519-8.01002-4

المؤلفون: Bryony A. Thompson, Cristina Fortuno

مصطلحات موضوعية: medicine.medical_specialty, Computer science, Prior probability, Posterior probability, medicine, Medical genetics, Genomics, Computational biology, Bayesian inference, Categorical variable, Data type, Odds

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b9c0f1e2ccb272726c95254f27148ae6
https://doi.org/10.1016/b978-0-12-820519-8.00001-6

المؤلفون: Cristina Fortuno Moya

مصطلحات موضوعية: Genetics, Action (philosophy), Biology, Gene, Germline

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b7f5c3c5950d08fa280831d94f31c08a
https://doi.org/10.14264/8eb4b92

المؤلفون: Paul A. James, Tina Pesaran, Bing Feng, Erin L. Young, Cristina Fortuno, Sean V. Tavtigian, Magali Olivier, Amanda B. Spurdle

المصدر: Human Mutation. 39:1061-1069

مصطلحات موضوعية: 0301 basic medicine, In silico, Mutation, Missense, Computational Biology, Computational biology, Biology, Pathogenicity, Matthews correlation coefficient, Ensemble learning, Article, 03 medical and health sciences, Strength of evidence, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genetics, Humans, Missense mutation, Overall performance, Tumor Suppressor Protein p53, Software, Genetics (clinical), Selection (genetic algorithm)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f25eee60e3a1406bacf219bf43f298ce
https://doi.org/10.1002/humu.23553

المؤلفون: Maria Isabel Achatz, Kara N. Maxwell, Jill S. Dolinsky, Sharon A. Savage, D. Gareth Evans, Kelly McGoldrick, Jessica L. Mester, Amanda B. Spurdle, Judy Garber, Kim E Nichols, Paul A. James, Jeffrey N. Weitzel, Amal Yussuf, Cristina Fortuno, Tina Pesaran, Payal P. Khincha, Joshua D. Schiffman, Renata Lazari Sandoval

المصدر: Hum Mutat

مصطلحات موضوعية: Oncology, Adult, medicine.medical_specialty, Receptor, ErbB-2, Genomics, Breast Neoplasms, Guidelines as Topic, Biology, Malignancy, Germline, Article, 03 medical and health sciences, Breast cancer, Internal medicine, Genetics, medicine, Humans, skin and connective tissue diseases, neoplasms, Genetics (clinical), Germ-Line Mutation, 030304 developmental biology, 0303 health sciences, Molecular pathology, 030305 genetics & heredity, Cancer, Middle Aged, medicine.disease, Phenotype, Medical genetics, Female, Tumor Suppressor Protein p53

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605e6309a54b141c4053f1261f2f4cbe
https://pubmed.ncbi.nlm.nih.gov/32485079