المؤلفون: David E. Goldgar, Sophie Belman, Bing Jian Feng, Amanda B. Spurdle, Michael T. Parsons

المصدر: Genetics in Medicine. 22:2052-2059

مصطلحات موضوعية: 0301 basic medicine, education.field_of_study, medicine.medical_specialty, medicine.diagnostic_test, Cosegregation, Computer science, Population, Genomics, Bayes factor, Computational biology, 030105 genetics & heredity, Penetrance, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, medicine, Mendelian inheritance, symbols, Medical genetics, education, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a129a0602a7b38340a9e49f5b0eb484Test
https://doi.org/10.1038/s41436-020-0920-4Test

المؤلفون: Bing Jian Feng, Kathleen A. Cooney, Samantha Greenberg, Lisa A. Cannon-Albright, Timothy J. Parnell, Ashley L. Kapron, Neeraj Agarwal, Craig C. Teerlink, Benjamin L. Maughan, Andrew W. Hahn, Wendy Kohlmann, Julie L Boyle

المصدر: JCO Precis Oncol

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, DNA repair, business.industry, Incidence (epidemiology), Susceptibility gene, Biology, medicine.disease, Germline, 03 medical and health sciences, Prostate cancer, 030104 developmental biology, 0302 clinical medicine, Text mining, Oncology, CDKN2A, 030220 oncology & carcinogenesis, Original Reports, medicine, Cancer research, business, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae2dfbf317f2c47388511e770a99a8eTest
https://europepmc.org/articles/PMC7446531Test/

المؤلفون: Yao Yu, Bryony A. Thompson, Sara Johnson, Sean V. Tavtigian, Deborah W. Neklason, Craig C. Teerlink, Bing Jian Feng, Angela K. Snow, Chad D. Huff, Cathryn Koptiuch, Wendy Kohlmann, Ryan Mooney, Lisa A. Cannon-Albright

المصدر: Clinical genetics. 97(6)

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Ribosomal Proteins, Colorectal cancer, 030105 genetics & heredity, Biology, 03 medical and health sciences, Ribosomal protein, Genetics, medicine, Humans, splice, Genetic Predisposition to Disease, Gene, Genetics (clinical), Cancer, Middle Aged, medicine.disease, Phenotype, digestive system diseases, Pedigree, 030104 developmental biology, Female, RNA Splice Sites, Haploinsufficiency, Colorectal Neoplasms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3981b4ebda35b33bed1032a4d844eea1Test
https://pubmed.ncbi.nlm.nih.gov/32424863Test

المؤلفون: Yishuo Wu, Siqun Lilly Zheng, William B. Isaacs, Julie L. Boyle, Charles M. Ewing, Bing Jian Feng, Ashley L. Kapron, Zhuqing Shi, H.B. Carter, Hongjie Yu, Rong Na, Sameep Shah, Jianfeng Xu, Patrick C. Walsh, Kathleen E. Wiley, Jun Luo, Brian T. Helfand, Kathleen A. Cooney

المصدر: The Prostate. 78:1222-1228

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Genotype, Urology, Germline, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Germline mutation, Mutation Carrier, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Exome, Germ-Line Mutation, Survival analysis, Aged, Retrospective Studies, business.industry, Intracellular Signaling Peptides and Proteins, Prostate, Membrane Proteins, Prostatic Neoplasms, Odds ratio, Middle Aged, Prognosis, medicine.disease, Survival Analysis, Survival Rate, 030104 developmental biology, 030220 oncology & carcinogenesis, Population study, Carrier Proteins, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b6a1709fe5e9d009f4149e5ad211f35Test
https://doi.org/10.1002/pros.23697Test

المؤلفون: Bing Jian Feng

المصدر: Human Mutation. 38:243-251

مصطلحات موضوعية: 0301 basic medicine, Phenocopy, Genetics, medicine.diagnostic_test, Pedigree chart, Computational biology, Biology, Penetrance, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Missing heritability problem, Quality Score, Mutation (genetic algorithm), medicine, Allele frequency, 030217 neurology & neurosurgery, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::511cccd206e494b3a9a3b27e910dc44dTest
https://doi.org/10.1002/humu.23158Test

المؤلفون: Margaret Akinhanmi, Brigette Tippin Davis, Priyanka Sharma, Drakoulis Yannoukakos, Eric C. Polley, Raymond Moore, David E. Goldgar, Peter A. Fasching, Jill S. Dolinsky, Abigail Thomas, Heli Nevanlinna, Judy Garber, Diana Eccles, Hiltrud Brauch, Andrew K. Godwin, Bing Jian Feng, Holly LaDuca, Angela Cox, Song Yao, Hermela Shimelis, Jie Na, Florentia Fostira, Steven N. Hart, Fergus J. Couch, Tina Pesaran, Amanda Ewart-Toland, Chunling Hu, Jenna Lilyquist, Irene Konstantopoulou

المساهمون: Doctoral Programme in Biomedicine, Department of Obstetrics and Gynecology, Clinicum

المصدر: JNCI Journal of the National Cancer Institute

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Cancer Research, Triple Negative Breast Neoplasms, PHENOTYPE, 0302 clinical medicine, Gene Frequency, Risk Factors, Odds Ratio, CONFER SUSCEPTIBILITY, Age of Onset, Triple-negative breast cancer, medicine.diagnostic_test, WOMEN, Articles, Middle Aged, 3. Good health, 030220 oncology & carcinogenesis, SURVIVAL, Female, Adult, medicine.medical_specialty, PALB2, 3122 Cancers, OVARIAN-CANCER, 03 medical and health sciences, Young Adult, Breast cancer, Internal medicine, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Genetic Testing, INHERITED MUTATIONS, Alleles, Genetic Association Studies, Genetic testing, REPAIR, Cancer prevention, business.industry, Case-control study, Cancer, Odds ratio, medicine.disease, 030104 developmental biology, Case-Control Studies, Mutation, business, Genome-Wide Association Study

وصف الملف: text; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb12160fb9f3ea88ca976366ab9061ccTest
https://eprints.soton.ac.uk/426063Test/

المؤلفون: Peter Kraft, Emmanuella Bimeh, Bing Jian Feng, Mary Beth Terry, Georgia Chenevix-Trench, John L. Hopper, Saundra S. Buys, Hongyan Li, Melissa C. Southey, David E. Goldgar, Xiaoqing Chen, Esther M. John, Alexander Miron, Kelly-Anne Phillips, Antonis C. Antoniou, Gillian Mitchell, Daniel Barrowdale, Paul A. James, Heather Thorne, Irene L. Andrulis, Jonathan Beesley, Mary B. Daly

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, medicine.medical_specialty, Multifactorial Inheritance, Single-nucleotide polymorphism, Breast Neoplasms, non-BRCA associated, Polymorphism, Single Nucleotide, Risk Assessment, Article, 03 medical and health sciences, risk prediction, 0302 clinical medicine, Breast cancer, breast cancer, Risk Factors, Internal medicine, Cancer screening, medicine, Humans, Genetic Predisposition to Disease, Registries, Family history, Prospective cohort study, Genetics (clinical), Early Detection of Cancer, Aged, Gynecology, business.industry, Hazard ratio, Middle Aged, medicine.disease, Confidence interval, 3. Good health, 030104 developmental biology, cancer screening, 030220 oncology & carcinogenesis, polygenic risk score, Female, business, Risk assessment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::352a33e412bebbe61f92bb8a0e3c5f3cTest
http://europepmc.org/articles/PMC5107177Test

المؤلفون: Nathalie Forey, Sandrine McKay-Chopin, F. Le Calvez-Kelm, Irene L. Andrulis, Melissa C. Southey, Amanda Gammon, Fabienne Lesueur, David E. Goldgar, Sean V. Tavtigian, Nivonirina Robinot, Wendy Kohlmann, Andrew M. Paquette, Geoffroy Durand, Jason Gertz, Mia Hashibe, T. C. Francy, J. S. Rosenthal, Erin L. Young, Tu Nguyen-Dumont, A. W. Stark, Esther M. John, Javier Oliver, Maroulio Pertesi, Kimberly A. Kaphingst, John L. Hopper, Maxime Vallée, Catherine Voegele, Bing Jian Feng, Francesca Damiola

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Risk, Mutation, Missense, Single-nucleotide polymorphism, Breast Neoplasms, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Polymorphism (computer science), Genotype, medicine, Cancer Genetics, Genetics, Missense mutation, Humans, Genetic Predisposition to Disease, Clinical genetics, Genetic Testing, CHEK2, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Cancer: breast, Case-control study, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, Case-Control Studies, Screening, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b6ff5488840b1de5ee47b3c1ddede98Test
http://europepmc.org/articles/PMC4893078Test

المؤلفون: Heather Thorne, Bing Jian Feng, Igor V. Makunin, Jonathan Ellis, Melissa C. Southey, kConFab Investigators, Ian G. Campbell, Jun Li, David E. Goldgar, Huong Meeks, Sue Healey, Judy Kirk, David Clouston, Georgia Chenevix-Trench, Gillian Mitchell

المصدر: Journal of Medical Genetics. 53:34-42

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, PALB2, Genes, BRCA2, Genes, BRCA1, Biology, Bioinformatics, Article, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Biomarkers, Tumor, Odds Ratio, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, skin and connective tissue diseases, CHEK2, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Genetic testing, Ovarian Neoplasms, Massive parallel sequencing, medicine.diagnostic_test, Computational Biology, High-Throughput Nucleotide Sequencing, Exons, medicine.disease, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Hereditary Breast and Ovarian Cancer Syndrome, Female, Ovarian cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d19eaae6d784d350863c11b21f0658Test
https://doi.org/10.1136/jmedgenet-2015-103452Test

المؤلفون: Chad D. Huff, N. Scott Reading, Binay Kumar Thakur, Hao Hu, Sarah Abdelaziz, Anna Shestakova, Chin Bahadur Pun, Lucie Lanikova, Bhola Siwakoti, Bing Jian Feng, Josef T. Prchal, Amir Sapkota, Mia Hashibe, Tatiana Burjanivova, Tsewang Tashi

المصدر: Oncotarget

مصطلحات موضوعية: 0301 basic medicine, Gerontology, Male, medicine.medical_specialty, Lung Neoplasms, Huntsman Cancer Institute, Acclimatization, Population, EPAS1/HIF-2α, Mongoloid, Tibet, Salt lake, 03 medical and health sciences, medicine, Humans, Lung cancer, education, ENGL1/PHD2, Preventive healthcare, Aged, Aged, 80 and over, education.field_of_study, business.industry, hypoxia, Public health, high-altitude adaptation, Middle Aged, medicine.disease, Hypoxia-Inducible Factor 1, alpha Subunit, 3. Good health, lung cancer, 030104 developmental biology, Increased risk, Oncology, Female, business, Demography, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a1861976a97d672e62074d19d08a0eTest
https://pubmed.ncbi.nlm.nih.gov/28036300Test