المؤلفون: Roozbeh Manshaei, Sean DeLong, Veronica Andric, Esha Joshi, John B. A. Okello, Priya Dhir, Cherith Somerville, Kirsten M. Farncombe, Kelsey Kalbfleisch, Rebekah K. Jobling, Stephen W. Scherer, Raymond H. Kim, S. Mohsen Hosseini

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Genome interpretation, Genomic variants, Genotype–phenotype correlation, Disease gene validity, Variant pathogenicity, Causative variants, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/d674837ee7fe4996b3c6b8ee73fcff1d

المؤلفون: Roozbeh Manshaei, Daniele Merico, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv Chaturvedi, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, Christian R. Marshall, Rebekah K. Jobling, Erwin Oechslin, Rachel M. Wald, Candice K. Silversides, Stephen W. Scherer, Raymond H. Kim, Anne S. Bassett

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: tetralogy of fallot, heart disease, whole genome sequencing, NOTCH1, FLT4, rare variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00957/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/146cab81df634ca49addda31257411e3

المؤلفون: Qiliang Ding, Cherith Somerville, Roozbeh Manshaei, Brett Trost, Miriam S. Reuter, Kelsey Kalbfleisch, Kaitlin Stanley, John B. A. Okello, S. Mohsen Hosseini, Eriskay Liston, Meredith Curtis, Mehdi Zarrei, Edward J. Higginbotham, Ada J. S. Chan, Worrawat Engchuan, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Raymond H. Kim, Rebekah K. Jobling

المصدر: Human Genetics. 142:201-216

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c3d8cdae1fbc7797f1130d8f79784994
https://doi.org/10.1007/s00439-022-02494-1

المؤلفون: Palak G. Patel, author^{1, 2}, Shamini Selvarajah, author^{1, 2}, Suzanne Boursalie, author^{1, 2}, Nathan E. How, author^{1, 2}, Joshua Ejdelman, author³, Karl-Philippe Guerard, author³, John M. Bartlett, author⁴, Jacques Lapointe, author³, Paul C. Park, author¹, John B. A. Okello, author^{1, 2}, David M. Berman, author^{1, 2}

المصدر: Journal of Visualized Experiments. (114)

الإتاحة: http://www.jove.com/video/54299

المؤلفون: Stephen W. Scherer, Sergio L. Pereira, Robin Z. Hayeems, Rebekah Jobling, Christian R. Marshall, Raymond H. Kim, Luc Mertens, S. Mohsen Hosseini, Priya Dhir, Ritu B. Aul, Iris Cohn, Sarah Bowdin, Roozbeh Manshaei, Meredith Curtis, Mike Seed, Eriskay Liston, John B. A. Okello, Reem Khan, Rajiv Chaturvedi, Akshaya Raajkumar, Linh Ly, Miriam S. Reuter, Bhooma Thiruvahindrapuram

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Heart Diseases, Heart disease, Transposition of Great Vessels, Cardiomyopathy, 030204 cardiovascular system & hematology, Bioinformatics, Mechanotransduction, Cellular, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Exome, Child, Genetics (clinical), Exome sequencing, Tetralogy of Fallot, Genetic heterogeneity, business.industry, Chromosome Mapping, NIPBL, gene discovery, medicine.disease, congenital heart disease, ACMG guidelines, Human genetics, genome sequencing, 030104 developmental biology, business, exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fedd9e327cc3be2abf121fee17390405
https://doi.org/10.1038/s41436-020-0757-x

المؤلفون: Kelsey Kalbfleisch, Robin Z. Hayeems, Miriam S. Reuter, Iris Cohn, Rebekah K. Jobling, Raymond H. Kim, Roozbeh Manshaei, Tara Paton, John B. A. Okello, Ruud H J Verstegen, Abby J. Krupski, Reem Khan, Aaron Goldman, Eriskay Liston, Meredith Curtis, Shinya Ito

المصدر: JAMA Network Open

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Population, Pharmacogenomic Testing, Pilot Projects, Pediatrics, Cohort Studies, Pharmacotherapy, Internal medicine, medicine, Humans, Dosing, Genetic Testing, Precision Medicine, education, Child, Original Investigation, Pharmacy and Clinical Pharmacology, Ontario, education.field_of_study, business.industry, Tertiary Healthcare, Research, Standard treatment, General Medicine, Online Only, Point-of-Care Testing, Cohort, Female, business, Pharmacogenetics, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd943cd3ff8f50f697db4c6d9d2d71b
https://pubmed.ncbi.nlm.nih.gov/34037737

المؤلفون: Priya Dhir, S. Mohsen Hosseini, Rebekah Jobling, Kirsten M. Farncombe, Sean DeLong, Stephen W. Scherer, Veronica Andric, John B. A. Okello, Raymond H. Kim, Roozbeh Manshaei, Esha Joshi, Kelsey Kalbfleisch, Cherith Somerville

مصطلحات موضوعية: Prioritization, medicine.medical_specialty, Interpretation (logic), Genome, Human, Process (engineering), Interface (Java), Computer science, Genomic sequencing, Genetic Variation, Genomics, Pathogenicity, computer.software_genre, Genome, United States, Phenotype, Sequence homology, Genetics, medicine, Humans, Medical genetics, Data mining, Gene, computer, Software, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a0eca0621c047ba28b7b08d621c523
https://doi.org/10.1101/2020.12.04.408336

المؤلفون: Winnie Fu, Nathan E How, David M. Berman, Rachel Livergant, Thiago Vidotto, D. Robert Siemens, Liana B. Guedes, Palak G. Patel, Tamara Jamaspishvili, Anne Marie Mes-Masson, Tamara L. Lotan, Veronique Ouellet, Rodolfo Borges dos Reis, Madhuri Koti, Fred Saad, John B. A. Okello, Atsunari Kawashima, Clarissa Gondim Picanço, Jeremy A. Squire, Yingwei P. Peng, Yi Niu, Isabelle Caven

المصدر: J Natl Cancer Inst
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Oncology, Biochemical recurrence, Male, Cancer Research, medicine.medical_specialty, medicine.medical_treatment, Kaplan-Meier Estimate, Risk Assessment, Cohort Studies, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Internal medicine, medicine, Adjuvant therapy, PTEN, Humans, 030304 developmental biology, Proportional Hazards Models, Retrospective Studies, Prostatectomy, 0303 health sciences, ANÁLISE EM MICROSSÉRIES, biology, Proportional hazards model, business.industry, Hazard ratio, PTEN Phosphohydrolase, Cancer, Prostatic Neoplasms, medicine.disease, Prognosis, Immunohistochemistry, 3. Good health, Editorial, 030220 oncology & carcinogenesis, biology.protein, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0d058142c5934fa49a3e86f74969c9
https://pubmed.ncbi.nlm.nih.gov/32129860

المؤلفون: Laura A. Lee, Tanya Sack, Robert J. Gooding, Rachel Dunn, Joseph L. Chin, Atsunari Kawashima, Audrey Ellis, Karl-Philippe Guérard, Elizabeth Marra, Glenn Bauman, Vinolia Arthur-Hayward, Chelsea L. Jackson, Fadi Brimo, Simone Chevalier, Khurram M. Siddiqui, David M. Berman, Karen Mackie, Thomas Wessel, Dan Dion, Tamara Jamaspishvili, Suzanne Boursalie, Anna Ying-Wah Lee, Lee-Anne Pickard, Jacques Lapointe, Palak G. Patel, Eleonora Scarlata, Nathan E How, John M. S. Bartlett, John B. A. Okello, Khalil Hetou, Madeleine Moussa, Paul C. Boutros

المصدر: Medical Biophysics Publications
Patel, P G, Wessel, T, Kawashima, A, Okello, J B, Jamaspishvili, T, Guerard, K-P, Lee, L, Ying-Wah Lee, A, E. How, N, Dion, D, Scarlata, E, L. Jackson, C, Boursalie, S, Sack, T, Dunn, R, Moussa, M, Mackie, K, Ellis, A, Marra, E, Chin, J, Siddiqui, K, Hetou, K, Pickard, L-A, Arthur Hayward, V, Bauman, G, Chevalier, S, Brimo, F, Boutros, P, Lapointe, J, Bartlett, J, J. Gooding, R & M. Berman, D 2019, ' A three gene DNA methylation biomarker accurately classifies early stage prostate cancer ', Prostate . https://doi.org/10.1002/pros.23895

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Urology, medicine.medical_treatment, prostate cancer diagnosis, Biology, Sensitivity and Specificity, Epigenesis, Genetic, 03 medical and health sciences, GSTP1, Prostate cancer, 0302 clinical medicine, Prostate, Internal medicine, medicine, Biomarkers, Tumor, Humans, Cancer epigenetics, Extracellular Matrix Proteins, DNA methylation, biomarker discovery and validation, Prostatectomy, Cancer, Prostatic Neoplasms, Reproducibility of Results, DNA, DNA Methylation, medicine.disease, cancer epigenetics, 030104 developmental biology, medicine.anatomical_structure, Glutathione S-Transferase pi, 030220 oncology & carcinogenesis, Biomarker (medicine), Intercellular Signaling Peptides and Proteins, Proteoglycans

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ff13d6577bd2a95ff43c8114d9bb6f
https://pubmed.ncbi.nlm.nih.gov/31433512

المؤلفون: Shamini Selvarajah, David M. Berman, John B. A. Okello, Paul C. Park, John M. S. Bartlett, Karl Philippe Guérard, Suzanne Boursalie, Joshua Ejdelman, Palak G. Patel, Nathan E How, Jacques Lapointe

المصدر: Journal of Visualized Experiments : JoVE

مصطلحات موضوعية: 0301 basic medicine, Tissue Fixation, General Chemical Engineering, Extraction, Basic Protocol, FFPE, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, chemistry.chemical_compound, Issue 114, Formaldehyde, Gene expression, Pathology, Humans, Cancer, Tissue, Paraffin Embedding, biology, General Immunology and Microbiology, General Neuroscience, Nucleic Acids (DNA and RNA), Prostate, RNA, Archival, DNA, Proteinase K, DNA extraction, Molecular biology, Reverse transcriptase, 030104 developmental biology, Real-time polymerase chain reaction, Biochemistry, chemistry, Paraffin, biology.protein, Nucleic acid, Cores, Deparaffinization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1c93ad5bf81253a2a011fbe430ec7b
http://europepmc.org/articles/PMC5091935