المؤلفون: Elias L. Salfati, Emily G. Spencer, Sarah E. Topol, Evan D. Muse, Manuel Rueda, Jonathan R. Lucas, Glenn N. Wagner, Steven Campman, Eric J. Topol, Ali Torkamani

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Whole-exome sequencing, Medical genetics, Molecular autopsy, Rare and undiagnosed diseases, Sudden death, Automated periodic re-analysis, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/812335bb8de34937bace0faee446502aTest

المؤلفون: Manuel Rueda, Jennifer L. Wagner, Tierney C. Phillips, Sarah E. Topol, Evan D. Muse, Jonathan R. Lucas, Glenn N. Wagner, Eric J. Topol, Ali Torkamani

المصدر: Frontiers in Cardiovascular Medicine, Vol 4 (2018)

مصطلحات موضوعية: molecular autopsy, sudden cardiac death, whole exome sequencing, gene panel, mitochondrial DNA, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fcvm.2017.00090/fullTest; https://doaj.org/toc/2297-055XTest

الوصول الحر: https://doaj.org/article/ee1f41b4d6f74388a77f351c3f69be3fTest

المؤلفون: Manuel Rueda, Jennifer L. Wagner, Tierney C. Phillips, Sarah E. Topol, Evan D. Muse, Jonathan R. Lucas, Glenn N. Wagner, Eric J. Topol, Ali Torkamani

المصدر: Frontiers in Cardiovascular Medicine, Vol 4 (2017)

مصطلحات موضوعية: molecular autopsy, sudden cardiac death, whole exome sequencing, gene panel, mitochondrial DNA, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fcvm.2017.00072/fullTest; https://doaj.org/toc/2297-055XTest

الوصول الحر: https://doaj.org/article/8f39e99ab52142fdb2cd94a215ebc6b8Test

المؤلفون: Pedro Belda-Ferre, Karissa Chao, Vaughn S. Cooper, Gilberto Sabino-Santos, Gytis Dudas, Karthik Gangavarapu, Catelyn Anderson, Lauge Farnaes, Robert F. Garry, Rob Knight, Louise C. Laurent, Maximilian Marshall, Michelle McGraw, Lauren Gardner, David J. Nolan, Nathan D. Grubaugh, Raphaëlle Klitting, Jeremy P. Kamil, Stefan Aigner, Daniel J. Snyder, Arnaud Drouin, Rebecca Rose, Nathaniel L. Matteson, Antoinette R. Bell-Kareem, Manar Alkuzweny, Amy K. Feehan, Lilia I. Melnik, Refugio Robles-Sikisaka, Peter DeHoff, Sarah E. Topol, Allison R. Smither, Rona S. Scott, Clarisse Marotz, Kristian G. Andersen, Dahlene N. Fusco, Mark Zeller, Kamran Khan, Susanna L. Lamers, John A. Vanchiere, Gene W. Yeo, Emily G. Spencer, Laura Nicholson, Shashank Sathe, Phillipe Lemey, Emma B. Hodcroft, Marc A. Suchard, Julia Garcia-Diaz, Charlotte A. Hobbs, Laura D. Hughes, Kaylynn J. Genemaras, Alexander Watts, Patricia Snarski

المصدر: medRxiv
medRxiv, vol 2, iss 02-09
Cell, vol 184, iss 19
Cell

مصطلحات موضوعية: 2019-20 coronavirus outbreak, Economic growth, Coronavirus disease 2019 (COVID-19), Genomic data, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Biology, genomic epidemiology, viral emergence, Medical and Health Sciences, General Biochemistry, Genetics and Molecular Biology, Article, law.invention, Disease Outbreaks, Vaccine Related, law, Risk Factors, Biodefense, Development economics, Humans, skin and connective tissue diseases, Epidemics, Viral Sequencing, Lung, Phylogeny, Travel, SARS-CoV-2, Prevention, fungi, Outbreak, COVID-19, viral sequencing, Biological Sciences, Louisiana, Texas, mobility, United States, phylogenetics, Transmission (mechanics), Geography, Good Health and Well Being, Emerging Infectious Diseases, Databases as Topic, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a495fac7f184b16589de117d8afb0f20Test
https://pubmed.ncbi.nlm.nih.gov/33564781Test

المؤلفون: Emily G. Spencer, Glenn N. Wagner, Ali Torkamani, Jonathan R. Lucas, Eric J. Topol, Manuel Rueda, Steven Campman, Evan D. Muse, Elias L. Salfati, Sarah E. Topol

المصدر: Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Myosin Light Chains, lcsh:QH426-470, Adenosine Deaminase, Ubiquitin-Protein Ligases, lcsh:Medicine, 030105 genetics & heredity, Bioinformatics, Sudden death, 03 medical and health sciences, Death, Sudden, Young Adult, Rare Diseases, Molecular autopsy, Nucleotidases, Databases, Genetic, Exome Sequencing, Genetics, Medicine, Humans, Idiopathic disease, Exome, Automated periodic re-analysis, Child, Molecular Biology, Gene, Rare and undiagnosed diseases, Genetics (clinical), Exome sequencing, Likely pathogenic, business.industry, Research, lcsh:R, Medical genetics, Genetic Variation, Sudden unexplained death, Phenotype, 3. Good health, lcsh:Genetics, 030104 developmental biology, Child, Preschool, Whole-exome sequencing, Molecular Medicine, Female, business, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2426bd824347d513ebcc3a6e10c04c7aTest
https://pubmed.ncbi.nlm.nih.gov/31847883Test

المؤلفون: Erick R. Scott, Eric J. Topol, Nathan E. Wineinger, Dale L. Bodian, Sarah E. Topol, Ashley A. Scott-Van Zeeland, Galina Erikson, Manuel Rueda, Bhuvan Molparia, John E. Niederhuber, Ali Torkamani

المصدر: Cell. 165:1002-1011

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, media_common.quotation_subject, Longevity, Genome-wide association study, Coronary Artery Disease, Disease, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Cohort Studies, 03 medical and health sciences, Alzheimer Disease, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Cognitive decline, Aged, media_common, Aged, 80 and over, Genetics, Whole genome sequencing, medicine.disease, 3. Good health, 030104 developmental biology, Cognitive Aging, Cohort, Female, Alzheimer's disease, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b172015f36f91ce406ea71cd56cd72Test
https://doi.org/10.1016/j.cell.2016.03.022Test

المؤلفون: Ronald A. Simon, Bradley A. Patay, Sarah E. Topol, Nicholas J. Schork, Nelson Hwynn, Eric J. Topol, Kelly Bethel, Jennifer Friedman, Debra Boeldt, Paul J. Pockros, Ali Torkamani, Gary W. Williams, Burcu F. Darst, Ashley A. Scott-Van Zeeland, Erick R. Scott, Cinnamon S. Bloss, Galina Erikson, Robert L. Bjork

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine : official journal of the American College of Medical Genetics, vol 17, iss 12

مصطلحات موضوعية: Male, clinical sequencing, Disease, Bioinformatics, Genome, Pathology, Pathology, Molecular, Child, 10. No inequality, Genetics (clinical), Genetics & Heredity, screening and diagnosis, Genetic disorder, undiagnosed diseases, 3. Good health, genome sequencing, Detection, Genetic Diseases, Child, Preschool, Female, Sequence Analysis, Human, Adult, Adolescent, Clinical Sciences, MEDLINE, rare disease, Context (language use), Genomics, Article, DNA sequencing, Young Adult, Rare Diseases, Clinical Research, Genetics, genomics, medicine, Humans, Genetic Testing, Preschool, Genome, Human, business.industry, Human Genome, Genetic Diseases, Inborn, Molecular, Infant, DNA, Sequence Analysis, DNA, medicine.disease, 4.1 Discovery and preclinical testing of markers and technologies, Inborn, Good Health and Well Being, business, Rare disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4e33b65d5890ba5e999f106c60dcf4bTest
https://doi.org/10.1038/gim.2015.21Test

المؤلفون: Sarah E. Topol, Burcu F. Darst, Nicholas J. Schork, Addie L. Fortmann, Ali Torkamani, Cinnamon S. Bloss, Cynthia Cheung, Athena Philis-Tsimikas, Debra Boeldt, Lauren Ariniello

المصدر: Personalized medicine. 14(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Family support, Context (language use), Bioinformatics, 03 medical and health sciences, Rare Diseases, Medicine, Humans, Exome, Genetic Testing, Precision Medicine, Child, Genetic testing, Aged, Pharmacology, Whole genome sequencing, Aged, 80 and over, medicine.diagnostic_test, Whole Genome Sequencing, business.industry, Genome, Human, Clinical study design, General Medicine, Sequence Analysis, DNA, Middle Aged, Precision medicine, 030104 developmental biology, Patient Satisfaction, Family medicine, Molecular Medicine, Female, business, Return of results, Attitude to Health, Qualitative research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4beefe91e3f5d686d736a8f889d86a27Test
https://pubmed.ncbi.nlm.nih.gov/29749824Test

المؤلفون: Glenn N. Wagner, Eric J. Topol, Evan D. Muse, Tierney Phillips, Jennifer L. Wagner, Jonathan R. Lucas, Manuel Rueda, Sarah E. Topol, Ali Torkamani

المصدر: Frontiers in Cardiovascular Medicine, Vol 4 (2018)

مصطلحات موضوعية: lcsh:Diseases of the circulatory (Cardiovascular) system, Mitochondrial DNA, business.industry, mitochondrial DNA, Bioinformatics, medicine.disease, Sudden death, sudden cardiac death, whole exome sequencing, Sudden cardiac death, gene panel, lcsh:RC666-701, Gene panel, molecular autopsy, Molecular autopsy, medicine, business, Cardiology and Cardiovascular Medicine, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3218de6005220ea5a21a71a5901117beTest

المؤلفون: Kyle Thompson, Sonia Emperador, Peter Rehling, Eduardo Ruiz-Pesini, Robert W. Taylor, Sarah E. Topol, Julio Montoya, Abhishek Aich, David Pacheu-Grau, Robert McFarland, Emily Spencer, Sylvie Callegari, Ali Torkamani

المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Saccharomyces cerevisiae Proteins, Saccharomyces cerevisiae, Biology, Mitochondrion, DNA, Mitochondrial, Mitochondrial Membrane Transport Proteins, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Mitochondrial Precursor Protein Import Complex Proteins, Exome Sequencing, Genetics, medicine, Translocase, Humans, Genetic Predisposition to Disease, Lactic Acid, Inner mitochondrial membrane, Child, Molecular Biology, Genetics (clinical), Membrane Transport Proteins, Mitochondrial Myopathies, General Medicine, Fibroblasts, Mitochondrial carrier, medicine.disease, Cell biology, Mitochondria, 030104 developmental biology, Mitochondrial Membranes, Mutation, biology.protein, Female, General Article, Intermembrane space, Carrier Proteins, 030217 neurology & neurosurgery, Biogenesis, TIM22

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694dc77a98666abbdc4ba363e72f56d2Test
http://resolver.sub.uni-goettingen.de/purl?gs-1/15894Test