المؤلفون: Maggi, Jordi, Koller, Samuel, Feil, Silke, Bachmann-Gagescu, Ruxandra, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International Journal of Molecular Sciences, 25(6540):6540.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Genetics, Institute of Medical Molecular Genetics, Zurich Center for Integrative Human Physiology (ZIHP), Neuroscience Center Zurich, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), whole genome sequencing, WGS, whole exome sequencing, WES, added diagnostic value, diagnostic yield, genetic testing, molecular diagnostics, inherited retinal dystrophy, IRD, structural variants, SVs, copy number variants, CNVs, deep-intronic variants

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/260621/1/ZORA_pdf_version_1718882200.pdfTest; https://www.zora.uzh.ch/id/eprint/260621/6/Manuscript_WGS_Table_S1.pdfTest; https://www.zora.uzh.ch/id/eprint/260621/7/Manuscript_WGS_Table_S2.pdfTest; https://www.zora.uzh.ch/id/eprint/260621/8/Manuscript_WGS_Table_S3.pdfTest; https://www.zora.uzh.ch/id/eprint/260621/9/Manuscript_WGS_Figure_S1.pdfTest; info:pmid/38928247; urn:issn:1422-0067

الإتاحة: https://doi.org/10.5167/uzh-26062110.3390/ijms25126540Test
https://www.zora.uzh.ch/id/eprint/260621Test/
https://www.zora.uzh.ch/id/eprint/260621/1/ZORA_pdf_version_1718882200.pdfTest
https://www.zora.uzh.ch/id/eprint/260621/6/Manuscript_WGS_Table_S1.pdfTest
https://www.zora.uzh.ch/id/eprint/260621/7/Manuscript_WGS_Table_S2.pdfTest
https://www.zora.uzh.ch/id/eprint/260621/8/Manuscript_WGS_Table_S3.pdfTest
https://www.zora.uzh.ch/id/eprint/260621/9/Manuscript_WGS_Figure_S1.pdfTest

المؤلفون: Woerner, Audrey C, Gallagher, Renata C, Vockley, Jerry, Adhikari, Aashish N

مصطلحات موضوعية: Health Services, Pediatric, Biotechnology, Human Genome, Prevention, Perinatal Period - Conditions Originating in Perinatal Period, Clinical Research, Pediatric Research Initiative, Genetic Testing, Genetics, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Good Health and Well Being, newborn screening, whole genome sequencing, whole exome sequencing, next-generation sequencing, recommended uniform screening panel, Paediatrics and Reproductive Medicine, Other Medical and Health Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2r1455p5Test

المؤلفون: Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F, Investigators, the RCIGM, Bainbridge, Matthew N, Barea, Jaime, Batalov, Sergey, Bezares, Zaira, Braun, Joshua JA, Del Campo, Miguel, Carroll, Jeanne, Cohenmeyer, Casey, Coufal, Nicole G, Diaz, Carlos, Ding, Yan, Ellsworth, Katarzyna, Evans, Marva, Feigenbaum, Annette, Friedman, Jennifer, Gleeson, Joe, Hansen, Christian, Honold, Jose, James, Kiely, Jones, Marilyn C, Kimball, Amy, Knight, Gail, Van Der Kraan, Lucitia, Lane, Brian, Le, Jennie, Leibel, Sandra, Lenberg, Jerica, Mashburn, Dana, Moyer, Laurel, Mulrooney, Patrick, Nahas, Shareef, Oh, Daeheon, Orendain, Daniken, Oriol, Albert, Ortiz-Arechiga, Maria, Prince, Lance, Rego, Seema, Reyes, Iris, Sanford, Erica, Sauer, Charles, Schwanemann, Leila, Speziale, Mark, Suttner, Denise, Sweeney, Nathaly, Song, Richard, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wong, Terence, Wright, Meredith S, Yamada, Catherine

المصدر: American Journal of Human Genetics. 107(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Health Sciences, Genetics, Clinical Trials and Supportive Activities, Clinical Research, Biotechnology, Infectious Diseases, Pediatric, Human Genome, Good Health and Well Being, Chromosome Mapping, Clinical Decision-Making, Critical Illness, Disease Management, Female, Genetic Diseases, Inborn, Genetic Testing, Genome, Human, Humans, Infant, Infant, Newborn, Intensive Care Units, Neonatal, Logistic Models, Male, Prospective Studies, Time Factors, Whole Genome Sequencing, RCIGM Investigators, NSIGHT2, clinical utility, diagnostic testing outcomes, healthcare cost-benefit analysis, neonatal intensive care unit, pediatric intensive care unit, rapid whole-exome sequencing, rapid whole-genome sequencing, ultra-rapid whole-genome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/289757jtTest
https://escholarship.org/content/qt289757jt/qt289757jt.pdfTest

المؤلفون: Lee, Hane, Huang, Alden Y, Wang, Lee-Kai, Yoon, Amanda J, Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H, Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D, Woods, Jeremy D, Dell'Angelica, Esteban C, Fogel, Brent L, Martin, Martin G, Butte, Manish J, Parker, Neil H, Wang, Richard T, Shieh, Perry B, Wong, Derek A, Gallant, Natalie, Singh, Kathryn E, Tavyev Asher, Y Jane, Sinsheimer, Janet S, Krakow, Deborah, Loo, Sandra K, Allard, Patrick, Papp, Jeanette C, Undiagnosed Diseases Network, Palmer, Christina GS, Martinez-Agosto, Julian A, Nelson, Stanley F

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(3)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Genetic Diseases, Inborn, Rare Diseases, Sequence Analysis, DNA, Mutation, Genetic Testing, Pathology, Molecular, Transcriptome, Exome, Whole Genome Sequencing, Whole Exome Sequencing, RNA-Seq, exome sequencing, genome sequencing, molecular diagnosis, transcriptome sequencing, undiagnosed rare Mendelian diseases, Clinical Research, Human Genome, Genetics, Prevention, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Genetics & Heredity, Clinical Sciences

الوصول الحر: https://escholarship.org/uc/item/2ss4j2vwTest

المؤلفون: Kingsmore, Stephen F, Cakici, Julie A, Clark, Michelle M, Gaughran, Mary, Feddock, Michele, Batalov, Sergey, Bainbridge, Matthew N, Carroll, Jeanne, Caylor, Sara A, Clarke, Christina, Ding, Yan, Ellsworth, Katarzyna, Farnaes, Lauge, Hildreth, Amber, Hobbs, Charlotte, James, Kiely, Kint, Cyrielle I, Lenberg, Jerica, Nahas, Shareef, Prince, Lance, Reyes, Iris, Salz, Lisa, Sanford, Erica, Schols, Peter, Sweeney, Nathaly, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wigby, Kristen, Wong, Terence, Chowdhury, Shimul, Wright, Meredith S, Dimmock, David, Investigators, the RCIGM, Bezares, Zaira, Bloss, Cinnamon, Braun, Joshua JA, Diaz, Carlos, Mashburn, Dana, Tamang, Dorjee, Orendain, Daniken, Friedman, Jenni, Gleeson, Joe, Barea, Jaime, Chiang, George, Cohenmeyer, Casey, Coufal, Nicole G, Evans, Marva, Honold, Jose, Hovey, Raymond L, Kimball, Amy, Lane, Brian, Le, Crystal, Le, Jennie, Leibel, Sandra, Moyer, Laurel, Mulrooney, Patrick, Oh, Daeheon, Ordonez, Paulina, Oriol, Albert, Ortiz-Arechiga, Maria, Puckett, Laura, Speziale, Mark, Suttner, Denise, Van Der Kraan, Lucitia, Knight, Gail, Sauer, Charles, Song, Richard, White, Sarah, Wise, Audra, Yamada, Catherine

المصدر: American Journal of Human Genetics. 105(4)

مصطلحات موضوعية: Human Genome, Pediatric, Clinical Research, Genetics, Clinical Trials and Supportive Activities, Good Health and Well Being, Genetic Testing, Humans, Infant, Infant, Newborn, Exome Sequencing, Whole Genome Sequencing, RCIGM Investigators, diagnosis, genetic disease, genomic medicine, infant, intensive care unit, precision medicine, ultra-rapid whole-genome sequencing, whole-exome sequencing, whole-genome sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9h05k7vhTest

المؤلفون: Bassaganyas, Laia, Freedman, George, Vaka, Dedeepya, Wan, Eunice, Lao, Richard, Chen, Flavia, Kvale, Mark, Currier, Robert J, Puck, Jennifer M, Kwok, Pui‐Yan

المصدر: Human Mutation. 39(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Clinical Research, Pediatric, Genetic Testing, Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, Pediatric Research Initiative, Rare Diseases, Good Health and Well Being, Dried Blood Spot Testing, Humans, Nucleic Acid Amplification Techniques, Sequence Analysis, DNA, Exome Sequencing, Whole Genome Sequencing, dried blood spot DNA preparation, newborn screening, WES, whole exome sequencing, WGS, whole genome sequencing, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9wf092tbTest

المؤلفون: Alan Taylor, Zeinab Alloub, Ahmad Abou Tayoun

المصدر: Genes; Volume 12; Issue 6; Pages: 818

مصطلحات موضوعية: genetic testing, pediatrics, diagnostics, next generation sequencing, microarray, whole exome sequencing, whole genome sequencing, precision medicine

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12060818Test

الإتاحة: https://doi.org/10.3390/genes12060818Test

المؤلفون: Rena Vanzo, Aparna Prasad, Lauren Staunch, Charles Hensel, Moises Serrano, E. Wassman, Alexander Kaplun, Temple Grandin, Richard Boles

المصدر: Journal of Personalized Medicine; Volume 11; Issue 1; Pages: 21

مصطلحات موضوعية: autism spectrum disorder, genetic testing, chromosomal microarray analysis, whole exome sequencing, whole genome sequencing, clinical utility, polygenic risk scores, Temple Grandin

وصف الملف: application/pdf

العلاقة: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm11010021Test

الإتاحة: https://doi.org/10.3390/jpm11010021Test

المؤلفون: Josephi-Taylor, S, Barlow-Stewart, K, Selvanathan, A, Roscioli, T, Bittles, A, Meiser, B, Worgan, L, Rajagopalan, S, Colley, A, Kirk, EP

المصدر: urn:ISSN:1059-7700 ; urn:ISSN:1573-3599 ; Journal of Genetic Counseling, 28, 2, 240-250

مصطلحات موضوعية: Contraception/Reproduction, Pediatric, Prevention, Genetic Testing, Clinical Research, Genetics, Reproductive health and childbirth, 3 Good Health and Well Being, Adult, Australia, Child, Consanguinity, Family, Female, Genetic Carrier Screening, Humans, Male, Pregnancy, Reproducibility of Results, Exome Sequencing, Whole Exome Sequencing, Beliefs, Consanguineous, Inherited childhood conditions, Reproductive carrier screening, Whole genome sequencing, anzsrc-for: 1103 Clinical Sciences

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_55208Test; https://unsworks.unsw.edu.au/bitstreams/ab7fa390-52fb-41fa-8962-660492e18437/downloadTest; https://doi.org/10.1007/s10897-018-0298-5Test

الإتاحة: https://doi.org/10.1007/s10897-018-0298-5Test
http://hdl.handle.net/1959.4/unsworks_55208Test
https://unsworks.unsw.edu.au/bitstreams/ab7fa390-52fb-41fa-8962-660492e18437/downloadTest

المؤلفون: Bettina M. Zimmermann, Johanna Eichinger, Isabel Filges, Bernice Simone Elger, Insa Koné, David Shaw, Stuart McLennan

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-45 (2021)
BMC Pediatrics

مصطلحات موضوعية: RETURN, DISCLOSURE, education, Genome-wide sequencing, Pediatrics, RJ1-570, legal and social issues, Informed consent, ADOLESCENTS, Humans, Medicine, Genetic Testing, Child, Children, Exome sequencing, Genetic testing, GENETIC EXCEPTIONALISM, INFORMED-CONSENT, Scope (project management), medicine.diagnostic_test, STATEMENT, business.industry, Genetic exceptionalism, Research, Whole exome sequencing, Ethical, Ethical, legal and social issues, CARE, ddc, Systematic review, Incentive, Whole genome sequencing, Pediatrics, Perinatology and Child Health, WHOLE-GENOME, INCIDENTAL FINDINGS, Normative, Engineering ethics, business, Delivery of Health Care

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e5be3af2d1b052937784e211e7f11dTest
https://doaj.org/article/f29c4a628e6c45eda15c6f192409962eTest