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: Nattiya Kapol, Wuttichart Kamolvisit, Lalida Kongkiattikul, Evan Huang-Ku, Namfon Sribundit, Surasit Lochid-Amnuay, Nathapol Samprasit, Thamonwan Dulsamphan, Parntip Juntama, Chotika Suwanpanich, Ponghathai Boonsimma, Vorasuk Shotelersuk, Yot Teerawattananon

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: rapid whole-exome sequencing, cost-effectiveness, next-generation sequencing, low- and middle-income countries, acute pediatrics, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1204853/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/cf4b99afc2fc4e859dc35ea81c8790c0Test

المؤلفون: Kuntal Sen, Jennifer Harmon, Andrea L. Gropman

المصدر: International Journal of Neonatal Screening; Volume 7; Issue 4; Pages: 76

مصطلحات موضوعية: critically ill newborns, ethics, genomic sequencing, newborn screening, policy, rapid whole exome sequencing, rapid whole genome sequencing

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/ijns7040076Test

الإتاحة: https://doi.org/10.3390/ijns7040076Test

المؤلفون: Claudia C.Y. Chung, Gordon K.C. Leung, Christopher C.Y. Mak, Jasmine L.F. Fung, Mianne Lee, Steven L.C. Pei, Mullin H.C. Yu, Vivian C.C. Hui, Joshua C.K. Chan, Jeffrey F.T. Chau, Marcus C.Y. Chan, Mandy H.Y. Tsang, Wilfred H.S. Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel S.C. Wong, Rosanna M.S. Wong, Yu Lung Lau, Godfrey C.F. Chan, So Lun Lee, Kit San Yeung, Brian H.Y. Chung

المصدر: The Lancet Regional Health. Western Pacific, Vol 1, Iss , Pp 100001- (2020)

مصطلحات موضوعية: Rapid whole-exome sequencing, Paediatric, Children, Rare disease, Precision medicine, Healthcare cost-savings, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666606520300018Test; https://doaj.org/toc/2666-6065Test

الوصول الحر: https://doaj.org/article/e398ebf6ac4d424a93584d7da343cb7aTest

المؤلفون: Nattiya Kapol, Wuttichart Kamolvisit, Lalida Kongkiattikul, Evan Huang-Ku, Namfon Sribundit, Surasit Lochid-Amnuay, Nathapol Samprasit, Thamonwan Dulsamphan, Parntip Juntama, Chotika Suwanpanich, Ponghathai Boonsimma, Vorasuk Shotelersuk, Yot Teerawattananon

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, rapid whole-exome sequencing, cost-effectiveness, next-generation sequencing, low- and middle-income countries, acute pediatrics

العلاقة: https://figshare.com/articles/dataset/Table1_Using_an_experiment_among_clinical_experts_to_determine_the_cost_and_clinical_impact_of_rapid_whole_exome_sequencing_in_acute_pediatric_settings_docx/23616090Test

الإتاحة: https://doi.org/10.3389/fped.2023.1204853.s001Test
https://figshare.com/articles/dataset/Table1_Using_an_experiment_among_clinical_experts_to_determine_the_cost_and_clinical_impact_of_rapid_whole_exome_sequencing_in_acute_pediatric_settings_docx/23616090Test

المؤلفون: Harsha Gowda, Sarah Louise Williamson, Prakash Satodia, Swati Naik, Julia Baptista, Kate J Glover, Christina N Rasanayagam

المصدر: European Journal of Pediatrics

مصطلحات موضوعية: medicine.medical_specialty, Neonatal intensive care unit, Short Communication, Rapid whole-exome sequencing, Prenatal diagnosis, Intensive Care Units, Pediatric, State Medicine, 03 medical and health sciences, 0302 clinical medicine, Intensive Care Units, Neonatal, 030225 pediatrics, Intensive care, Exome Sequencing, Genetics, medicine, Humans, Exome, 030212 general & internal medicine, Child, Intensive care medicine, Exome sequencing, business.industry, Infant, Newborn, Infant, National health service, Pediatrics, Perinatology and Child Health, Cohort, Etiology, Neonatal intensive care, business, Genetic diagnosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b624960cadac643e659b907b3b9a04eTest
https://doi.org/10.1007/s00431-021-04115-xTest

المؤلفون: Jennifer Harmon, Kuntal Sen, Andrea L. Gropman

المصدر: International Journal of Neonatal Screening, Vol 7, Iss 76, p 76 (2021)
International Journal of Neonatal Screening

مصطلحات موضوعية: medicine.medical_specialty, critically ill newborns, Psychological intervention, Review, Diagnostic evaluation, Pediatrics, DNA sequencing, RJ1-570, Immunology and Microbiology (miscellaneous), rapid whole genome sequencing, medicine, Intensive care medicine, Uncertain significance, Exome sequencing, Newborn screening, Critically ill, business.industry, newborn screening, Public health, Obstetrics and Gynecology, rapid whole exome sequencing, ethics, Pediatrics, Perinatology and Child Health, genomic sequencing, business, policy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2908f30691ad1d6ae1451189a1652b9eTest
https://www.mdpi.com/2409-515X/7/4/76Test

المؤلفون: Williamson, Sarah L., Rasanayagam, Christina N., Glover, Kate J., Baptista, Julia, Naik, Swati, Satodia, Prakash, Gowda, Harsha

مصطلحات موضوعية: Genetics, Neonatal intensive care, Rapid whole-exome sequencing

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/34143244Test/; Williamson, S. L. et al. (2021) ‘Rapid exome sequencing: revolutionises the management of acutely unwell neonates.’, European journal of pediatrics, pp. 1–5. doi:10.1007/s00431-021-04115-x.; https://rde.dspace-express.com/handle/11287/621900Test; European journal of pediatrics; PMC8212268

الإتاحة: https://doi.org/10.1007/s00431-021-04115-xTest
https://rde.dspace-express.com/handle/11287/621900Test

المؤلفون: Vivian C.C. Hui, Joshua C.K. Chan, Christopher C.Y. Mak, Mandy H.Y. Tsang, Mianne Lee, So Lun Lee, Cheuk Wing Fung, Jeffrey Fong Ting Chau, Claudia Ching Yan Chung, Brian H.Y. Chung, Godfrey Chi-Fung Chan, Yiu Ki Ng, Kit San Yeung, Marcus C.Y. Chan, Wilfred Hing Sang Wong, Joanna Y.L. Tung, Gordon K.C. Leung, Mabel S.C. Wong, Jasmine L.F. Fung, Mullin H.C. Yu, Rosanna Wong, Kin Shing Lun, Yu-Lung Lau, Steven L.C. Pei

المصدر: The Lancet Regional Health: Western Pacific
The Lancet Regional Health. Western Pacific, Vol 1, Iss, Pp 100001-(2020)

مصطلحات موضوعية: medicine.medical_specialty, Rapid whole-exome sequencing, law.invention, Basic research, law, Health care, Internal Medicine, medicine, Prospective cohort study, Children, Exome sequencing, business.industry, Health Policy, lcsh:Public aspects of medicine, Precision medicine, Public Health, Environmental and Occupational Health, Obstetrics and Gynecology, lcsh:RA1-1270, Healthcare cost-savings, Intensive care unit, Psychiatry and Mental health, Infectious Diseases, Paediatric, Pediatrics, Perinatology and Child Health, Emergency medicine, Geriatrics and Gerontology, Genetic diagnosis, business, Rare disease, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c7ae2f069926067a22700b40980e209Test
http://europepmc.org/articles/PMC8315561Test

المؤلفون: Ryan, Conor S., Fine, Anthony L., Cohen, Alexander L., Schiltz, Brenda M., Renaud, Deborah L., Wirrell, Elaine C., Patterson, Marc C., Boczek, Nicole J., Liu, Raymond, Babovic-Vuksanovic, Dusica, Chan, David C., Payne, Eric T.

المصدر: Journal of Child Neurology, 33(10), 651-658, (2018-09-01)

مصطلحات موضوعية: mitochondrial disease, paroxysmal dyskinesia, rapid whole exome sequencing, refractory status epilepticus

العلاقة: https://doi.org/10.1177/0883073818778203Test; oai:authors.library.caltech.edu:rmc9k-xqb85; eprintid:86957; resolverid:CaltechAUTHORS:20180611-081026318

الإتاحة: https://doi.org/10.1177/0883073818778203Test