| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/S41436-020-0929-8 |
| P698 | PubMed publication ID | 32773771 |
| P50 | author | Alison Yeung | Q98287669 |
| Martin Delatycki | Q91487304 | ||
| P2093 | author name string | Ravi Savarirayan | |
| Sebastian Lunke | |||
| Clara Gaff | |||
| Belinda Chong | |||
| Ilias Goranitis | |||
| Lilian Downie | |||
| Zornitza Stark | |||
| Susan M White | |||
| Natasha Brown | |||
| Gemma R Brett | |||
| Giulia Valente | |||
| Natalie B Tan | |||
| Tiong Y Tan | |||
| Anna Jarmolowicz | |||
| Callum McEwan | |||
| Chloe Stutterd | |||
| Dean Phelan | |||
| George Mcgillivray | |||
| Matthew F Hunter | |||
| Matthew Regan | |||
| Melissa Martyn | |||
| Rachel Stapleton | |||
| Smitha Kumble | |||
| Yael Prawer | |||
| Yana Smagarinsky | |||
| P2860 | cites work | Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support | Q29547407 |
| The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort | Q33715614 | ||
| Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine | Q33736038 | ||
| The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes | Q33885438 | ||
| LOVD v.2.0: the next generation in gene variant databases | Q34180504 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 | ||
| Cpipe: a shared variant detection pipeline designed for diagnostic settings | Q35891648 | ||
| Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. | Q35910407 | ||
| Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care | Q37316405 | ||
| Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | Q38263926 | ||
| PhenoTips: patient phenotyping software for clinical and research use. | Q38490526 | ||
| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders | Q38802675 | ||
| Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. | Q38912161 | ||
| The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. | Q38933635 | ||
| Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. | Q38997779 | ||
| Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. | Q40117585 | ||
| The burden of genetic disease on inpatient care in a children's hospital | Q40542360 | ||
| Clinical application of whole-exome sequencing across clinical indications | Q41075733 | ||
| Preparing for genomic medicine: a real world demonstration of health system change | Q47136129 | ||
| Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. | Q47681796 | ||
| The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. | Q49581003 | ||
| Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. | Q49912348 | ||
| Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature | Q49985614 | ||
| Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. | Q50490378 | ||
| The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 | ||
| Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. | Q52622713 | ||
| Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness | Q58436885 | ||
| Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature | Q88671191 | ||
| A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis | Q92003477 | ||
| Reanalysis of Clinical Exome Sequencing Data | Q92877560 | ||
| Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing | Q92969795 | ||
| Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes | Q93065839 | ||
| P577 | publication date | 2020-08-10 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients |
Search more.