| scholarly article | Q13442814 |
| P2093 | author name string | A McConkie-Rosell | |
| D B Goldstein | |||
| Y H Jiang | |||
| M T McDonald | |||
| K Schoch | |||
| V Shashi | |||
| C Rehder | |||
| V Kasturi | |||
| P2860 | cites work | Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta | Q24594147 |
| Clinical application of exome sequencing in undiagnosed genetic conditions | Q24604127 | ||
| Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
| De novo mutations in epileptic encephalopathies | Q24621776 | ||
| XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing | Q24632796 | ||
| Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease | Q28301461 | ||
| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 | ||
| Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome | Q33677104 | ||
| ACMG clinical laboratory standards for next-generation sequencing | Q33903280 | ||
| Whole-genome sequencing and the clinician: a tale of two cities | Q34092299 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units | Q34820081 | ||
| Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 | ||
| Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements | Q37622793 | ||
| Unlocking Mendelian disease using exome sequencing | Q37932636 | ||
| Diagnostic clinical genome and exome sequencing | Q38221192 | ||
| Genetic counselors' views and experiences with the clinical integration of genome sequencing | Q39222177 | ||
| The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders | Q45225641 | ||
| De novo mutations of SETBP1 cause Schinzel-Giedion syndrome | Q45340629 | ||
| Views of primary care providers regarding the return of genome sequencing incidental findings | Q48081855 | ||
| The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 | ||
| A de novo paradigm for mental retardation. | Q51828800 | ||
| Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 | ||
| P433 | issue | 2 | |
| P304 | page(s) | 173-181 | |
| P577 | publication date | 2015-02-12 | |
| P1433 | published in | Clinical Genetics | Q5133760 |
| P1476 | title | Practical considerations in the clinical application of whole-exome sequencing | |
| P478 | volume | 89 |
| Q38820327 | A Clinician's perspective on clinical exome sequencing. |
| Q94521641 | Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses |
| Q88671191 | Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature |
| Q37599237 | Clinical exome sequencing: results from 2819 samples reflecting 1000 families. |
| Q100946546 | Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science |
| Q57386634 | Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? |
| Q38846804 | Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing. |
| Q47278375 | Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact |
| Q36890898 | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer |
| Q38981138 | Family-Specific Variants and the Limits of Human Genetics |
| Q47200436 | Genomic medicine for kidney disease |
| Q36286855 | Genomic newborn screening: public health policy considerations and recommendations |
| Q92586260 | Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach |
| Q92503067 | Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines |
| Q38636847 | Inflammatory Bowel Disease: Genetics, Epigenetics, and Pathogenesis. |
| Q47632310 | Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders |
| Q61449916 | Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease |
| Q64057724 | Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy |
| Q49933290 | The Actionability of Exome sequencing testing results |
| Q38933635 | The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. |
| Q48255162 | The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene. |
| Q40451424 | The Rise and Rise of Exome Sequencing. |
| Q50195466 | The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study |
| Q38993286 | Unsolved challenges in pediatric whole-exome sequencing: A literature analysis |
| Q28597904 | Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views |
Search more.