| scholarly article | Q13442814 |
| P50 | author | Eric J. Topol | Q5387640 |
| Ali Torkamani | Q59707804 | ||
| P2093 | author name string | Sarah E Topol | |
| Manuel Rueda | |||
| Evan D Muse | |||
| Emily G Spencer | |||
| Elias L Salfati | |||
| Jonathan R Lucas | |||
| Glenn N Wagner | |||
| Steven Campman | |||
| P2860 | cites work | Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia | Q24293635 |
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy | Q28267002 | ||
| Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature | Q28275605 | ||
| A framework for variation discovery and genotyping using next-generation DNA sequencing data | Q29547262 | ||
| De novo KCNB1 mutations in epileptic encephalopathy | Q30591125 | ||
| From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline | Q30872351 | ||
| Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. | Q31116359 | ||
| Molecular Autopsy for Sudden Unexpected Death. | Q33828768 | ||
| 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 | ||
| Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 | ||
| Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies | Q35221430 | ||
| A genome sequencing program for novel undiagnosed diseases. | Q36074256 | ||
| Epidemiology and genetics of sudden cardiac death | Q36102464 | ||
| Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome | Q37030724 | ||
| Molecular genetics of atrial fibrillation | Q37210003 | ||
| Identification of CANT1 mutations in Desbuquois dysplasia | Q37417858 | ||
| Introducing rare diseases | Q37590287 | ||
| Lessons learned from additional research analyses of unsolved clinical exome cases | Q37715741 | ||
| Clinical application of whole-exome sequencing across clinical indications | Q41075733 | ||
| Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. | Q45951588 | ||
| Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders | Q47547338 | ||
| 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 | ||
| Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits | Q57168422 | ||
| Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease | Q57180808 | ||
| Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested | Q58087964 | ||
| The ACMG/AMP reputable source criteria for the interpretation of sequence variants | Q88066450 | ||
| Prevalence and properties of intragenic copy-number variation in Mendelian disease genes | Q89081834 | ||
| Automated Clinical Exome Reanalysis Reveals Novel Diagnoses | Q90708220 | ||
| Ranking of non-coding pathogenic variants and putative essential regions of the human genome | Q91361875 | ||
| Reanalysis of Clinical Exome Sequencing Data | Q92877560 | ||
| P433 | issue | 1 | |
| P304 | page(s) | 83 | |
| P577 | publication date | 2019-12-17 | |
| P1433 | published in | Genome Medicine | Q15816848 |
| P1476 | title | Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases | |
| P478 | volume | 11 |
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