| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/S41436-019-0708-6 |
| P698 | PubMed publication ID | 31780822 |
| P50 | author | Timothy W Yu | Q37650543 |
| P2093 | author name string | Alan H Beggs | |
| Pankaj B Agrawal | |||
| Richard B Parad | |||
| Jane Juusola | |||
| Jill A Madden | |||
| Olaf Bodamer | |||
| Joan Stoler | |||
| Cynthia S Gubbels | |||
| Sandra Yang | |||
| Monica H Wojcik | |||
| Casie A Genetti | |||
| Deborah Copenheaver | |||
| Nina B Gold | |||
| Grace E VanNoy | |||
| Sergei Roumiantsev | |||
| P2860 | cites work | Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes | Q93065839 |
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| Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units | Q34820081 | ||
| Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings | Q35776062 | ||
| Rapid whole genome sequencing and precision neonatology | Q36315024 | ||
| Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome | Q36439344 | ||
| Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit | Q37162309 | ||
| Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. | Q38997779 | ||
| Mitochondrial DNA maintenance defects | Q39142779 | ||
| GeneMatcher: a matching tool for connecting investigators with an interest in the same gene | Q40250282 | ||
| Clinical application of whole-exome sequencing across clinical indications | Q41075733 | ||
| Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study | Q46107584 | ||
| A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study | Q47577667 | ||
| SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation | Q47767419 | ||
| Rapid Targeted Genomics in Critically Ill Newborns. | Q47938423 | ||
| Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy | Q48420142 | ||
| The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. | Q49581003 | ||
| Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. | Q50260153 | ||
| The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 | ||
| Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family. | Q51021865 | ||
| Clinical delineation of the PACS1-related syndrome--Report on 19 patients. | Q52144735 | ||
| Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. | Q52592806 | ||
| A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. | Q52756110 | ||
| Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project | Q57157559 | ||
| Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project | Q63614921 | ||
| Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children | Q64040030 | ||
| Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease | Q64040152 | ||
| Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children | Q64044069 | ||
| Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. | Q64984103 | ||
| IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration | Q89161837 | ||
| Current conditions in medical genetics practice | Q91241919 | ||
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| De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia | Q92055521 | ||
| RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges | Q92575437 | ||
| P433 | issue | 4 | |
| P304 | page(s) | 736-744 | |
| P577 | publication date | 2019-11-29 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield | |
| P478 | volume | 22 |
| Q94923726 | Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants |
| Q101403684 | Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing |
| Q89697525 | Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism |
| Q99548369 | The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? |
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