| scholarly article | Q13442814 |
| P50 | author | David T. Miller | Q91603806 |
| P2093 | author name string | Jun Shen | |
| Jennifer Malinowski | |||
| Anne Chun-Hui Tsai | |||
| Maren T Scheuner | |||
| Molly C Schroeder | |||
| Scott E Hickey | |||
| Laurie Demmer | |||
| ACMG Professional Practice and Guidelines Committee | |||
| Elaine Maria Pereira | |||
| Jennifer Gannon | |||
| P2860 | cites work | Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities | Q28296227 |
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
| Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation | Q29615706 | ||
| Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders | Q34866575 | ||
| Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. | Q35043876 | ||
| Exome sequencing can improve diagnosis and alter patient management | Q35641969 | ||
| Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings | Q35776062 | ||
| Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. | Q35910407 | ||
| Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth | Q36292736 | ||
| Rapid whole genome sequencing and precision neonatology | Q36315024 | ||
| Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios | Q36686140 | ||
| Exome Sequencing and the Management of Neurometabolic Disorders. | Q37171865 | ||
| Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care | Q37316405 | ||
| Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands | Q37441813 | ||
| Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. | Q37716314 | ||
| Diagnostic value of exome and whole genome sequencing in craniosynostosis | Q37720856 | ||
| Effect of Kasai procedure on hepatic outcome in Alagille syndrome | Q37770048 | ||
| Diagnosis and management of epileptic encephalopathies in children | Q38130936 | ||
| Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. | Q38625091 | ||
| Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis | Q38728522 | ||
| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders | Q38802675 | ||
| A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology | Q38883296 | ||
| The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. | Q38933635 | ||
| Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. | Q38960113 | ||
| Defining personal utility in genomics: A Delphi study | Q39144213 | ||
| Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing | Q40049687 | ||
| Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. | Q40117585 | ||
| Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder | Q40588093 | ||
| Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. | Q45951588 | ||
| Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic | Q46225649 | ||
| Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield | Q46231160 | ||
| Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. | Q47681796 | ||
| Rapid Targeted Genomics in Critically Ill Newborns. | Q47938423 | ||
| Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. | Q48205060 | ||
| Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach | Q49206263 | ||
| The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. | Q49581003 | ||
| Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease | Q49885004 | ||
| Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. | Q50260153 | ||
| Clinical whole exome sequencing in child neurology practice. | Q50305196 | ||
| 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 | ||
| Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis. | Q52346500 | ||
| Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. | Q52592806 | ||
| Consolidated Health Economic Evaluation Reporting Standards (CHEERS) statement | Q56880246 | ||
| Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases | Q57183031 | ||
| Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions | Q58087959 | ||
| Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico | Q63246471 | ||
| Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children | Q64040030 | ||
| Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea | Q64228110 | ||
| Meeting the challenges of implementing rapid genomic testing in acute pediatric care | Q88066441 | ||
| Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature | Q88671191 | ||
| Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases | Q90014721 | ||
| Clinical genome sequencing in an unbiased pediatric cohort | Q90218044 | ||
| Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong | Q92568641 | ||
| Favourite prescriptions in general practice | Q93847992 | ||
| P921 | main subject | disability affecting intellectual abilities | Q3317827 |
| intellectual disability | Q183560 | ||
| whole genome sequencing | Q2068526 | ||
| P577 | publication date | 2020-03-23 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability |
| Q99557464 | Clinical impact of genomic testing in patients with suspected monogenic kidney disease | cites work | P2860 |
Search more.