Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
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Y. Lau | B. Chung | M. Chan | S. L. Lee | G. C. Chan | C. Fung | W. Wong | C. C. Mak | G. Leung | R. Wong | M. S. Wong | C. Y. Chung | Vivian C C Hui | M. Tsang | Kit San Yeung | Y. Ng | K. Lun | S. Pei | J. C. Chan | Mianne Lee | J. Fung | J. Tung | Mullin HC Yu | J. F. Chau | J. Chan | Mabel Siu-Chun Wong | C. Mak
[1] Xinran Dong,et al. Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China , 2020, Human Genetics.
[2] Y. Chien,et al. Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses. , 2019, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.
[3] Kiely N. James,et al. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. , 2019, American journal of human genetics.
[4] Y. Chien,et al. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese , 2019, npj Genomic Medicine.
[5] S. Kingsmore,et al. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. , 2019, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.
[6] M. Farrer,et al. RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges , 2019, European Journal of Pediatrics.
[7] M. Relling,et al. Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update , 2019, Clinical pharmacology and therapeutics.
[8] John Reynders,et al. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation , 2019, Science Translational Medicine.
[9] Sri V. V. Deevi,et al. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children , 2019, Intensive Care Medicine.
[10] B. Chung,et al. Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets , 2018, Orphanet Journal of Rare Diseases.
[11] S. Kingsmore,et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases , 2018, npj Genomic Medicine.
[12] S. Kingsmore,et al. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization , 2018, npj Genomic Medicine.
[13] V. Speare,et al. Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis , 2018, Genetics in Medicine.
[14] M. Bitner-Glindzicz,et al. Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children , 2018, Journal of Medical Genetics.
[15] Melbourne Genomics Health Alliance,et al. Meeting the challenges of implementing rapid genomic testing in acute pediatric care , 2018, Genetics in Medicine.
[16] Laurie D. Smith,et al. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants , 2017, npj Genomic Medicine.
[17] David R. FitzPatrick,et al. Paediatric genomics: diagnosing rare disease in children , 2018, Nature Reviews Genetics.
[18] B. Chung,et al. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism , 2017, Molecular Autism.
[19] Fan Xia,et al. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management , 2017, JAMA pediatrics.
[20] J. Rivière,et al. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. , 2017, European journal of medical genetics.
[21] Birgit Sikkema-Raddatz,et al. Rapid Targeted Genomics in Critically Ill Newborns , 2017, Pediatrics.
[22] Clara Gaff,et al. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions , 2017, JAMA pediatrics.
[23] J. Bernstein,et al. Angioedema in the emergency department: a practical guide to differential diagnosis and management , 2017, International Journal of Emergency Medicine.
[24] Clara Gaff,et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement , 2017, Genetics in Medicine.
[25] N. Spinner,et al. Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome , 2016, Liver international : official journal of the International Association for the Study of the Liver.
[26] Laurie D. Smith,et al. Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders. , 2016, Cold Spring Harbor perspectives in medicine.
[27] Laurie D. Smith,et al. Rapid whole genome sequencing and precision neonatology. , 2015, Seminars in perinatology.
[28] Laurie D. Smith,et al. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. , 2015, The Lancet. Respiratory medicine.
[29] Bale,et al. 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 , 2015, Genetics in Medicine.
[30] Xuan Yuan,et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders , 2014, Science Translational Medicine.
[31] David T. Miller,et al. Chromosomal microarray impacts clinical management , 2014, Clinical genetics.
[32] Peter Saffrey,et al. Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units , 2012, Science Translational Medicine.
[33] S. Uchida,et al. [Pseudohypoaldosteronism type II]. , 2011, Nihon Jinzo Gakkai shi.
[34] C1 esterase inhibitor (human). , 2010, P & T : a peer-reviewed journal for formulary management.
[35] M. Avigan,et al. Finding, evaluating, and managing drug‐related risks: approaches taken by the US Food and Drug Administration (FDA) , 2009, Dermatologic therapy.
[36] Bernadette Modell,et al. March of Dimes: global report on birth defects, the hidden toll of dying and disabled children. , 2005 .
[37] W. Mcalister,et al. Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome , 2005, Pediatric Radiology.
[38] H. Kong. The Government of the Hong Kong Special Administrative Region , 2002 .