相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Joery den Hoed et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care
David Dimmock et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
A new D-galactose treatment monitoring index for PGM1-CDG
Ester Perales-Clemente et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S. Gubbels et al.
GENETICS IN MEDICINE (2020)
Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China
Huijun Wang et al.
HUMAN GENETICS (2020)
Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants
Huijun Wang et al.
NPJ GENOMIC MEDICINE (2020)
Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders
Abigail S. Carey et al.
PEDIATRIC RESEARCH (2020)
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Sebastian Lunke et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2020)
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
Robert Smigiel et al.
JOURNAL OF CLINICAL MEDICINE (2020)
Arioc: High-concurrency short-read alignment on multiple GPUs
Richard Wilton et al.
PLOS COMPUTATIONAL BIOLOGY (2020)
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Courtney E. French et al.
INTENSIVE CARE MEDICINE (2019)
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Michelle M. Clark et al.
SCIENCE TRANSLATIONAL MEDICINE (2019)
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges
Alison M. Elliott et al.
EUROPEAN JOURNAL OF PEDIATRICS (2019)
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Siddharth Srivastava et al.
GENETICS IN MEDICINE (2019)
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*
Erica F. Sanford et al.
PEDIATRIC CRITICAL CARE MEDICINE (2019)
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in III Infants
Stephen F. Kingsmore et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation
Santoshi Billakota et al.
EPILEPSIA (2019)
Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care
Kate F. Kernan et al.
PEDIATRIC CRITICAL CARE MEDICINE (2019)
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Zornitza Stark et al.
GENETICS IN MEDICINE (2018)
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Tamar E. Sztal et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2018)
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes et al.
NPJ GENOMIC MEDICINE (2018)
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E. Petrikin et al.
NPJ GENOMIC MEDICINE (2018)
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
Lamia Mestek-Boukhibar et al.
JOURNAL OF MEDICAL GENETICS (2018)
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin et al.
NATURE GENETICS (2017)
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
Aurelie Bourchany et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)
Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam A case report
Yi Zhang et al.
MEDICINE (2017)
Rapid Targeted Genomics in Critically Ill Newborns
Cleo C. van Diemen et al.
PEDIATRICS (2017)
Use of Exome Sequencing for Infants in Intensive Care Units Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng et al.
JAMA PEDIATRICS (2017)
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Dimitri J. Stavropoulos et al.
NPJ GENOMIC MEDICINE (2016)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
Aziz Belkadi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Rapid whole genome sequencing and precision neonatology
Joshua E. Petrikin et al.
SEMINARS IN PERINATOLOGY (2015)
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
Laurel K. Willig et al.
LANCET RESPIRATORY MEDICINE (2015)
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Sarah E. Soden et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Carol Jean Saunders et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Dietary L-tyrosine supplementation in Nemaline myopathy
Monique M. Ryan et al.
JOURNAL OF CHILD NEUROLOGY (2008)
分享论文
