Clinical whole exome sequencing in child neurology practice.
about
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderDiagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseGRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersPrecision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.A diagnostic approach for cerebral palsy in the genomic era.Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Genetic basis of pediatric epilepsy syndromes.A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseasesDe novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesWhole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersEmergency medical genomes: a breakthrough application of precision medicine.De novo point mutations in patients diagnosed with ataxic cerebral palsy.A genome sequencing program for novel undiagnosed diseases.Nuclear-mitochondrial proteins: too much to process?A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.Clinical exome sequencing in neurogenetic and neuropsychiatric disordersLow Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders.A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.Clinical exome sequencing in neurologic disease.Orthogonal NGS for High Throughput Clinical Diagnostics.A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.Whole exome sequencing in patients with white matter abnormalities.Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.Evolution in the Understanding of Autism Spectrum Disorder: Historical Perspective.The evolving spectrum of PRRT2-associated paroxysmal diseases.Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyEffectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.
P2860
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P2860
Clinical whole exome sequencing in child neurology practice.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
Clinical whole exome sequencing in child neurology practice.
@en
Clinical whole exome sequencing in child neurology practice.
@nl
type
label
Clinical whole exome sequencing in child neurology practice.
@en
Clinical whole exome sequencing in child neurology practice.
@nl
prefLabel
Clinical whole exome sequencing in child neurology practice.
@en
Clinical whole exome sequencing in child neurology practice.
@nl
P2093
P2860
P356
P1433
P1476
Clinical whole exome sequencing in child neurology practice
@en
P2093
Ali Fatemi
Julie S Cohen
Kristin Barañano
Leila Jamal
Rebecca McClellan
SakkuBai Naidu
Siddharth Srivastava
P2860
P304
P356
10.1002/ANA.24251
P577
2014-08-30T00:00:00Z