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。Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Ange-Line Bruel et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
Philippine Garret et al.
HUMAN MUTATION (2019)
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
Ana Fernandez-Marmiesse et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2019)
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
Ange-Line Bruel et al.
GENETICS IN MEDICINE (2019)
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Sophie Nambot et al.
GENETICS IN MEDICINE (2018)
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
Brett Trost et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders
Solveig Montaut et al.
JAMA NEUROLOGY (2018)
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
K. Splinter et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Clinical application of whole-exome sequencing across clinical indications
Kyle Retterer et al.
GENETICS IN MEDICINE (2016)
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
J. Thevenon et al.
CLINICAL GENETICS (2016)
Imprinting: the Achilles heel of trio-based exome sequencing
Emmelien Aten et al.
GENETICS IN MEDICINE (2016)
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients
Maya Kuperberg et al.
JOURNAL OF CHILD NEUROLOGY (2016)
Exome sequencing and whole genome sequencing for the detection of copy number variation
Jayne Y. Hehir-Kwa et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
Gudrun Schottmann et al.
NEUROLOGY-GENETICS (2015)
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
Julien Thevenon et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
Brent L. Fogel et al.
JAMA NEUROLOGY (2014)
Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing
Angela Pyle et al.
ARCHIVES OF NEUROLOGY (2012)
APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease
Joris A. Veltman et al.
NATURE REVIEWS GENETICS (2012)
Exome Sequencing Allows for Rapid Gene Identification in a Charcot-Marie-Tooth Family
Gladys Montenegro et al.
ANNALS OF NEUROLOGY (2011)
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
Jun Ling Wang et al.
BRAIN (2010)
Exome sequencing identifies the cause of a mendelian disorder
Sarah B. Ng et al.
NATURE GENETICS (2010)
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Jane O. Johnson et al.
NEURON (2010)
Cerebellar ataxias
Mario Manto et al.
CURRENT OPINION IN NEUROLOGY (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations
AL Gropman
MITOCHONDRION (2004)
分享论文
