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。Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
Aaron M. Wenger et al.
GENETICS IN MEDICINE (2017)
Prevalence and architecture of de novo mutations in developmental disorders
Jeremy F. McRae et al.
NATURE (2017)
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K. Eldomery et al.
GENOME MEDICINE (2017)
Genomic diagnosis for children with intellectual disability and/or developmental delay
Kevin M. Bowling et al.
GENOME MEDICINE (2017)
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
Ilaria Guella et al.
NEUROLOGY-GENETICS (2016)
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X. Chong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly
M. Srour et al.
CLINICAL GENETICS (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)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor et al.
NATURE GENETICS (2015)
A Comprehensive Genomic Approach for Neuromuscular Diseases Gives a High Diagnostic Yield
Arunkanth Ankala et al.
ANNALS OF NEUROLOGY (2015)
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
Daniel A. King et al.
GENOME RESEARCH (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
NCBI's Database of Genotypes and Phenotypes: dbGaP
Kimberly A. Tryka et al.
NUCLEIC ACIDS RESEARCH (2014)
分享论文
