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。Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
Elizabeth A. Worthey et al.
GENETICS IN MEDICINE (2011)
A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease
Gueney Bademci et al.
HUMAN MUTATION (2010)
Challenges in the clinical application of whole-genome sequencing
Kelly E. Ormond et al.
LANCET (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
James R. Lupski et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors
Steven J. M. Jones et al.
GENOME BIOLOGY (2010)
Genome sequencing reveals Charcot-Marie-Tooth disease mutation
[Anonymous]
FUTURE NEUROLOGY (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
Fabienne Clot et al.
BRAIN (2009)
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
Kevin Judd McKernan et al.
GENOME RESEARCH (2009)
BFAST: An Alignment Tool for Large Scale Genome Resequencing
Nils Homer et al.
PLOS ONE (2009)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
GENETICS IN MEDICINE (2008)
The complete genome of an individual by massively parallel DNA sequencing
David A. Wheeler et al.
NATURE (2008)
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency
Jennifer Friedman et al.
NEUROLOGY (2006)
Sepiapterin reductase deficiency:: Clinical presentation and evaluation of long-term therapy
Bernard Echenne et al.
PEDIATRIC NEUROLOGY (2006)
Current concepts - Dystonia
Daniel Tarsy et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
SNPdetector: A software tool for sensitive and accurate SNP detection
JH Zhang et al.
PLOS COMPUTATIONAL BIOLOGY (2005)
The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003
B Boeckmann et al.
NUCLEIC ACIDS RESEARCH (2003)
Classification and genetics of dystonia
PMD Aguiar et al.
LANCET NEUROLOGY (2002)
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
L Bonafé et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
分享论文
