CLTC as a clinically novel gene associated with multiple malformations and developmental delay
出版年份 2016 全文链接
标题
CLTC
as a clinically novel gene associated with multiple malformations and developmental delay
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 4, Pages 958-966
出版商
Wiley
发表日期
2016-01-29
DOI
10.1002/ajmg.a.37506
参考文献
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。- Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
- (2014) Kelly D. Farwell et al. GENETICS IN MEDICINE
- Clathrin light chains are required for the gyrating-clathrin recycling pathway and thereby promote cell migration
- (2014) Sophia R. Majeed et al. Nature Communications
- Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
- (2013) Suleyman Gulsuner et al. CELL
- Activities at the Universal Protein Resource (UniProt)
- (2013) NUCLEIC ACIDS RESEARCH
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Diversity of Clathrin Function: New Tricks for an Old Protein
- (2012) Frances M. Brodsky Annual Review of Cell and Developmental Biology
- Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness
- (2012) NA Hanchard et al. CLINICAL GENETICS
- Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing
- (2012) Hanan E. Shamseldin et al. GENETICS IN MEDICINE
- Clinical application of exome sequencing in undiagnosed genetic conditions
- (2012) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- A Role for Silent Synapses in the Development of the Pathway from Layer 2/3 to 5 Pyramidal Cells in the Neocortex
- (2012) P. G. Anastasiades et al. JOURNAL OF NEUROSCIENCE
- Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
- (2012) A. Sailer et al. NEUROLOGY
- Exome Sequencing Can Improve Diagnosis and Alter Patient Management
- (2012) T. J. Dixon-Salazar et al. Science Translational Medicine
- Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism
- (2012) Maria H. Chahrour et al. PLoS Genetics
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities
- (2010) Blake C. Ballif et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
- (2010) Elizabeth A Worthey et al. GENETICS IN MEDICINE
- Preeclampsia and future maternal health
- (2010) David M Carty et al. JOURNAL OF HYPERTENSION
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Whole exome capture in solution with 3 Gbp of data
- (2010) Matthew N Bainbridge et al. GENOME BIOLOGY
- Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
- (2009) K. Ye et al. BIOINFORMATICS
- Clathrin mediates integrin endocytosis for focal adhesion disassembly in migrating cells
- (2009) Ellen J. Ezratty et al. JOURNAL OF CELL BIOLOGY
- Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
- (2009) Andreas Gnirke et al. NATURE BIOTECHNOLOGY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- The Global Impact of Pre-eclampsia and Eclampsia
- (2009) Lelia Duley SEMINARS IN PERINATOLOGY
- The Human Gene Mutation Database: 2008 update
- (2009) Peter D Stenson et al. Genome Medicine
- A meta-analysis of nonsense mutations causing human genetic disease
- (2008) Matthew Mort et al. HUMAN MUTATION
- Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake
- (2008) Jaroslaw Kasprowicz et al. JOURNAL OF CELL BIOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More