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。HomSI: a homozygous stretch identifier from next-generation sequencing data
Zeliha Gormez et al.
BIOINFORMATICS (2014)
Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number
Wen F. Hu et al.
NEURON (2014)
LRP1 Protects the Vasculature by Regulating Levels of Connective Tissue Growth Factor and HtrA1
Selen C. Muratoglu et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2013)
Fission Yeast Leucine-Rich Repeat Protein Lrp1 Is Essential for Cell Morphogenesis as a Component of the Morphogenesis Orb6 Network (MOR)
Kazunori Kume et al.
BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY (2013)
A LewisX Glycoprotein Screen Identifies the Low Density Lipoprotein Receptor-related Protein 1 (LRP1) as a Modulator of Oligodendrogenesis in Mice
Eva Hennen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
New point mutation in Golga3 causes multiple defects in spermatogenesis
L. F. Bentson et al.
ANDROLOGY (2013)
POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
Ranad Shaheen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
Ofer Sarig et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families
Stavit A. Shalev et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
Ersan Kalay et al.
NATURE GENETICS (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan et al.
BIOINFORMATICS (2010)
ProPhylER: A curated online resource for protein function and structure based on evolutionary constraint analyses
Jonathan Binkley et al.
GENOME RESEARCH (2010)
Novel CENPJ mutation causes Seckel syndrome
Mohammed S. Al-Dosari et al.
JOURNAL OF MEDICAL GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Protein structure prediction on the Web: a case study using the Phyre server
Lawrence A. Kelley et al.
NATURE PROTOCOLS (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
Elen Griffith et al.
NATURE GENETICS (2008)
NMRShiftDB - Constructing a free chemical information system with open-source components
C Steinbeck et al.
JOURNAL OF CHEMICAL INFORMATION AND COMPUTER SCIENCES (2003)
分享论文
