Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia
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Xu Zhou | Xin Li | Jun Yu | Jintian Hu | Xiaoqun Dong | Qingguo Zhang | Jiqiang Liu | Xu Zhou | Jun Yu | Yong-biao Zhang | Panpan Wang | Tingting Wu | Xiaoqun Dong | Mingliang Gu | Yong-Biao Zhang | Panpan Wang | Tingting Wu | Jiao Zhang | Chaohao Gu | Tun Liu | Yangchun Xie | Mingliang Gu | Jin Qian | Yue Wang | Xin Li | Tun Liu | Qingguo Zhang | Ji-Qiang Liu | Chaohao Gu | Jintian Hu | Jiao Zhang | J. Qian | Yang-chun Xie | Yue Wang
[1] Tsun-Po Yang,et al. Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies , 2010, Bioinform..
[2] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[3] G. Abecasis,et al. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies , 2006, Nature Genetics.
[4] S. Nishikawa,et al. ARID3B induces malignant transformation of mouse embryonic fibroblasts and is strongly associated with malignant neuroblastoma. , 2006, Cancer research.
[5] M. Tekin,et al. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia , 2008, Clinical genetics.
[6] J. Hirschhorn,et al. Biological interpretation of genome-wide association studies using predicted gene functions , 2015, Nature Communications.
[7] P. Visscher,et al. GCTA: a tool for genome-wide complex trait analysis. , 2011, American journal of human genetics.
[8] Olivier Michielin,et al. Defining and searching for structural motifs using DeepView/Swiss-PdbViewer , 2012, BMC Bioinformatics.
[9] F. Rosa,et al. Requirement for endoderm and FGF3 in ventral head skeleton formation. , 2002, Development.
[10] M. Gambello,et al. Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002. , 2008, Birth defects research. Part A, Clinical and molecular teratology.
[11] Thomas D. Schmittgen,et al. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.
[12] Christiana Ruhrberg,et al. Neuropilin 1 and 2 control cranial gangliogenesis and axon guidance through neural crest cells , 2008, Development.
[13] Teri A Manolio,et al. Cohort studies and the genetics of complex disease , 2009, Nature Genetics.
[14] S. Brunak,et al. SignalP 4.0: discriminating signal peptides from transmembrane regions , 2011, Nature Methods.
[15] D. Low,et al. A Phenotypic Assessment Tool for Craniofacial Microsomia , 2011, Plastic and reconstructive surgery.
[16] A. Dror,et al. Mouse models to study inner ear development and hereditary hearing loss. , 2007, The International journal of developmental biology.
[17] M. Cunningham,et al. Microtia: Epidemiology and genetics , 2012, American journal of medical genetics. Part A.
[18] M. Werler,et al. Vasoactive exposures during pregnancy and risk of microtia. , 2013, Birth defects research. Part A, Clinical and molecular teratology.
[19] S. Rasmussen,et al. Examining the evidence for vascular pathogenesis of selected birth defects , 2010, American journal of medical genetics. Part A.
[20] P. Donnelly,et al. A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies , 2009, PLoS genetics.
[21] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[22] J. Partanen,et al. Fibroblast growth factor signalling and regional specification of the pharyngeal ectoderm. , 2005, The International journal of developmental biology.
[23] N. Byrd,et al. Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo. , 2005, Developmental biology.
[24] Michael Boehnke,et al. LocusZoom: regional visualization of genome-wide association scan results , 2010, Bioinform..
[25] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[26] D. Reich,et al. Population Structure and Eigenanalysis , 2006, PLoS genetics.
[27] Y. Uchijima,et al. Recombinase-mediated cassette exchange reveals the selective use of Gq/G11-dependent and -independent endothelin 1/endothelin type A receptor signaling in pharyngeal arch development , 2008, Development.
[28] M. Daly,et al. Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions , 2009, PLoS genetics.
[29] Lude Franke,et al. Genome-wide association analyses identify variants in developmental genes associated with hypospadias , 2014, Nature Genetics.
[30] Stephen D. Turner,et al. qqman: an R package for visualizing GWAS results using Q-Q and manhattan plots , 2014, bioRxiv.
[31] C. Deng,et al. Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. , 2001, Human molecular genetics.
[32] G. Shaw,et al. Association of microtia with maternal obesity and periconceptional folic acid use , 2010, American journal of medical genetics. Part A.
[33] Brad T. Sherman,et al. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources , 2008, Nature Protocols.
[34] Jun Yu,et al. Genome-Wide Linkage Study Suggests a Susceptibility Locus for Isolated Bilateral Microtia on 4p15.32–4p16.2 , 2014, PloS one.
[35] Shuhua Xu,et al. Genomic dissection of population substructure of Han Chinese and its implication in association studies. , 2009, American journal of human genetics.
[36] P. Trainor. Neural crest cells : evolution, development and disease , 2014 .
[37] Yun Li,et al. METAL: fast and efficient meta-analysis of genomewide association scans , 2010, Bioinform..
[38] Richard Durbin,et al. Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..
[39] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[40] R. Nagai,et al. Endothelial PAS Domain Protein 1 Gene Promotes Angiogenesis Through the Transactivation of Both Vascular Endothelial Growth Factor and Its Receptor, Flt-1 , 2004, Circulation research.
[41] J. Wallingford,et al. The shroom family proteins play broad roles in the morphogenesis of thickened epithelial sheets , 2009, Developmental dynamics : an official publication of the American Association of Anatomists.
[42] B. Keller. Epidemiology and Genetics , 2012 .
[43] Melissa L Harris,et al. Directing pathfinding along the dorsolateral path - the role of EDNRB2 and EphB2 in overcoming inhibition , 2008, Development.
[44] S. Nishikawa,et al. Microarray analysis of PDGFR alpha+ populations in ES cell differentiation culture identifies genes involved in differentiation of mesoderm and mesenchyme including ARID3b that is essential for development of embryonic mesenchymal cells. , 2006, Developmental biology.
[45] Jenna K. Zalewski,et al. The interaction between Shroom3 and Rho-kinase is required for neural tube morphogenesis in mice , 2014, Biology Open.
[46] G Van Camp,et al. Genetics of microtia and associated syndromes , 2009, Journal of Medical Genetics.
[47] Z. Bao,et al. Sema3D and Sema7A have distinct expression patterns in chick embryonic development , 2006, Developmental dynamics : an official publication of the American Association of Anatomists.
[48] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.
[49] T. Joshi,et al. Elongation Factor 1 alpha1 and Genes Associated with Usher Syndromes Are Downstream Targets of GBX2 , 2012, PloS one.
[50] J. Zhu,et al. [An epidemiological investigation of anotia and microtia in China during 1988-1992]. , 2000, Zhonghua er bi yan hou ke za zhi.
[51] Liam J. McGuffin,et al. The PSIPRED protein structure prediction server , 2000, Bioinform..
[52] James Douglas Engel,et al. Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis , 1995, Nature Genetics.
[53] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[54] Manolis Kellis,et al. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants , 2011, Nucleic Acids Res..
[55] Le Ma,et al. Slits affect the timely migration of neural crest cells via robo receptor , 2012, Developmental dynamics : an official publication of the American Association of Anatomists.
[56] O. Delaneau,et al. Supplementary Information for ‘ Improved whole chromosome phasing for disease and population genetic studies ’ , 2012 .
[57] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration , 2012, Briefings Bioinform..
[58] Xihong Lin,et al. Rare-variant association testing for sequencing data with the sequence kernel association test. , 2011, American journal of human genetics.