De novo mutations in regulatory elements in neurodevelopmental disorders
暂无分享,去创建一个
Patrick J. Short | M. Hurles | D. Geschwind | J. Barrett | H. Firth | J. McRae | H. Won | C. Wright | G. Gallone | A. Sifrim | D. FitzPatrick
[1] C. Cotsapas,et al. Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease. , 2017, American journal of human genetics.
[2] H. Kang,et al. Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans , 2017, Nature Communications.
[3] Joan,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[4] Yaoqi Zhou,et al. Predicting the errors of predicted local backbone angles and non-local solvent- accessibilities of proteins by deep neural networks , 2016, Bioinform..
[5] Bing He,et al. EnhancerAtlas: a resource for enhancer annotation and analysis in 105 human cell/tissue types , 2016, Bioinform..
[6] Tudor Groza,et al. The Human Phenotype Ontology in 2017 , 2016, Nucleic Acids Res..
[7] Daning Lu,et al. Chromosome conformation elucidates regulatory relationships in developing human brain , 2016, Nature.
[8] Stefan Mundlos,et al. Looking beyond the genes: the role of non-coding variants in human disease. , 2016, Human molecular genetics.
[9] Giorgio Valentini,et al. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. , 2016, American journal of human genetics.
[10] K. Pollard,et al. Enhancer–promoter interactions are encoded by complex genomic signatures on looping chromatin , 2016, Nature Genetics.
[11] C. Baker,et al. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. , 2016, American journal of human genetics.
[12] David J. Arenillas,et al. JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles , 2015, Nucleic Acids Res..
[13] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[14] Morad Ansari,et al. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families , 2015, Nature Genetics.
[15] J. Lupski,et al. Non-coding genetic variants in human disease. , 2015, Human molecular genetics.
[16] David I. Wilson,et al. Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome , 2015, Nature Communications.
[17] Alejandro Sifrim,et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data , 2015, The Lancet.
[18] W. Wasserman,et al. Identification of altered cis-regulatory elements in human disease. , 2015, Trends in genetics : TIG.
[19] Michael Q. Zhang,et al. Integrative analysis of 111 reference human epigenomes , 2015, Nature.
[20] Colin Campbell,et al. An integrative approach to predicting the functional effects of non-coding and coding sequence variation , 2015, Bioinform..
[21] R. Handsaker,et al. Genetic Variation in Human DNA Replication Timing , 2014, Cell.
[22] Stephan J Sanders,et al. A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.
[23] T. Meehan,et al. An atlas of active enhancers across human cell types and tissues , 2014, Nature.
[24] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[25] Margaret B. Fish,et al. Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. , 2013, American journal of human genetics.
[26] S. Horvath,et al. Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism , 2013, Cell.
[27] Anna Murray,et al. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis , 2013, Nature Genetics.
[28] Arthur Wuster,et al. DeNovoGear: de novo indel and point mutation discovery and phasing , 2013, Nature Methods.
[29] Robert Gentleman,et al. Software for Computing and Annotating Genomic Ranges , 2013, PLoS Comput. Biol..
[30] L. Lettice,et al. Alterations to the remote control of Shh gene expression cause congenital abnormalities , 2013, Philosophical Transactions of the Royal Society B: Biological Sciences.
[31] Ellen T. Gelfand,et al. The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.
[32] Shane J. Neph,et al. Systematic Localization of Common Disease-Associated Variation in Regulatory DNA , 2012, Science.
[33] J. Dekker,et al. The long-range interaction landscape of gene promoters , 2012, Nature.
[34] Bronwen L. Aken,et al. GENCODE: The reference human genome annotation for The ENCODE Project , 2012, Genome research.
[35] Manolis Kellis,et al. ChromHMM: automating chromatin-state discovery and characterization , 2012, Nature Methods.
[36] A. Visel,et al. Large-Scale Discovery of Enhancers from Human Heart Tissue , 2011, Nature Genetics.
[37] A. Munnich,et al. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development , 2011, Journal of Medical Genetics.
[38] A. Gylfason,et al. Fine-scale recombination rate differences between sexes, populations and individuals , 2010, Nature.
[39] A. McCallion,et al. Genomics of long-range regulatory elements. , 2010, Annual review of genomics and human genetics.
[40] A. Visel,et al. ChIP-Seq identification of weakly conserved heart enhancers , 2010, Nature Genetics.
[41] F. Collins,et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits , 2009, Proceedings of the National Academy of Sciences.
[42] Xia Li,et al. Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein , 2008, Nature Genetics.
[43] Shamil R Sunyaev,et al. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. , 2007, American journal of human genetics.
[44] Inna Dubchak,et al. VISTA Enhancer Browser—a database of tissue-specific human enhancers , 2006, Nucleic Acids Res..
[45] D. Haussler,et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. , 2005, Genome research.
[46] Boris Lenhard,et al. Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes , 2004, BMC Genomics.
[47] A. Hattersley,et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis , 2004, Nature Genetics.
[48] Jean YH Yang,et al. Bioconductor: open software development for computational biology and bioinformatics , 2004, Genome Biology.
[49] B. Oostra,et al. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. , 2003, Human molecular genetics.
[50] V. Marx,et al. The author file: John Yates III. , 2013, Nature Methods.
[51] K. Pollard,et al. Detection of nonneutral substitution rates on mammalian phylogenies. , 2010, Genome research.
[52] RESEARCH ARTICLE Open Access Research article Motif Enrichment Analysis: a unified framework , 2022 .