AR
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Inactivation of AMMECR1 is associated with growth, bone, and heart alterations | Human Mutation |  | 2018 | 592 | 311 | ||
| KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis | American Journal of Human Genetics | | 2018 | 595 | 338 | ||
| GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability | American journal of human genetics | | 2016 | 691 | 472 | ||
| Population Variation and Genetic Control of Modular Chromatin Architecture in Humans | Cell |  | 2015 | 518 | 0 | ||
| Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data | Bioinformatics | | 2014 | 518 | 0 | ||
| Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription | Science | | 2013 | 543 | 1 | ||
| Landscape of transcription in human cells | Nature | | 2012 | 887 | 799 | ||
| Evidence for transcript networks composed of chimeric RNAs in human cells | PloS one | | 2012 | 1,151 | 562 | ||
| A high-resolution anatomical atlas of the transcriptome in the mouse embryo | PLoS biology | | 2011 | 668 | 944 | ||
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | 2011 | 806 | 2 | ||
| Identifying protein-coding genes in genomic sequences | GenomeBiology.com | | 2009 | 671 | 387 | ||
| The genome sequence of taurine cattle: a window to ruminant biology and evolution | Science | | 2009 | 734 | 5 | ||
| Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls | Human mutation | | 2009 | 473 | 0 | ||
| Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells | GenomeBiology.com | | 2008 | 662 | 427 | ||
| Efficient targeted transcript discovery via array-based normalization of RACE libraries | Nature methods | | 2008 | 696 | 508 | ||
| Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase | European journal of human genetics | | 2008 | 635 | 0 | ||
| Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions | Genome research | | 2007 | 638 | 0 | ||
| Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution | Genome research | | 2007 | 545 | 0 | ||
| Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project | Nature | | 2007 | 712 | 655 | ||
| Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 | Genome research | | 2007 | 646 | 0 | ||
| Structured RNAs in the ENCODE selected regions of the human genome | Genome research | | 2007 | 586 | 0 | ||
| The implications of alternative splicing in the ENCODE protein complement | Proceedings of the National Academy of Sciences of the United States of America | | 2007 | 553 | 1 | ||
| Conserved noncoding sequences are selectively constrained and not mutation cold spots | Nature genetics | | 2006 | 697 | 0 | ||
| Tandem chimerism as a means to increase protein complexity in the human genome | Genome research | | 2006 | 617 | 0 | ||
| GENCODE: producing a reference annotation for ENCODE | GenomeBiology.com | | 2006 | 703 | 397 | ||
| EGASP: the human ENCODE Genome Annotation Assessment Project | GenomeBiology.com | | 2006 | 829 | 428 | ||
| Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions | Journal of medical genetics | | 2006 | 693 | 0 | ||
| Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes | American journal of human genetics | | 2006 | 684 | 0 | ||
| LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes | Human molecular genetics | | 2005 | 658 | 0 | ||
| Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro | Human mutation | | 2005 | 674 | 0 | ||
| Evolutionary comparison provides evidence for pathogenicity of RMRP mutations | PLOS genetics | | 2005 | 640 | 488 | ||
| Conserved non-genic sequences - an unexpected feature of mammalian genomes | Nature reviews. Genetics | | 2005 | 568 | 0 | ||
| Gene finding in the chicken genome | BMC bioinformatics | | 2005 | 668 | 280 | ||
| Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes | Nucleic acids research | | 2005 | 590 | 0 | ||
| A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein | Human genetics | | 2005 | 705 | 351 | ||
| Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin | Human mutation | | 2004 | 679 | 0 | ||
| Chromosome 21 and down syndrome: from genomics to pathophysiology | Nature reviews. Genetics | | 2004 | 794 | 0 | ||
| The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3 | Human molecular genetics | | 2004 | 602 | 0 | ||
| The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development | Genomics | | 2004 | 588 | 0 | ||
| Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment | Genome research | | 2004 | 613 | 0 | ||
| Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes | Proceedings of the National Academy of Sciences of the United States of America | | 2003 | 678 | 0 | ||
| Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | | 2003 | 652 | 0 | ||
| The TPTE gene family: cellular expression, subcellular localization and alternative splicing | Gene | | 2003 | 715 | 0 | ||
| Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) | Science | | 2003 | 645 | 0 | ||
| Chromosome 21 and Down syndrome: the post-sequence era | Cold Spring Harbor Symposia on Quantitative Biology | 2003 | 569 | 0 | |||
| Numerous potentially functional but non-genic conserved sequences on human chromosome 21 | Nature | | 2002 | 609 | 0 | ||
| Chromosome 21: a small land of fascinating disorders with unknown pathophysiology | The International journal of developmental biology | | 2002 | 551 | 0 | ||
| Nineteen additional unpredicted transcripts from human chromosome 21 | Genomics | | 2002 | 737 | 0 | ||
| Human chromosome 21 gene expression atlas in the mouse | Nature | | 2002 | 625 | 0 | ||
| The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro | Human molecular genetics | | 2002 | 651 | 0 | ||
| The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family | Human genetics | | 2001 | 602 | 362 | ||
| From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map | Genomics | | 2001 | 633 | 0 |
