| scholarly article | Q13442814 |
| P819 | ADS bibcode | 2014NatCo...5.4483. |
| P6179 | Dimensions Publication ID | 1010301985 |
| P356 | DOI | 10.1038/NCOMMS5483 |
| P932 | PMC publication ID | 4109005 |
| P698 | PubMed publication ID | 25047197 |
| P5875 | ResearchGate publication ID | 264119336 |
| P50 | author | A. Micheil Innes | Q55603472 |
| Ravi Savarirayan | Q89387389 | ||
| François P. Bernier | Q91969027 | ||
| Jacek Majewski | Q110771035 | ||
| Jillian S Parboosingh | Q114435061 | ||
| Jeremy Schwartzentruber | Q40283484 | ||
| P2093 | author name string | Edwin P Kirk | |
| Elaine H Zackai | |||
| Bernard N Chodirker | |||
| Edmond G Lemire | |||
| Ryan E Lamont | |||
| Elizabeth J Bhoj | |||
| Loydie A Jerome-Majewska | |||
| Care4Rare Canada | |||
| Julie Hoover-Fong | |||
| D Ross McLeod | |||
| Leah Fleming | |||
| Timothée Revil | |||
| Danielle C Lynch | |||
| Juliet P Taylor | |||
| P2860 | cites work | A user's guide to the encyclopedia of DNA elements (ENCODE) | Q21092716 |
| Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements | Q21267234 | ||
| Ultraconserved Elements in the Human Genome | Q22065813 | ||
| A high-resolution map of human evolutionary constraint using 29 mammals | Q22122167 | ||
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly | Q24633650 | ||
| DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources | Q24644530 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs | Q27639794 | ||
| The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
| The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
| Evolutionary growth process of highly conserved sequences in vertebrate genomes. | Q51783851 | ||
| Rib gap defects with micrognathia. The cerebro-costo-mandibular syndrome--a Pierre Robin-like syndrome with rib dysplasia | Q70447942 | ||
| Alternative isoform regulation in human tissue transcriptomes | Q27861118 | ||
| Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome | Q28265479 | ||
| An expansive human regulatory lexicon encoded in transcription factor footprints | Q28274429 | ||
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
| Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing | Q29547470 | ||
| In vivo enhancer analysis of human conserved non-coding sequences | Q29616554 | ||
| Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations | Q30451694 | ||
| Systematic identification and analysis of exonic splicing silencers. | Q33210154 | ||
| Identifying a high fraction of the human genome to be under selective constraint using GERP++. | Q33769754 | ||
| The splicing factor SRp20 modifies splicing of its own mRNA and ASF/SF2 antagonizes this regulation | Q33887326 | ||
| Genomewide analysis of mRNA processing in yeast using splicing-specific microarrays | Q34126595 | ||
| Use of minigene systems to dissect alternative splicing elements | Q34470976 | ||
| Regulation of alternative splicing by the core spliceosomal machinery | Q34588437 | ||
| Human genome ultraconserved elements are ultraselected | Q34663950 | ||
| PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. | Q34955438 | ||
| Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay | Q35677362 | ||
| Conserved non-genic sequences - an unexpected feature of mammalian genomes | Q36045183 | ||
| Regulation of multiple core spliceosomal proteins by alternative splicing-coupled nonsense-mediated mRNA decay | Q36748147 | ||
| Identification of alternative splicing regulators by RNA interference in Drosophila | Q37619393 | ||
| Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development | Q39596997 | ||
| The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. | Q42485526 | ||
| Inactivation of LAR family phosphatase genes Ptprs and Ptprf causes craniofacial malformations resembling Pierre-Robin sequence | Q44759352 | ||
| Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements | Q45217144 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | spliceosome | Q915868 |
| P304 | page(s) | 4483 | |
| P577 | publication date | 2014-07-22 | |
| P1433 | published in | Nature Communications | Q573880 |
| P1476 | title | Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome | |
| P478 | volume | 5 |
| Q38417433 | A review of craniofacial disorders caused by spliceosomal defects |
| Q60852037 | Developmental processes regulate craniofacial variation in disease and evolution |
| Q36991152 | Functional genomics analyses of RNA-binding proteins reveal the splicing regulator SNRPB as an oncogenic candidate in glioblastoma |
| Q33737782 | Genome annotation for clinical genomic diagnostics: strengths and weaknesses |
| Q38617659 | Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update |
| Q50615596 | Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. |
| Q42038690 | Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies |
| Q88869535 | Neurocristopathies: New insights 150 years after the neural crest discovery |
| Q28088384 | New insights into craniofacial malformations |
| Q92505061 | Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features |
| Q91792169 | Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A |
| Q90068749 | SNRPB promotes the tumorigenic potential of NSCLC in part by regulating RAB26 |
| Q37022749 | Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome |
| Q92116061 | Spliceosomopathies and neurocristopathies: two sides of the same coin? |
| Q96163195 | Spliceosomopathies: diseases and mechanisms |
| Q90612341 | Tau-Mediated Disruption of the Spliceosome Triggers Cryptic RNA Splicing and Neurodegeneration in Alzheimer's Disease |
| Q49393183 | Variant snRNPs: New players within the spliceosome system |
Search more.