Publications of P. N. Robinson
All genres
Journal Article (67)
21.
Journal Article
155A (4), pp. 721 - 4 (2011)
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A 22.
Journal Article
5 (2), pp. 224 - 9 (2011)
Minimum Information about a Genotyping Experiment (MIGEN). Stand Genomic Sci 23.
Journal Article
12, p. 158 (2011)
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics 24.
Journal Article
12, p. 418 (2011)
Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics 25.
Journal Article
20 (14), pp. 2697 - 709 (2011)
Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 26.
Journal Article
32 (5), pp. 495 - 500 (2011)
Bioinformatics for human genetics: promises and challenges. Hum Mutat 27.
Journal Article
6 (1), p. e16250 (2011)
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS ONE 28.
Journal Article
80 (2), pp. 127 - 32 (2011)
Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 29.
Journal Article
39 (7), pp. 2492 - 502 (2011)
Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res 30.
Journal Article
27 (6), pp. 829 - 36 (2011)
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 31.
Journal Article
27 (6), pp. 829 - 36 (2011)
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 32.
Journal Article
107 (2), pp. 268 - 74 (2011)
Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol 33.
Journal Article
12, p. 441 (2011)
Exact score distribution computation for ontological similarity searches. BMC Bioinformatics 34.
Journal Article
79 (6), pp. 568 - 74 (2011)
Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. Clin Genet 35.
Journal Article
11 (12), p. 11:144 - 11:144 (2010)
Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biology 36.
Journal Article
123 (Pt 24), pp. 4340 - 4350 (2010)
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. Journal of Cell Science 37.
Journal Article
24 (2), pp. 1 - 11 (2010)
Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Research 38.
Journal Article
152A (11), pp. 2749 - 2755 (2010)
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. American Journal of Medical Genetics Part A 39.
Journal Article
106 (7), pp. 1048 - 1053 (2010)
Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. American Journal of Cardiol 40.
Journal Article
42 (10), pp. 827 - 829 (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics