Publications of P. N. Robinson
All genres
Journal Article (67)
41.
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 42.
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 43.
Journal Article
38 (11), pp. 3523 - 3532 (2010)
GOing Bayesian: model-based gene set analysis of genome-scale data. Nucleic Acids Research 44.
Journal Article
106 (1), pp. 1836 - 1841 (2010)
Frequency of sleep apnea in adults with the Marfan syndrome. American Journal of Cardiology 45.
Journal Article
77 (6), pp. 525 - 534 (2010)
The human phenotype ontology. Clinical Genetics 46.
Journal Article
23 (7), pp. 716 - 724 (2010)
Augmentation index and the evolution of aortic disease in marfan-like syndromes. American Journal of Hypertension 47.
Journal Article
26 (6), pp. 722 - 729 (2010)
Microindel detection in short-read sequence data. Bioinformatics 48.
Journal Article
39 (1), pp. 17 - 32 (2010)
Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? European Journal for Vascular Medicine 49.
Journal Article
26 (6), pp. 722 - 729 (2010)
Microindel detection in short-read sequence data. Bioinformatics 50.
Journal Article
85 (4), pp. 457 - 464 (2009)
Clinical Diagnostics with Semantic Similarity Searches in Ontologies. The American Journal of Human Genetics 51.
Journal Article
94 (5), pp. 308 - 316 (2009)
Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts. Genomics 52.
Journal Article
24 (7), pp. 1247 - 1262 (2009)
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 53.
Journal Article
5, p. e1000487 - e1000487 (2009)
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 54.
Journal Article
83 (5), pp. 610 - 615 (2008)
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease. The American Journal of Human Genetics 55.
Journal Article
40 (4), pp. 638 - 650 (2008)
A short ultraconserved sequence drives transcription from an alternate FBN1 promoter. The International Journal of Biochemistry & Cell Biology 56.
Journal Article
4 (1), pp. 81 - 95 (2008)
The generalised k-Truncated Suffix Tree for time- and space-efficient searches in multiple DNA or protein sequences. International Journal of Bioinformatics Research and Applications: Ijbra 57.
Journal Article
23 (22), pp. 3024 - 3031 (2007)
Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics 58.
Journal Article
7 (1 - 2), pp. 102 - 112 (2007)
Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model. Gene Expression Patterns: A Section of Brain Research Devoted to Patterns of Expression of Genes during the Development, Maturity and Aging of the Central Nervous System 59.
Journal Article
17, pp. 1855 - 1862 (2006)
Induction of Macrophage Chemotaxis by Aortic Extracts of the mgR Marfan Mouse Model and a GxxPG-Containing Fibrillin-1 Fragment. Circulation 60.
Journal Article
79 (2), pp. 303 - 312 (2006)
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit. American Journal of Human Genetics (Chicago, IL)