PubRank

Peter N Robinson

Author PubWeight™ 117.98‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Walking the interactome for prioritization of candidate disease genes. Am J Hum Genet 2008 7.03
2 The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res 2013 5.66
3 Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration. Bioinformatics 2008 4.74
4 Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics 2007 4.32
5 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010 3.60
6 Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet 2009 3.01
7 Microindel detection in short-read sequence data. Bioinformatics 2010 2.73
8 GOing Bayesian: model-based gene set analysis of genome-scale data. Nucleic Acids Res 2010 2.46
9 Entity/quality-based logical definitions for the human skeletal phenome using PATO. Conf Proc IEEE Eng Med Biol Soc 2009 2.20
10 The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences. Int J Bioinform Res Appl 2008 1.88
11 Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet 2006 1.84
12 Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J 2010 1.68
13 Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 2009 1.67
14 Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet 2012 1.65
15 Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome. Clin Cardiol 2007 1.63
16 A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood 2013 1.61
17 Augmentation index relates to progression of aortic disease in adults with Marfan syndrome. Am J Hypertens 2009 1.60
18 MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS One 2011 1.41
19 MouseFinder: Candidate disease genes from mouse phenotype data. Hum Mutat 2012 1.41
20 Marfan syndrome: an update of genetics, medical and surgical management. Heart 2007 1.41
21 Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med 2013 1.39
22 Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech 2012 1.39
23 Ontological phenotype standards for neurogenetics. Hum Mutat 2012 1.35
24 A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A 2006 1.34
25 RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med 2014 1.30
26 A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 2004 1.29
27 CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet 2009 1.27
28 Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics 2011 1.24
29 Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation 2006 1.20
30 The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res 2011 1.18
31 PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet 2013 1.17
32 Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J Biol Chem 2012 1.16
33 TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat 2002 1.13
34 Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics 2011 1.13
35 RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Hum Genet 2004 1.12
36 Model-based gene set analysis for Bioconductor. Bioinformatics 2011 1.11
37 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A 2010 1.08
38 Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biol 2014 1.07
39 The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A 2008 1.06
40 Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. PLoS One 2013 1.05
41 Bayesian ontology querying for accurate and noise-tolerant semantic searches. Bioinformatics 2012 1.05
42 Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 2011 1.04
43 Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). Am J Med Genet A 2012 1.02
44 Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur J Hum Genet 2013 1.00
45 Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Hum Mutat 2006 1.00
46 miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules. Int J Biochem Cell Biol 2012 0.99
47 A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. Mol Vis 2007 0.97
48 Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep. BMC Genomics 2006 0.96
49 A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. J Mol Cell Cardiol 2006 0.96
50 Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype. Hum Mutat 2015 0.95
51 Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res 2010 0.95
52 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 2011 0.95
53 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet 2012 0.94
54 Diagnosis and management of Marfan syndrome. Future Cardiol 2008 0.93
55 Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am J Hum Genet 2012 0.92
56 Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 2011 0.92
57 HotSwap for bioinformatics: a STRAP tutorial. BMC Bioinformatics 2006 0.92
58 Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. Turk J Pediatr 2012 0.92
59 A short ultraconserved sequence drives transcription from an alternate FBN1 promoter. Int J Biochem Cell Biol 2007 0.91
60 Jannovar: a java library for exome annotation. Hum Mutat 2014 0.90
61 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. J Cell Sci 2010 0.89
62 Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinformatics 2014 0.88
63 Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. PLoS One 2011 0.87
64 Bioinformatics for human genetics: promises and challenges. Hum Mutat 2011 0.87
65 A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family. Exp Eye Res 2012 0.86
66 Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations. Genome Res 2013 0.86
67 Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis. BMC Med Inform Decis Mak 2012 0.86
68 Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. J Bone Miner Res 2009 0.86
69 Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes. Clin Cardiol 2014 0.85
70 MiR-497∼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling. J Bone Miner Res 2015 0.84
71 The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta. J Vasc Surg 2013 0.84
72 Exact score distribution computation for ontological similarity searches. BMC Bioinformatics 2011 0.84
73 First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. Am J Med Genet A 2014 0.83
74 Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Hum Mutat 2013 0.82
75 Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts. Genomics 2009 0.81
76 Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease. Int J Cardiol 2011 0.81
77 Frequency of sleep apnea in adults with the Marfan syndrome. Am J Cardiol 2010 0.81
78 Augmentation index and the evolution of aortic disease in marfan-like syndromes. Am J Hypertens 2010 0.81
79 Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. Hum Mol Genet 2012 0.80
80 Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease. Int J Cardiol 2011 0.79
81 Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol 2010 0.79
82 Regulation of fibrillin-1 gene expression by Sp1. Gene 2013 0.78
83 Binary state pattern clustering: a digital paradigm for class and biomarker discovery in gene microarray studies of cancer. J Comput Biol 2006 0.77
84 The digital revolution in phenotyping. Brief Bioinform 2015 0.77
85 FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression. Int J Cardiol 2012 0.77
86 Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol 2011 0.77
87 Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 2011 0.77
88 Minimum Information about a Genotyping Experiment (MIGEN). Stand Genomic Sci 2011 0.76
89 Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. Birth Defects Res A Clin Mol Teratol 2014 0.76
90 Calcium-dependent self-association of the C-type lectin domain of versican. Int J Biochem Cell Biol 2005 0.76
91 Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet 2015 0.75
92 Summarizing phenotype evolution patterns from report cases. J Med Syst 2012 0.75
93 KG-COVID-19: a framework to produce customized knowledge graphs for COVID-19 response. bioRxiv 2020 0.75
94 Integrating the human phenotype ontology into HeTOP terminology-ontology server. Stud Health Technol Inform 2013 0.75
95 Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes. Mol Cell Biochem 2014 0.75