PubRank

Robert Lyle

Author PubWeight™ 74.16‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome-wide associations of gene expression variation in humans. PLoS Genet 2005 17.27
2 Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature 2002 5.38
3 Human chromosome 21 gene expression atlas in the mouse. Nature 2002 4.36
4 Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes. Proc Natl Acad Sci U S A 2003 3.73
5 Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004 3.58
6 Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 2006 3.18
7 Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proc Natl Acad Sci U S A 2005 2.56
8 Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet 2012 2.15
9 Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. Hum Mol Genet 2005 1.96
10 Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet 2007 1.86
11 Nineteen additional unpredicted transcripts from human chromosome 21. Genomics 2002 1.80
12 DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet 2008 1.45
13 DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes. PLoS Genet 2012 1.35
14 A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 2003 1.32
15 miR-511-3p modulates genetic programs of tumor-associated macrophages. Cell Rep 2012 1.29
16 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Hum Mutat 2008 1.21
17 The TPTE gene family: cellular expression, subcellular localization and alternative splicing. Gene 2003 1.16
18 Limitations and possibilities of low cell number ChIP-seq. BMC Genomics 2012 1.09
19 Extensive variation and low heritability of DNA methylation identified in a twin study. Genome Res 2011 1.07
20 Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Hum Mutat 2005 1.03
21 Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events. Am J Med Genet A 2008 0.96
22 Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres. J Neurosci Res 2009 0.94
23 Transcription profiling during the cell cycle shows that a subset of Polycomb-targeted genes is upregulated during DNA replication. Nucleic Acids Res 2013 0.93
24 Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells. Genome Biol 2008 0.92
25 A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 2014 0.90
26 Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Am J Med Genet A 2006 0.87
27 Binding of human milk to pathogen receptor DC-SIGN varies with bile salt-stimulated lipase (BSSL) gene polymorphism. PLoS One 2011 0.86
28 CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation? J Allergy Clin Immunol 2010 0.85
29 Methylation of bone SOST, its mRNA, and serum sclerostin levels correlate strongly with fracture risk in postmenopausal women. J Bone Miner Res 2015 0.84
30 The Norwegian Twin Registry from a public health perspective: a research update. Twin Res Hum Genet 2012 0.84
31 A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. Eur J Hum Genet 2011 0.83
32 Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis. Eur J Hum Genet 2012 0.82
33 Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mamm Genome 2008 0.81
34 Chromosome 21: a small land of fascinating disorders with unknown pathophysiology. Int J Dev Biol 2002 0.81
35 Pet keeping and tobacco exposure influence CD14 methylation in childhood. Pediatr Allergy Immunol 2012 0.79
36 Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. Eur J Med Genet 2012 0.78
37 Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Invest Ophthalmol Vis Sci 2011 0.78
38 Early life interventions to prevent allergy in the offspring: the role of maternal immunization and postnatal mucosal allergen exposure. Int Arch Allergy Immunol 2012 0.77
39 Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly. Eur J Med Genet 2010 0.76
40 Epithelial splicing regulator protein 1 and alternative splicing in somatotroph adenomas. Endocrinology 2013 0.75
41 OP008. Different dysregulation of placental mirnas in early- and late-onset preeclampsia. Pregnancy Hypertens 2013 0.75