Robert Lyle

Summary

Affiliation: University of Oslo
Country: Norway

Publications

  1. pmc DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes
    Kristina Gervin
    Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway
    PLoS Genet 8:e1002454. 2012
  2. pmc Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Eur J Hum Genet 17:454-66. 2009
  3. pmc Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 17:1690-6. 2007
  4. doi Pet keeping and tobacco exposure influence CD14 methylation in childhood
    Monica Cheng Munthe-Kaas
    Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
    Pediatr Allergy Immunol 23:747-54. 2012
  5. pmc Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
    Paola Prandini
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    Am J Hum Genet 81:252-63. 2007
  6. pmc Extensive variation and low heritability of DNA methylation identified in a twin study
    Kristina Gervin
    Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407 Oslo, Norway
    Genome Res 21:1813-21. 2011
  7. doi Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events
    Sophie Dahoun
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Am J Med Genet A 146:2086-93. 2008
  8. pmc Limitations and possibilities of low cell number ChIP-seq
    Gregor D Gilfillan
    Department of Medical Genetics, Oslo University Hospital, Norway
    BMC Genomics 13:645. 2012
  9. ncbi Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
    Samuel Deutsch
    Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland
    Hum Mol Genet 14:3741-9. 2005
  10. ncbi Chromosome 21 and down syndrome: from genomics to pathophysiology
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 5:725-38. 2004

Detail Information

Publications25

  1. pmc DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes
    Kristina Gervin
    Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway
    PLoS Genet 8:e1002454. 2012
    ..This is the first study based on data from MZ twins discordant for psoriasis to detect epigenetic alterations that potentially contribute to development of the disease...
  2. pmc Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Eur J Hum Genet 17:454-66. 2009
    ..However, most of these regions are still broad, and more cases are needed to narrow down the phenotypic maps to a reasonable number of candidate genomic elements per phenotype...
  3. pmc Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 17:1690-6. 2007
    ..The sequencing of the "heterochromatic" regions of the human genome is likely to reveal many additional functional elements and provide important evolutionary information...
  4. doi Pet keeping and tobacco exposure influence CD14 methylation in childhood
    Monica Cheng Munthe-Kaas
    Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
    Pediatr Allergy Immunol 23:747-54. 2012
    ..Here, we aim to explore whether environmental stimuli during childhood affects CD14 methylation, thereby providing a biological mechanism through which environment may modulate genetic effect...
  5. pmc Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
    Paola Prandini
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    Am J Hum Genet 81:252-63. 2007
    ..This study provides the first extensive data set on HSA21 gene-expression variation in DS and underscores its role in modulating the outcome of gene-dosage imbalance...
  6. pmc Extensive variation and low heritability of DNA methylation identified in a twin study
    Kristina Gervin
    Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407 Oslo, Norway
    Genome Res 21:1813-21. 2011
    ..Overall, heritability estimates of DNA methylation were low. Our heritability estimates are, however, somewhat deflated due to the presence of batch effects that artificially inflate the estimates of shared environment...
  7. doi Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events
    Sophie Dahoun
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Am J Med Genet A 146:2086-93. 2008
    ....
  8. pmc Limitations and possibilities of low cell number ChIP-seq
    Gregor D Gilfillan
    Department of Medical Genetics, Oslo University Hospital, Norway
    BMC Genomics 13:645. 2012
    ..Using a ChIP-seq protocol optimised for low cell numbers (down to 100,000 cells/IP), we examined the performance of the ChIP-seq technique on a series of decreasing cell numbers...
  9. ncbi Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
    Samuel Deutsch
    Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland
    Hum Mol Genet 14:3741-9. 2005
    ..5-fold in control samples, are unlikely to be involved in DS-phenotypes present in all affected individuals...
  10. ncbi Chromosome 21 and down syndrome: from genomics to pathophysiology
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 5:725-38. 2004
    ..Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance...
  11. pmc A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
    Kaja K Selmer
    Department and Institute of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway
    Eur J Hum Genet 20:58-63. 2012
    ..Our findings describe a mild form of MPS IIIB and illustrate the diagnostic potential of targeted NGS in Mendelian disease with unknown aetiology...
  12. doi Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
    Marc Friedli
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Mamm Genome 19:272-8. 2008
    ..Interestingly, the Dac2j mutation occurs within a highly conserved element that may represent a regulatory sequence for a neighboring gene...
  13. pmc Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 14:1268-74. 2004
    ..5-fold. These data provide candidate genes that might be involved in the phenotypes of Down syndrome, and reveal a complex regulation of gene expression that is not only related to gene copy number...
  14. doi The Norwegian Twin Registry from a public health perspective: a research update
    Thomas S Nilsen
    Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway
    Twin Res Hum Genet 16:285-95. 2013
    ....
  15. ncbi CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation?
    Monica Cheng Munthe-Kaas
    Department of Pediatrics, Oslo University Hospital, Oslo, Norway
    J Allergy Clin Immunol 125:1361-8. 2010
    ..Single nucleotide polymorphisms (SNPs) in the CD14 gene have been associated with soluble CD14 (sCD14) levels, but inconsistencies between studies suggest the presence of regulatory mechanisms hitherto not well understood...
  16. doi Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
    Mari Ann Kulseth
    Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
    Eur J Med Genet 54:130-5. 2011
    ..This case demonstrates that in the absence of a readily available mRNA source, exon trapping can be a robust and practical aid in clinical practice for assessing the effect of genomic variants on pre-mRNA splicing...
  17. ncbi Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Am J Med Genet A 140:1384-95. 2006
    ..Our data suggest that SHFM3 may be caused by overexpression of BTRC and SUFU, both of which are involved in beta-catenin signalling...
  18. ncbi A dominant STIM1 mutation causes Stormorken syndrome
    Doriana Misceo
    Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway
    Hum Mutat 35:556-64. 2014
    ..Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients. We conclude that the heterozygous mutation c.910C>T causes the complex phenotype that defines this syndrome. ..
  19. pmc Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
    Catia Attanasio
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211, Geneva 4, Switzerland
    Genome Biol 9:R168. 2008
    ..However, such deeply conserved elements account for <1% of the conserved non-coding sequences in the human genome, which are predominantly mammalian...
  20. doi Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
    Hanne Sorte
    Department of Medical Genetics, Oslo University Hospital, Nydalen, Oslo, Norway
    Eur J Med Genet 55:196-202. 2012
    ..To our knowledge, the current report describes the ninth published case of ALG8-CDG, contributing to the further delineation of this rare and variable disorder...
  21. doi Early life interventions to prevent allergy in the offspring: the role of maternal immunization and postnatal mucosal allergen exposure
    Jitka S Hansen
    Department of Environmental Immunology, Norwegian Institute of Public Health, Nydalen, Oslo, Norway
    Int Arch Allergy Immunol 158:261-75. 2012
    ..Therefore, we compared the effects of two early life interventions, i.e. maternal allergen immunization and postnatal intranasal allergen exposure, as well as a combination of both treatments on allergic responses in the offspring...
  22. doi A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
    Siv Fokstuen
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Hum Mutat 29:879-85. 2008
    ..The high-throughput HCM resequencing array is the most rapid and cost-effective tool for molecular testing of HCM to date; it thus has considerable potential in diagnostic and predictive testing, and prognostic stratification...
  23. ncbi Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
    Marie Wattenhofer
    Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, Geneva, Switzerland
    Hum Mutat 25:543-9. 2005
    ..Our results indicate that the ability of CLDN14 to be recruited to these junctions is crucial for the hearing process...
  24. ncbi Human chromosome 21 gene expression atlas in the mouse
    Alexandre Reymond
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, CMU, 1, rue Michel Servet, 1211 Geneva, Switzerland
    Nature 420:582-6. 2002
    ..This high resolution expression 'atlas' of an entire human chromosome is an important step towards the understanding of gene function and of the pathogenetic mechanisms in Down's syndrome...
  25. ncbi Nineteen additional unpredicted transcripts from human chromosome 21
    Alexandre Reymond
    Division of Medical Genetics, University of Geneva Medical School, 1211 Geneva, Switzerland
    Genomics 79:824-32. 2002
    ....