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Scientific highlights


  1. Church et al. (2009) A Mouse Model for the Metabolic Effects of the Human Fat Mass and Obesity Associated FTO Gene. PLoS Genet. 5: e1000599.


  2. Bogani et al. (2009) Loss of Mitogen-activated Protein Kinase Kinase Kinase 4 (MAP3K4) Reveals a Requirement for MAPK Signalling in Mouse Sex Determination. PLoS Biol. 7: e1000196.


  3. Yates et al. (2010) The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis. Hum. Mol. Genet. 19: 2251-2267.


  4. Hugill et al. (2010) A mutation in Kcnj11 causing human hyperinsulinism (Y12X) results in a glucose intolerant phenotype in the mouse.Diabetologia 53:2352-6.


  5. Rose et al. (2010) Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease. Hum Mol Genet. 19: 2144-53.


  6. Winslow et al. (2010) Alpha-synuclein impairs macroautophagy: implications for Parkinson’s disease. J Cell Biol. 190: 1023-37.


  7. Church et al. (2010) Overexpression of Fto leads to increased food intake and results in obesity.Nature Genetics 42: 1086-92.


  8. Yates et al. (2010)​ The planar cell polarity gene Vangl2 is required for mammalian kidney branching morphogenesis and glomerular maturation. Hum. Mol. Genet. 9: 4663-76.


  9. Pearlman et al. (2010) Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination. Am. J. Hum. Genet 87: 898-904.


  10. Field et al. (2011) Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2. Development 138: 1131-42.


  11. Williamson et al. (2011) ​Uncoupling Antisense-Mediated Silencing and DNA Methylation in the Imprinted Gnas Cluster. PLoS Genetics 7: e1001347.


  12. Nicholson et al. (2011) A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. PLoS Genetics 7: e1002270.


  13. Nicholson et al. (2011) Human metabolic profiles are stably controlled by genetic and environmental variation. Mol Syst Biol. 7: 525.


  14. Cheeseman et al. (2011) HIF-VEGF Pathways are Critical for Chronic Otitis Media in Junbo and Jeff mouse mutants. PLoS Genetics 7: e1002336.


  15. Corrochano et al. (2011) Alpha-synuclein levels modulate Huntington’s disease in mice. Hum. Mol. Genet. 21: 485-494.


  16. Smith et al. (2012) KATNAL1 Regulation of Sertoli Cell Microtubule Dynamics is Essential for Spermiogenesis and Male Fertility. PLoS Genetics 8: e1002697.


  17. Warr et al. (2012) Gadd45γ and Map3k4 interactions regulate mouse testis determination via p38 MAPK-mediated control of Sry expression. Developmental Cell 23: 1020-1031.


  18. Xu et al. (2012) Evi1 acts as an inducible negative-feedback regulator of NF-κB by inhibiting p65 acetylation. J. Immunol. 188: 6371-6378.


  19. McMurray et al. (2012)​ Adult onset global loss of the Fto gene alters body composition and metabolism in the mousePLoS Genetics 9:e1003166.


  20. Simon et al. (2013)​ A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. Genome Biology 14: R82.


  21. Tateossian et al. (2013) Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory disease. Hum. Mol. Genet. 22: 2553-2565.


  22. Anand et al. (2013) Distinct and separable roles for endogenous CRY1 and CRY2 within the circadian molecular clockwork of the suprachiasmatic nucleus, as revealed by the Fbxl3Afh mutation. J Neurosci. 33: 7145-7153.


  23. Anstee et al. (2013) Mutations in the GABRB1 gene promote alcohol consumption through increased tonic inhibition. Nature Communications 4: 2816.


  24. Renna et al. (2013) IGF-1 receptor antagonism inhibits autophagy. Hum. Mol. Genet. 22: 4528-44.


  25. Wills et al. (2013) ​Single-cell gene expression analysis reveals genetic associations masked in whole-tissue experimentsNature Biotechnology 31: 748–752.


  26. Warr et al. (2014) Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice. Hum. Mol. Genet. 23: 3035-3044.


  27. Tucci et al. (2014) Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin. Invest.124: 1468-82.


  28. Goggolidou et al. (2014) Atmin mediates kidney morphogenesis by modulating Wnt signaling.Hum. Mol. Genet. [In press].