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2018

  1. Chessum et al. (2018) Helios is a key transcriptional regulator of outer hair cell maturation. Nature, 2018. 
  2. Rozmasn et al. (2018) Identification of genetic elements in metabolism by high-throughput mouse phenotypingNat Commun, 2018, 9, 288
  3. Brown et al. (2018) High-throughput mouse phenomics for characterizing mammalian gene functionNat Rev Genet, 2018. 19, 357–370
  4. Small et al. (2018) Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body compositionNat Genet 2018.  50, 572–580 

2017

  1. Banks et al. (2017) A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomaliesMol Psychiatry, 2017
  2. Bowl et al. (2017) A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunctionNat Commun, 2017, 8, 886
  3. Crompton  et al. (2017) A mutation in Nischarin causes otitis media via LIMK1 and NF-kappaB pathways. PLoS Genet, 2017, 13, e100696
  4. Giese et al. (2017) CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cellsNat Commun, 2017, 8, 43
  5. Greenfield et al. (2017) Assisted reproductive technologies to prevent human mitochondrial disease transmissionNat Biotechnol, 2017, 35, 1059-1068
  6. Karp et al. (2017) Prevalence of sexual dimorphism in mammalian phenotypic traitsNat Commun, 2017, 8, 15475
  7. Meehan et al. (2017) Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping ConsortiumNat Genet, 2017, 49, 1231-1238
  8. Michel et al. (2017) CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survivalEMBO Mol Med, 2017, 9, 1711-1731

2016

  1. Bains et al. (2016) Analysis of Individual Mouse Activity in Group Housed Animals of Different Inbred Strains using a Novel Automated Home Cage Analysis System. Front Behav Neurosci, 2016, 10, 106
  2. Carrott et al. (2016) Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss. J Neurosci, 2016, 36, 222-34
  3. Dickinson et al. (2016) High-throughput discovery of novel developmental phenotypes. Nature, 2016, 537, 508-514
  4. Grimes et al. (2016) Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination. PLoS Genet, 2016, 12, e1006070
  5. Mianne et al. (2016) Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair. Genome Med, 2016, 8, 16
  6. Militi et al. (2016) Early doors (Edo) mutant mouse reveals the importance of period 2 (PER2) PAS domain structure for circadian pacemaking. Proc Natl Acad Sci U S A, 2016, 113, 2756-61
  7. Nicod et al. (2016) Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing. Nat Genet, 2016,  48,  912–918 
  8. Potter et al. (2016) Novel gene function revealed by mouse mutagenesis screens for models of age-related disease. Nat Commun, 2016, 7, 12444

2015

  1. G. Yaikhom et al. (2015) Comparative visualization of genotype-phenotype relationships. Nat Methods, 2015, 12, 698-9
  2. Karp et al. (2015) Applying the ARRIVE Guidelines to an In Vivo Database. PLoS Biol, 2015, 13, e1002151
  3. Parsons et al. (2015) The Regulatory Factor ZFHX3 Modifies Circadian Function in SCN via an AT Motif-Driven Axis. Cell, 2015, 162, 607-21
  4. de Angelis et al. (2015) Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics. Nature Genetics,
    2015, 47, 969-78

2009-2014

  1. Church et al. (2009) A Mouse Model for the Metabolic Effects of the Human Fat Mass and Obesity Associated FTO GenePLoS 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 DeterminationPLoS Biol. 7: e1000196.
  3. Yates et al. (2010) The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesisHum. 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 diseaseHum Mol Genet. 19: 2144-53.
  6. Winslow et al. (2010) Alpha-synuclein impairs macroautophagy: implications for Parkinson’s diseaseJ 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 maturationHum. 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 DeterminationAm. J. Hum. Genet 87: 898-904.
  10. Field et al. (2011) Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2Development 138: 1131-42.
  11. Williamson et al. (2011) ​Uncoupling Antisense-Mediated Silencing and DNA Methylation in the Imprinted Gnas ClusterPLoS Genetics 7: e1001347.
  12. Nicholson et al. (2011) A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selectionPLoS Genetics 7: e1002270.
  13. Nicholson et al. (2011) Human metabolic profiles are stably controlled by genetic and environmental variationMol Syst Biol. 7: 525.
  14. Cheeseman et al. (2011) HIF-VEGF Pathways are Critical for Chronic Otitis Media in Junbo and Jeff mouse mutantsPLoS Genetics7: e1002336.
  15. Corrochano et al. (2011) Alpha-synuclein levels modulate Huntington’s disease in miceHum. Mol. Genet. 21: 485-494.
  16. Smith et al. (2012) KATNAL1 Regulation of Sertoli Cell Microtubule Dynamics is Essential for Spermiogenesis and Male FertilityPLoS Genetics 8: e1002697.
  17. Warr et al. (2012) Gadd45γ and Map3k4 interactions regulate mouse testis determination via p38 MAPK-mediated control of Sry expressionDevelopmental Cell 23: 1020-1031.
  18. Xu et al. (2012) Evi1 acts as an inducible negative-feedback regulator of NF-κB by inhibiting p65 acetylationJ. 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 strainsGenome Biology14: R82.
  21. Tateossian et al. (2013) Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory diseaseHum. Mol. Genet22: 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 mutationJ Neurosci. 33: 7145-7153.
  23. Anstee et al. (2013) Mutations in the GABRB1 gene promote alcohol consumption through increased tonic inhibitionNature Communications 4: 2816.
  24. Renna et al. (2013) IGF-1 receptor antagonism inhibits autophagyHum. 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 miceHum. Mol. Genet. 23: 3035-3044.
  27. Tucci et al. (2014) Dominant β-catenin mutations cause intellectual disability with recognizable syndromic featuresJ Clin. Invest.124: 1468-82.
  28. Goggolidou et al. (2014) Atmin mediates kidney morphogenesis by modulating Wnt signaling.Hum. Mol. Genet. [In press].