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PreviewIssue DateTitleAuthor(s)
2013Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeAoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; et al.
2013Sensory neuro-immune interactions differ between Irritable Bowel Syndrome subtypesHughes, P.; Harrington, A.; Castro Kraftchenko, J.; Liebregts, T.; Adam, B.; Grasby, D.; Isaacs, N.; Maldeniya, M.; Martin, C.; Persson, J.; Andrews, J.; Holtmann, G.; Blackshaw, L.; Brierley, S.
2014Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulationLee, K.; Mattiske, T.; Kitamura, K.; Gecz, J.; Shoubridge, C.
2015Identification of markers that functionally define a quiescent multiple myeloma cell sub-population surviving bortezomib treatmentAdomako, A.; Calvo, V.; Biran, N.; Osman, K.; Chari, A.; Paton, J.; Paton, A.; Moore, K.; Schewe, D.; Aguirre-Ghiso, J.
2012Relaxin increases human endothelial progenitor cell NO and migration and vasculogenesis in miceSegal, M.S.; Sautina, L.; Li, S.; Diao, Y.; Agoulnik, A.I.; Kielczewski, J.; McGuane, J.T.; Grant, M.B.; Conrad, K.P.
2012A possible murine model for investigation of pathogenesis of Sudden Infant Death SyndromeBettelheim, K.; Luke, R.; Johnston, N.; Pearce, J.; Goldwater, P.
2010Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genesDimasi, D.; Chen, J.; Hewitt, A.; Klebe, S.; Davey, R.; Stirling, J.; Thompson, E.; Forbes, R.; Tan, T.; Savarirayan, R.; Mackey, D.; Healey, P.; Mitchell, P.; Burdon, K.; Craig, J.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceTischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.

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