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PreviewIssue DateTitleAuthor(s)
2017Dominant protection from HLA-linked autoimmunity by antigen-specific regulatory T cellsOoi, J.; Petersen, J.; Tan, Y.; Huynh, M.; Willett, Z.; Ramarathinam, S.; Eggenhuizen, P.; Loh, K.; Watson, K.; Gan, P.; Alikhan, M.; Dudek, N.; Handel, A.; Hudson, B.; Fugger, L.; Power, D.; Holt, S.; Coates, P.; Gregersen, J.; Purcell, A.; et al.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
2011Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKhan, K.; Rudkin, A.; Parry, D.; Burdon, K.; McKibbin, M.; Logan, C.; Abdelhamed, Z.; Muecke, J.; Fernandez-Fuentes, N.; Laurie, K.; Shires, M.; Fogarty, R.; Carr, I.; Poulter, J.; Morgan, J.; Mohamed, M.; Jafri, H.; Raashid, Y.; Meng, N.; Piseth, H.; et al.
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.
2016Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemiaGu, Z.; Churchman, M.; Roberts, K.; Li, Y.; Liu, Y.; Harvey, R.; McCastlain, K.; Reshmi, S.; Payne-Turner, D.; Iacobucci, I.; Shao, Y.; Chen, I.; Valentine, M.; Pei, D.; Mungall, K.; Mungall, A.; Ma, Y.; Moore, R.; Marra, M.; Stonerock, E.; et al.
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; et al.
2016Arrested hematopoiesis and vascular relaxation defects in mice with a mutation in DhfrThoms, J.A.I.; Knezevic, K.; Liu, J.J.; Glaros, E.N.; Thai, T.; Qiao, Q.; Campbell, H.; Packham, D.; Huang, Y.; Papathanasiou, P.; Tunningley, R.; Whittle, B.; Yeung, A.W.S.; Chandrakanthan, V.; Hesson, L.; Chen, V.; Wong, J.W.H.; Purton, L.E.; Ward, R.L.; Thomas, S.R.; et al.

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