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PreviewIssue DateTitleAuthor(s)
2017NAD deficiency, congenital malformations, and niacin supplementationShi, H.; Enriquez, A.; Rapadas, M.; Martin, E.; Wang, R.; Moreau, J.; Lim, C.; Szot, J.; Ip, E.; Hughes, J.; Sugimoto, K.; Humphreys, D.; McInerney-Leo, A.; Leo, P.; Maghzal, G.; Halliday, J.; Smith, J.; Colley, A.; Mark, P.; Collins, F.; et al.
2020The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in miceBagheri-Fam, S.; Chen, H.; Wilson, S.; Ayers, K.; Hughes, J.; Sloan-Bena, F.; Calvel, P.; Robevska, G.; Puisac, B.; Kusz-Zamelczyk, K.; Gimelli, S.; Spik, A.; Jaruzelska, J.; Warenik-Szymankiewicz, A.; Faradz, S.; Nef, S.; Pié, J.; Thomas, P.; Sinclair, A.; Wilhelm, D.; Yenugu, S.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; 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.
2012Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic miceLee, K.; Tan, J.; Morris, M.; Rizzoti, K.; Hughes, J.; Cheah, P.; Felquer, F.; Liu, X.; Piltz, S.; Lovell-Badge, R.; Thomas, P.; Schmidt, J.V.

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