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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
1995An integrated physical map of human chromosome 16Doggett, N.; Goodwin, L.; Tesmer, J.; Meincke, L.; Bruce, D.; Clark, L.; Altherr, M.; Ford, A.; Chi, H.C.; Marrone, B.; Longmire, J.; Lane, S.; Whitmore, S.; Lowenstein, N.; Sutherland, G.; Mundt, M.; Knill, E.; Bruno, W.; Macken, C.; Torney, D.; et al.
2007Epidemiological comparisons of problems and positive qualities reported by adolescents in 24 countriesRescorla, L.; Achenbach, T.; Ivanova, M.; Dumenci, L.; Almqvist, F.; Bilenberg, N.; Bird, H.; Broberg, A.; Dobrean, A.; Dopfner, M.; Erol, N.; Forns, M.; Hannesdottir, H.; Kanbayashi, Y.; Lambert, M.; Leung, P.; Minaei, A.; Mulatu, M.; Novik, T.; Oh, K.; et al.
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2018The impact of the 13 valent conjugate pneumococcal vaccine on pneumococcal serotypes causing childhood empyema in AustraliaStrachan, R.; Beggs, S.; Fearon, D.; Gilbert, G.; Homaira, N.; Lambert, S.; Marshall, H.; Martin, A.; McCallum, G.; McCullagh, A.; McDonald, T.; Mcintyre, P.; Oftadeh, S.; Ranganathan, S.; Suresh, S.; Teoh, L.; Twaij, A.; Wainwright, C.; Wong, M.; Snelling, T.; et al.; The Australia & New Zealand Society of Respiratory Science and The Thoracic Society of Australia and New Zealand (ANZSRS/TSANZ) Annual Scientific Meeting 2018 (23 Mar 2018 - 27 Mar 2018 : Adelaide, AUSTRALIA)
2014The inherited cancer connect (iccon) mutation-carrier databaseJames, P.A.; Petelin, L.; Campbell, I.; Dawkins, H.; Fox, S.; Hiller, J.; Kirk, J.; Lindeman, G.; Macrae, F.; Mascarenhas, L.; McGaughran, J.; Meiser, B.; Morrow, A.; Nichols, C.; Pachter, N.; Saunders, C.; Scott, C.; Poplawski, N.; Thrupp, L.; Trainer, A.; et al.; COSA's 41st Annual Scientific Meeting. Joining Forces - Accelerating Progress (2 Dec 2014 - 4 Dec 2014 : Melbourne, Vic.)
2017Gut Virome Dynamics during Pregnancy in Mothers with Type 1 DiabetesKim, K.W.; Allen, D.W.; Briese, T.; Pang, C.N.; Jain, K.; Horton, J.L.; Isaacs, S.R.; Wilkins, M.R.; Couper, J.; Penno, M.A.S.; Harrison, L.C.; Morahan, G.; Harris, M.; Cotterill, A.M.; Morbey, C.; Barry, S.C.; Haynes, A.; Davis, E.; Colman, P.; Giles, L.; et al.; 77th Scientific Sessions of the American Diabetes Association (9 Jun 2017 - 13 Jun 2017 : San Diego, CA)
2020Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disordersAref-Eshghi, E.; Kerkhof, J.; Pedro, V.; Barat-Houari, M.; Ruiz-Pallares, N.; Alders, M.; Mannens, M.; Henneman, P.; Hennekam, R.C.; Ciolfi, A.; Pizzi, S.; Tartaglia, M.; Campeau, P.M.; Rousseau, J.; Levy, M.A.; Brick, L.; Kozenko, M.; Balci, T.B.; Siu, V.M.; Stuart, A.; et al.; 53rd European Society of Human Genetics (ESHG) Conference (6 Jun 2020 - 9 Jun 2020 : Virtual Online)
2019Preferred learning modalities and practice for critical skills: a global survey of paediatric emergency medicine cliniciansCraig, S.S.; Auerbach, M.; Cheek, J.A.; Babl, F.E.; Oakley, E.; Nguyen, L.; Rao, A.; Dalton, S.; Lyttle, M.D.; Mintegi, S.; Nagler, J.; Mistry, R.D.; Dixon, A.; Rino, P.; Kohn-Loncarica, G.; Dalziel, S.R.; Tzimenatos, L.; Mistry, R.; Brown, K.; Powell, E.; et al.

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