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PreviewIssue DateTitleAuthor(s)
2012Reproductive technologies: the alchemy of lifeDavies, M.; Haan, E.
2014Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosisDelatycki, M.; Burke, J.; Christie, L.; Collins, F.; Gabbett, M.; George, P.; Haan, E.; Ioannou, L.; Martin, N.; McKenzie, F.; O'Leary, P.; Scoble-Williams, N.; Turner, G.; Massie, J.
2015Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsyMcMichael, G.; Bainbridge, M.; Haan, E.; Corbett, M.; Gardner, A.; Thompson, S.; Van Bon, B.; Van Eyk, C.; Broadbent, J.; Reynolds, C.; O'Callaghan, M.; Nguyen, L.; Adelson, D.; Russo, R.; Jhangiani, S.; Doddapaneni, H.; Muzny, D.; Gibbs, R.; Gecz, J.; MacLennan, A.
2013RPGR mutations might cause reduced orientation of respiratory ciliaBukowy-Blerytto, Z.; Zletkiewicz, E.; Loges, N.; Wittmer, M.; Geremek, M.; Olbrich, H.; Filegauf, M.; Voelkel, K.; Rutkiewicz, E.; Rutland, J.; Morgan, L.; Pogorzelski, A.; Martin, A.; Haan, E.; Berger, W.; Omran, H.; Witt, M.
2013Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGHNicholl, J.; Waters, W.; Suwalski, S.; Brown, S.; Hull, Y.; Harbord, M.; Entwistle, J.; Thompson, S.; Clark, D.; Pridmore, C.; Haan, E.; Barnett, C.; McGregor, L.; Liebelt, J.; Thompson, E.; Friend, K.; Bain, S.; Yu, S.; Mulley, J.
2015Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disabilityGrozeva, D.; Carss, K.; Spasic-Boskovic, O.; Tejada, M.; Gecz, J.; Shaw, M.; Corbett, M.; Haan, E.; Thompson, E.; Friend, K.; Hussain, Z.; Hackett, A.; Field, M.; Renieri, A.; Stevenson, R.; Schwartz, C.; Floyd, J.; Bentham, J.; Cosgrove, C.; Keavney, B.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2013Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patientsRoscioli, T.; Haan, E.; Thompson, E.; David, D.; Anderson, P.
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.
2011Lung disease associated with periventricular nodular heterotopia and an FLNA mutationMasurel-Paulet, A.; Haan, E.; Thompson, E.; Goizet, C.; Thauvin-Robinet, C.; Tai, A.; Kennedy, J.; Smith, G.; Khong, T.; Sole, G.; Guerineau, E.; Coupry, I.; Huet, F.; Robertson, S.; Faivre, L.

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