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PreviewIssue DateTitleAuthor(s)
1997High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn SyndromeFang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D.
2006FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisitedAdes, L.; Sullivan, K.; Biggin, A.; Haan, E.; Brett, M.; Holman, K.; Dixon, J.; Robertson, S.; Holmes, A.; Rogers, J.; Bennetts, B.
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.
2012CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityVoineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D.
2003Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationKalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J.
2012New mutations and sporadic intellectual disabilityGecz, J.; Haan, E.
2005Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature reviewYu, S.; Baker, E.; Hinton, L.; Eyre, H.; Waters, W.; Higgins, S.; Sutherland, G.; Haan, E.
2005The Hunter-McAlpine syndrome results from duplication 5q35-qterHunter, A.; DuPont, B.; McLaughlin, M.; Hinton, L.; Baker, E.; Ades, L.; Haan, E.; Schwartz, C.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2014FRA2A is a CGG repeat expansion associated with silencing of AFF3Metsu, S.; Rooms, L.; Rainger, J.; Taylor, M.; Bengani, H.; Wilson, D.; Chilamakuri, C.; Morrison, H.; Vandeweyer, G.; Reyniers, E.; Douglas, E.; Thompson, G.; Haan, E.; Gecz, J.; FitzPatrick, D.; Kooy, R.; Pearson, C.