Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IMJ, Maher ER, Wilkie AOM, Kreiborg S, Thesleff I (2011) Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption and Supernumerary Teeth. Am J Hum Genet July 7. [Epub ahead of print]
MorganNV, GoddardS, CardnoTS, McDonald D, RahmanF, BargeD, CiupekA, Straatman-IwanowskaA,PashaS, GuckianM, AndersonG, HuissoonA, CantA, TateWP, HambletonS, MaherER (2011) Mutation in the TCRa subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRab+ T cells. J Clin Invest 121(2):695-702
Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL (2010) Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 87(6):873-81
Kurian MA, Meyer E, Vassallo G, Morgan NV, Prakash N, Pasha S, Hai NA, Shuib S, Rahman F, Wassmer E, Cross JH, O'Callaghan FJ, Osborne JP, Scheffer IE, Gissen P, Maher ER. (2010) Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain 133(10):2964-70
Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A , Bessières B, Déchelotte P , Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C , Cox P , Williams D, Maher ER (2010). Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome). Am J Hum Genet 86:471-8
Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER (2010). Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhoea in Infancy). Gastroenterology 138 (7):2388-98
Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, Keenan S, Pasha S, Rahman F, Gentle D,Vreeswijk MPG, Devilee P, Knowles MA, Ceylaner S, Trembath RC, Dalence C, Kismet E, Koseoglu V, Rossbach H-C, Gissen P, Tannanhill D, Maher ER (2010). Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial Histiocytosis syndrome (Faisalabad histiocytosis) and Familial Rosai-Dorfman disease. PLoS Genetics 6(2):e1000833
Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER (2009). Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. Journal of Clinical Investigation 119:1595-603