Publications

publicationsWe aim to publish our findings in publicly available journals. Below you can find some of the papers that have been published by our team on cortical malformations.

Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. Clinical Genetics. 2016 Mar 8.

Haas MA, Ngo L, Li SS, Schleich S, Qu Z, Vanyai HK, Cullen HD, Cardona-Alberich A, Gladwyn-Ng IE, Pagnamenta AT, Taylor JC, Stewart H, Kini U, Duncan KE, Teleman AA, Keays DA, Heng JI. De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation. Cell Reports. 2016 Jun 7;15(10):2251-65

Pagnamenta, AT., Howard, MF., Wisniewski, E., Popitsch, N., Knight, SJ., Keays, DA., Quaghebeur, G., Cox, H., Cox, P., Balla, T., Taylor, JC., Kini, U. (2015). Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. Human Molecular Genetics. Jul 1;24(13):3732-41

Howard, MF., Murakami, Y., Pagnamenta, AT., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, DA., Knight, SJ., Kölsch, U., Krüger, U., Leiz, S., Maeda, Y., Mitchell, D., Mundlos, S., Phillips, JA., Robinson, PN., Kini, U., Taylor, JC., Horn, D., Kinoshita, T., Krawitz, PM. (2014). Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am J Hum Genet. 94(2):278-87.

Conti, V., Carabalona, A., Pallesi-Pocachard, E., Parrini, E., Leventer, RJ., Buhler, E., McGillivray, G., Michel, FJ., Striano, P., Mei, D., Watrin, F., Lise, S., Pagnamenta, AT., Taylor, JC., Kini, U., Clayton-Smith, J., Novara, F., Zuffardi, O., Dobyns, WB., Scheffer, IE., Robertson, SP., Berkovic, SF., Represa, A., Keays, DA., Cardoso, C., Guerrini, R. (2013). Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 136(Pt 11):3378-94

Breuss, M., Heng, JI., Poirier, K., Tian, G., Jaglin, XH., Qu, Z., Braun, A., Gstrein, T., Ngo, L., Haas, M., Bahi-Buisson, N., Moutard, ML., Passemard, S., Verloes, A., Gressens, P., Xie, Y., Robson, KJ., Rani, DS., Thangaraj, K., Clausen, T., Chelly, J., Cowan, NJ., Keays, DA. (2012). Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Reports. 2(6):1554-62

Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Akha ES, Rimmer A, Mathieson I, Knight SJ, Kini U, Taylor JC, Keays DA. Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. Journal Human Genetics. 2012 Jan;57(1):70- 2.

Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J. Mutations in Human Beta-2b Tubulin Result in Asymmetrical Polymicrogyria. Nature Genetics, 2009 May 24.

Keays DA. Neuronal migration; unraveling the molecular pathway with humans, mice and a fungus. Mammalian Genome. 2007 Jul;18(6-7):425-3.

Keays DA, Tian G, Poirier K, Huang G, Siebold S, Cleak J, Oliver P, Washbourne R, Fray M, Harvey RJ, Molnar Z, Pinon M, Dear N, Brown SD, Rawlins JP, Davies KE, Cowan NJ, Patrick Nolan P, Chelly J, Flint J. MMutations in alpha-tubulin cause hippocampal defects in mice and lissencephaly in humans. Cell. 2007 Jan 12;128(1):45-57.

Poirier K, Keays DA, Francis F, Saillour Y, Fallet-Bianco C, Loeuillet L, Pasquier L, Loget P, Manouvrier S, Ville D, Desguerre I, Goldenberg A, Drouin-Garraud V, Fryns JP, Annick Toutain A, Bienvenu T, Seburg C, Flint J, Beldjord C, Chelly J. MDe novo mutations in tubulin alpha 3 are involved in a large spectrum of neuronal migration disorders. Human Mutation. 2007 Nov;28(11):1055-64.