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Page 1
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
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. Conti V, et al. Among authors: robertson sp. Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20. Brain. 2013. PMID: 24056535
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Reinstein E, Frentz S, Morgan T, García-Miñaúr S, Leventer RJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Scott R, Thompson EM, Robertson T, Coppin B, Siegel R, Bret Zurita M, Rodríguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP. Reinstein E, et al. Among authors: robertson sp, robertson t. Eur J Hum Genet. 2013 May;21(5):494-502. doi: 10.1038/ejhg.2012.209. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032111 Free PMC article.
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP. Jenkins ZA, et al. Among authors: robertson sp. Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29024177
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project. Heinzen EL, et al. Among authors: robertson sp. PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May. PLoS Genet. 2018. PMID: 29738522 Free PMC article.
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP. O'Neill AC, et al. Among authors: robertson sp. Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029. Cell Rep. 2018. PMID: 30517861 Free article.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: robertson sp. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Pham DH, Pitman MR, Kumar R, Jolly LA, Schulz R, Gardner AE, de Nys R, Heron SE, Corbett MA, Kothur K, Gill D, Rajagopalan S, Kolc KL, Halliday BJ, Robertson SP, Regan BM, Kirsch HE, Berkovic SF, Scheffer IE, Pitson SM, Petrovski S, Gecz J. Pham DH, et al. Among authors: robertson sp. Hum Mutat. 2021 Aug;42(8):1030-1041. doi: 10.1002/humu.24237. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34082468
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
Kyrousi C, O'Neill AC, Brazovskaja A, He Z, Kielkowski P, Coquand L, Di Giaimo R, D' Andrea P, Belka A, Forero Echeverry A, Mei D, Lenge M, Cruceanu C, Buchsbaum IY, Khattak S, Fabien G, Binder E, Elmslie F, Guerrini R, Baffet AD, Sieber SA, Treutlein B, Robertson SP, Cappello S. Kyrousi C, et al. Among authors: robertson sp. Nat Commun. 2021 Nov 2;12(1):6298. doi: 10.1038/s41467-021-26447-w. Nat Commun. 2021. PMID: 34728600 Free PMC article.
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.
O'Neill AC, Uzbas F, Antognolli G, Merino F, Draganova K, Jäck A, Zhang S, Pedini G, Schessner JP, Cramer K, Schepers A, Metzger F, Esgleas M, Smialowski P, Guerrini R, Falk S, Feederle R, Freytag S, Wang Z, Bahlo M, Jungmann R, Bagni C, Borner GHH, Robertson SP, Hauck SM, Götz M. O'Neill AC, et al. Among authors: robertson sp. Science. 2022 Jun 17;376(6599):eabf9088. doi: 10.1126/science.abf9088. Epub 2022 Jun 17. Science. 2022. PMID: 35709258
185 results