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Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.
O'Neill AC, Kyrousi C, Einsiedler M, Burtscher I, Drukker M, Markie DM, Kirk EP, Götz M, Robertson SP, Cappello S. O'Neill AC, et al. Among authors: robertson sp. Front Cell Neurosci. 2018 Mar 12;12:57. doi: 10.3389/fncel.2018.00057. eCollection 2018. Front Cell Neurosci. 2018. PMID: 29593499 Free PMC article.
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP. Cappello S, et al. Among authors: robertson sp. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22. Nat Genet. 2013. PMID: 24056717
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Bunn KJ, et al. Among authors: robertson sp. Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817014 Free PMC article.
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP. Gray MJ, et al. Among authors: robertson sp. Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001. Am J Hum Genet. 2015. PMID: 26637977 Free PMC article.
Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming.
Gascón S, Murenu E, Masserdotti G, Ortega F, Russo GL, Petrik D, Deshpande A, Heinrich C, Karow M, Robertson SP, Schroeder T, Beckers J, Irmler M, Berndt C, Angeli JP, Conrad M, Berninger B, Götz M. Gascón S, et al. Among authors: robertson sp. Cell Stem Cell. 2016 Mar 3;18(3):396-409. doi: 10.1016/j.stem.2015.12.003. Epub 2015 Dec 31. Cell Stem Cell. 2016. PMID: 26748418 Free article.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP. Wade EM, et al. Among authors: robertson sp. Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15. Am J Hum Genet. 2016. PMID: 27426733 Free PMC article.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Wade EM, et al. Among authors: robertson sp. Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28498505
185 results