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Development of the human pancreas from foregut to endocrine commitment.
Jennings RE, Berry AA, Kirkwood-Wilson R, Roberts NA, Hearn T, Salisbury RJ, Blaylock J, Piper Hanley K, Hanley NA. Jennings RE, et al. Diabetes. 2013 Oct;62(10):3514-22. doi: 10.2337/db12-1479. Epub 2013 Apr 29. Diabetes. 2013. PMID: 23630303 Free PMC article.
LRIG2 mutations cause urofacial syndrome.
Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. Stuart HM, et al. Among authors: roberts na. Am J Hum Genet. 2013 Feb 7;92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11. Am J Hum Genet. 2013. PMID: 23313374 Free PMC article.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study; Woolf AS, Banka S. Cuvertino S, et al. Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006. Am J Hum Genet. 2017. PMID: 29220674 Free PMC article.
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS. Roberts NA, et al. Kidney Int. 2019 May;95(5):1138-1152. doi: 10.1016/j.kint.2018.11.040. Epub 2019 Mar 8. Kidney Int. 2019. PMID: 30885509 Free PMC article.
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.
Urquhart JE, Beaman G, Byers H, Roberts NA, Chervinsky E, O'Sullivan J, Pilz D, Fry A, Williams SG, Bhaskar SS, Khayat M, Simanovsky N, Shachar IB, Shalev SA, Newman WG. Urquhart JE, et al. Among authors: roberts na. Clin Genet. 2016 Jun;89(6):724-7. doi: 10.1111/cge.12734. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26757254
2,052 results