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Page 1
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G. Ratbi I, et al. Among authors: poulter ja. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387595 Free PMC article.
IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy.
Tanner G, Barrow R, Ajaib S, Al-Jabri M, Ahmed N, Pollock S, Finetti M, Rippaus N, Bruns AF, Syed K, Poulter JA, Matthews L, Hughes T, Wilson E, Johnson C, Varn FS, Brüning-Richardson A, Hogg C, Droop A, Gusnanto A, Care MA, Cutillo L, Westhead DR, Short SC, Jenkinson MD, Brodbelt A, Chakrabarty A, Ismail A, Verhaak RGW, Stead LF. Tanner G, et al. Among authors: poulter ja. Genome Biol. 2024 Feb 7;25(1):45. doi: 10.1186/s13059-024-03172-3. Genome Biol. 2024. PMID: 38326875 Free PMC article.
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 Free PMC article.
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Khan K, Rudkin A, Parry DA, Burdon KP, McKibbin M, Logan CV, Abdelhamed ZI, Muecke JS, Fernandez-Fuentes N, Laurie KJ, Shires M, Fogarty R, Carr IM, Poulter JA, Morgan JE, Mohamed MD, Jafri H, Raashid Y, Meng N, Piseth H, Toomes C, Casson RJ, Taylor GR, Hammerton M, Sheridan E, Johnson CA, Inglehearn CF, Craig JE, Ali M. Khan K, et al. Among authors: poulter ja. Am J Hum Genet. 2011 Sep 9;89(3):464-73. doi: 10.1016/j.ajhg.2011.08.005. Am J Hum Genet. 2011. PMID: 21907015 Free PMC article.
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Khan K, Logan CV, McKibbin M, Sheridan E, Elçioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M. Khan K, et al. Among authors: poulter ja. Hum Mol Genet. 2012 Feb 15;21(4):776-83. doi: 10.1093/hmg/ddr509. Epub 2011 Nov 7. Hum Mol Genet. 2012. PMID: 22068589 Free PMC article.
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raïf el M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ. Parry DA, et al. Among authors: poulter ja. Am J Hum Genet. 2012 Sep 7;91(3):565-71. doi: 10.1016/j.ajhg.2012.07.020. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901946 Free PMC article.
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ. Parry DA, et al. Among authors: poulter ja. Am J Hum Genet. 2013 Feb 7;92(2):307-12. doi: 10.1016/j.ajhg.2013.01.003. Epub 2013 Jan 31. Am J Hum Genet. 2013. PMID: 23375655 Free PMC article.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R. Jaureguiberry G, et al. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Poulter JA, et al. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290379 Free PMC article. Review.
80 results