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Chris Inglehearn

Documents

CV of Chris Inglehearn [pdf]

Memberships

  • Association for Research in Vision and Ophthalmology (ARVO)

Key Publications

  1. C Geoffrey Woods, Kelly Springell, Daniel Hampshire, Moin D Mohamed, Martin McKibbin, James Cox, Rowena Stern, F Lucy Raymond, Richard Sandford, Saghira Malik, Gulshan Karbani, Mustaq Ahmed, Jacquelyn Bond, David Clayton and Inglehearn CF (2006).
    Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
    Am J Hum Genet; 78:889-96.
  2. Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T (2006).
    Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
    Nat Genet 38:755-7
  3. den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R.
    Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
    Nat Genet. 2007 Jul;39(7):889-95.
  4. Boon KL, Grainger RJ, Ehsani P, Barrass JD, Auchynnikava T, Inglehearn CF, Beggs JD.
    prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.
    Nat Struct Mol Biol. 2007 Nov;14(11):1077-83.
  5. Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF.
    Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
    Am J Hum Genet. 2009 Feb;84(2):266-73
  6. Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF.
    Null mutations in LTBP2 cause primary congenital glaucoma.
    Am J Hum Genet. 2009 May;84(5):664-71.
  7. Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF.
    Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
    Am J Hum Genet. 2009 May;84(5):683-91.
  8. Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N (2009).
    A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
    Nat Genet. 41:739-45
  9. 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.
    Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
    Am J Hum Genet. 2010 Feb 12;86(2):248-53.
  10. Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclaviz V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF (2010).
    Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
    Hum Mutat. 2010 Mar 15. [Epub ahead of print]
Chris Inglehearn
Chris Inglehearn

Research Group

Leeds Vision Research Group

[more information]

Contact

St James’s University Hospital

Leeds Institute of Molecular Medicine
Section of Ophthalmology and Neuroscience

Level 8, Wellcome Trust Brenner Building
Beckett Street, Leeds
LS9 7TF Leeds
United Kingdom

Phone: 0113 343 8646
Fax: 0113 343 8603

E-mail:
c.inglehearn[at]Leeds.ac.uk

Website:
www.limm.leeds.ac.uk/

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