Beattie JR, Finnegan S, Hamilton RW, Ali M, Inglehearn CF, Stitt AW, McGarvey JJ, Hocking PM, Curry WJ. (2012) Profiling retinal biochemistry in the MPDZ mutant retinal dysplasia and degeneration chick, a model of human RP and LCA. Invest Ophthalmol Vis Sci. 53, 413-420.
Carr IM, Diggle CP, Touqan N, Anwar R, Sheridan EG, Bonthron DT, Johnson CA, Ali M, Markham AF. (2012) Identification of autosomal recessive disease loci using out-bred nuclear families. Hum Mutat. 33, 338-42.
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. (2012) Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet. 21, 776-783.
McKibbin M, Ali M, Bansal S, Baxter PD, West K, Williams G, Cassidy F, Inglehearn CF. (2012) CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration. Br J Ophthalmol. 96, 208-12.
Ali M, Hocking PM, McKibbin M, Finnegan S, Shires M, Poulter JA, Prescott K, Booth A, Raashid Y, Jafri H, Ruddle JB, Mackey DA, Jacobson SG, Toomes C, Lester DH, Burt DW, Curry WJ, Inglehearn CF. (2011) Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. Invest Ophthalmol Vis Sci. 52, 7432-7440.
Boote C, Elsheikh A, Kassem W, Kamma-Lorger CS, Hocking PM, White N, Inglehearn CF, Ali M, Meek KM. (2011) The influence of lamellar orientation on corneal material behavior: biomechanical and structural changes in an avian corneal disorder. Invest Ophthalmol Vis Sci. 52, 1243-1251.
Khan K, Al-Maskari A, McKibbin M, Carr IM, Booth A, Mohamed M, Siddiqui S, Poulter JA, Parry DA, Logan CV, Hashmi A, Sahi T, Jafri H, Raashid Y, Johnson CA, Markham AF, Toomes C, Rice A, Sheridan E, Inglehearn CF, Ali M. (2011) Genetic heterogeneity for recessively-inherited congenital cataract microcornea with corneal opacity. Invest Ophthalmol Vis Sci. 52, 4294-4299.
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. (2011) Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Am J Hum Genet. 89, 464-73.
Tummala H, Fleming S, Hocking PM, Wehner D, Naseem Z, Ali M, Inglehearn CF, Zhelev N, Lester DH. (2011) The D153del mutation in GNB3 gene causes tissue specific signalling patterns and an abnormal renal morphology in Rge chickens. PLoS One. 6(8):e21156. Epub Aug 22.
Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC. (2010) Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. Mol Vis 16, 1162-1168.
El-Sayed W, Shore RC, Parry DA, Inglehearn CF, Mighell AJ. Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation. Cells Tissues Organs. 2010;191(3):235-9.
Finnegan S, Robson J, Hocking PM, Ali M, Inglehearn CF, Stitt A, Curry WJ. Proteomic profiling of the retinal dysplasia and degeneration chick retina. Mol Vis. 2010 Jan 11;16:7-17.
McKibbin M, Ali M, Mohamed MD, Booth AP, Bishop F, Pal B, Springell K, Raashid Y, Jafri H, Inglehearn CF Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.. Arch Ophthalmol. 2010 Jan;128(1):107-13.
Pennington K., Peng J. H., Hung C. C., Banks R. E. and Robinson P. A. (2010) Differential effects of wild type and A53T mutant isoform of alpha-synuclein on the mitochondrial proteome of differentiated SH-SY5Y cells. Journal of Proteome Research.
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.
Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik 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. Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat. 2010 May;31(5):E1361-76.
Valente EM*, Logan CV*, Mougou-Zerelli S*, Ho Lee J*, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Eun Lee J, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis E, Mikula M, Strom CM, Ben-Ze’ev B, Lev D, Sagie TL, Yaron Y, Krause A, Boltshauser A, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA+, Attié-Bitach T+, Gleeson JG+ (2010). Mutations in TMEM216, encoding a novel tetraspan protein, perturb ciliogenesis and cause Joubert (JBTS2), Meckel (MKS2) and related syndromes. Nat. Genet. in press (* joint first authors, + joint corresponding authors).
Abdollahi, M. R., Morrison, E., Sirey, T., Molnar, Z., Hayward, B., Carr, I. M., Springell, K., Woods, C. J., Ahmed, M., Hattingh, L., Corry, P., Pilz, D., Stoodley, N., Taylor, G., Bonthron, D. T. and Sheridan, E. (2009). Mutation of the variant alpha tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. American Journal of Human Genetics 85(5), 737-744.
Adhi M, Rashid Y, Jafri SH, Inglehearn CF, McKibbin M. J. Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan. Coll Physicians Surg Pak. 2009 Dec;19(12):806-8.
Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5944-54.
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.
Al-Wandi A., Ninkina N., Millership S., Williamson S.J.M., Jones P.A. and Buchman V.L. (2010) Absence of α-synuclein affects dopamine metabolism and synaptic markers in the striatum of aging mice. Neurobiology of Aging. 31, 796-804.
Anand S, Sheridan E, Cassidy F, Inglehearn C, Williams G, Springell K, Allgar V, Kelly TL, McKibbin Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation M. Retina. 2009 May;29(5):682-8.
Boote C, Hayes S, Young RD, Kamma-Lorger CS, Hocking PM, Elsheikh A, Inglehearn CF, Ali M, Meek KM. Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea. J Struct Biol. 2009 May;166(2):195-204.
Carr I, Szymanska K, Sheridan E, Markham AM, Bonthron DT, Johnson CA (2009). Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders. Human Mut. 30: 1642-1649.
Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM (2009). Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet. 84: 197-209.
Davison E. J., Pennington K., Hung C. C., Peng, J. H., Rafiq, R., Ostareck-Lederer, A., Ostareck, D. H., Ardley, H. C., Banks, R. E. and Robinson, P. A. et al. (2009) Proteomic analysis of increased Parkin expression and its interactants provides evidence for a role in modulation of mitochondrial function. Proteomics, 9, 4284-4297.
Dawe HR, Adams M, Wheway G, Szymanska K, Logan CV, Noegel AA, Gull K, Johnson CA (2009). Nesprin-2 interacts with meckelin and mediates ciliogenesis through remodelling of the actin cytoskeleton. J Cell Sci. 122: 2716-2726.
El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet. 2009 Nov;85(5):699-705.
Gilmour DF, Downey LM, Sheridan E, Long V, Bradbury J, Inglehearn CF, Toomes C. Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2 Ophthalmology. 2009 Aug;116(8):1522-4.
Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Lukose L, Bryant JC, Golas G, Dorward H, Ciccone C, Daryanani KT, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA (2009). MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis and Joubert syndrome. J. Pediatr. 155: 386-392
Hettiarachchi N. T., Parker A., Dallas M. L., Pennington K., Hung C. C., Pearson H. A., Boyle J. P., Robinson P. A. and Peers C. (2009) alpha-Synuclein modulation of Ca2+ signaling in human neuroblastoma (SH-SY5Y) cells Journal of Neurochemistry, 111, 1192-1201.
Johnson CA (2009) Asphyxiating thoracic dystrophy. Encyclopedia of Molecular Mechanisms of Disease (ed. F. Lang), pp. 161-162. Springer-Verlag GmbH Berlin
Kamal M, Shaaban AM, Zhang L, Walker C, Gray S, Thakker N, Toomes C, Speirs V, Bell SM. Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma. Breast Cancer Res Treat. 2009 Aug 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. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 Jun;41(6):739-45.
Morrison. E. E (2009). The APC-EB1 interaction. Book chapter, in APC Proteins, edited by Inke S. Näthke and Brooke M. McCartney. Published by Landes Bioscience and Springer Science+Business Media..
Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, et al. The molecular landscape of ASPM mutations in primary microcephaly.J Med Genet 46(4) Apr 2009
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.
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.
Rice GI, Bond J, Asipu A, Brunette R, Manfield IW, Carr IM, Fuller J, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Coulthard LR, Aeby A, Sttard-Montalto SP, Bertini E, Bodemer C, Brockman K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BCJ, Heiberg A, Hunter M, Van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott M, Van der Merwe W, Orcesi S, Prendiville J, Rasmussen M, Shalev SA, Soler D, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson D, Bonthron DT, Crow YJ. (2009) Mutations in Aicardi-Goutieres syndrome implicate SAMHD1 as a novel regulator of the innate immune response. Nat Genet 41, 829-833.
Rice A, Nsengimana J, Simmons IG, Toomes C, Hoole J, Willoughby CE, Cassidy F, Williams GA, George ND, Sheridan E, Young TL, Hunter TI, Barrett BT, Elliott DB, Bishop DT, Inglehearn CF Replication of the recessive STBMS1 locus but with dominant inheritance.. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3210-7.
Rice A, Funnell CL, Pesudovs K, Noble BA, Ball JL. Mid-Term Outcomes Of Penetrating Keratoplasty and Deep Anterior Lamellar Keratoplasty – Eye, 2009 Dec;23(12):2263.
Adams M, Smith UM, Logan CV, Johnson CA. 2008 Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet. doi: 10.1136/jmg.2007.054999
Ali, M; Ramprasad, V.L; Soumittra, N; Mohamed, M.D; Jafri, H; Rashid, Y; Danciger, M; McKibbin, M; Kumaramanickavel, G; Inglehearn, C.F. 2008 A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration Mol Vis 14:1960-4
Boote C, Hayes S, Jones S, Quantock AJ, Hocking PM, Inglehearn CF, Ali M, Meek KM. 2007 Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype-An X-ray diffraction study. J Struct Biol 161: 1-8
Briggs, T.A; Abdel-Salam, G.M; Balicki, M; Baxter, P; Bertini, E; Bishop, N; Browne, B.H; Chitayat, D; Chong, W.K; Eid, M.M; Halliday, W; Hughes, I; Klusmann-Koy, A; Kurian, M; Nischal, K.K; Rice, G.I; Stephenson, J.B; Surtees, R; Talbot, J.F; Tehrani, N.N; Tolmie, J.L; Toomes, C; van der Knaap, M.S. 2008 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) Am Jour Med Gen 146A(2):182-190
Chatzimeletiou, K; Morrison, E.E; Prapas, N; Prapas, Y; Handyside, A.H. 2008 The centrosome and early embryogenesis: clinical insights. Reproductive BioMedicine Online 16(4):485-491
Cohn, A.C; Toomes, C; Hewitt, A.W; Kearns, L.S; Inglehearn, C.F; Craig, J.E; Mackey, D.A. 2008 The natural history of OPA1-related autosomal dominant optic atrophy Br J Ophthalmol 92(10):1333-6
Dunn, S; Morrison, E.E; Liverpool, T; Molina-Paris, C; Cross, R; Alonso, M; Peckham, M. 2008 Differential trafficking of kinesin-1 (Kif5c) on tyrosinated and detyrosinated microtubules in live cells. Journal of Cell Science 121:1085-1095
Graziotto JJ, Inglehearn CF, Pack MA, Pierce EA. 2008 Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration . Invest Ophthalmol Vis Sci 49:3830-8
Ivings, L; Towns, K.V; Matin, M.A; Taylor, C; Ponchel, F; Grainger, R.J; Ramesar, R.S; Mackey, D.A; Inglehearn, C.F. 2008 Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa Mol Vis 14:2357-66
Khaliq S, Abid A, White DR, Johnson CA, Ismail M, Khan A, Ayub Q, Sultana S, Maher ER, Mehdi SQ. 2007 Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. Am J Med Genet 143: 2768-74
Pymar, L; Platt, F; Askham, J; Morrison, E.E; Knowles, M. 2008 Bladder tumour derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms. Human Molecular Genetics 17(13):2006-2017
Prestwich, R.J; Errington, F; Ilett, E.J; Morgan, R; Scott, K; Kottke, T; Thompson, J; Morrison, E.E; Harrington, K.J; Pandha, H.S; Selby, P.J; Vile, R.G; Melcher, A.A. 2008 Tumor infection by oncolytic reovirus primes adaptive anti-tumor immunity. Clinical Cancer Research 14:7358-7366
Ramprasad, V.L; Soumittra, N; Nancarrow, D; Sen, P; McKibbin, M; Williams, G.A; Arokiasamy, T; Lakshmipathy, P; Inglehearn, C.F; Kumaramanickavel, G. 2008 Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis G Mol Vis 14:481-6
Robinson, P.A. 2008 Protein stability and aggregation in Parkinson's disease. Biochemical Journal 413, 1-13
Baala, L; Romano, S; Khaddour, R; Saunier, S; Smith, U.M; Audollent, S; Ozilou, C; Faivre, L; Laurent, N; Foliguet, B; Munnich, A; Lyonnet, S; Salomon, R; Encha- Razavi, F; Gubler, M.C; Boddaert, N; de Lonlay, P; Johnson, C.A; Vekemans, M; Antignac, C; Attie-Bitach, T 2007 The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 80: 186-194
Boon KL, Grainger RJ, Ehsani P, Barrass JD, Auchynnikava T, Inglehearn CF, Beggs JD 2007 Prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast. Nat Struct Mol Biol 14: 1077-83
Bruning-Richardson, A; Morrison, E.E. 2007 The adenomatous polyposis coli tumor suppressor protein and microtubule dynamics. Current Colorectal Cancer Reports 3(2):82-86
Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA 2007 Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 143: 656-62
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 2007 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 39: 889-95
Dawe, H.R; Smith, U.M; Cullinane, A.R; Gerrelli, D; Cox, P; Badano, J.L; Blair-Reid, S; Sriram, N; Katsanis, N; Attie-Bitach, T; Afford, S.C; Copp, A.J; Kelly, D.A; Gull, K; Johnson, C.A 2007 The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet 16: 173-186
Du, Y.Q; Danjo, K; Robinson, P.A. and Crabtree, J.E. 2007 In-Cell Western analysis of Helicobacter pylori-induced phosphorylation of extracellular-signal related kinase via the transactivation of the epidermal growth factor receptor. Microbes and Infection 9:838-846
Ghazawy S, Springell K, Gauba V, McKibbin MA, Inglehearn CF 2007 Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31. Br J Ophthalmol 91: 1411-3
Gogi, D; Bond, J; Long, V; Sheridan, E; Woods, C.G. 2007 Exudative retinopathy in a girl with Alstrom syndrome due to a novel mutation. Br J Ophthalmol. 91:983-4
Hewitt, A.W; Bennett, S.L; Richards, J.E; Dimasi, D.P; Booth, A.P; Inglehearn, C; Anwar, R; Yamamoto, T; Fingert, J.H; Heon, E; Craig, J.E; Mackey, D.A 2007 Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. Arch Ophthalmol 125: 98-104
Khaddour, R; Smith, U; Baala, L; Martinovic, J; Clavering, D; Shaffiq, R; Ozilou, C; Cullinane, A; Kyttala, M; Shalev, S; Audollent, S; d’Humieres, C; Kadhom, N; Esculpavit, C; Viot, G; Boone, C; Oien, C; Encha-Razavi, F; Batman, P.A; Bennett, C.P; Woods, C.G; Roume, J; Lyonnet, S; Genin, E; Le Merrer, M; Munnich, A; Gubler, M.C; Cox, P; Macdonald, F; Vekemans, M; Johnson, C.A; Attie-Bitach, T; SOFFOET (Societe Francaise de Foetopathologie). 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Hum Mutat 28: 523-524
Majava M, Bishop P, Hagg P, Scott G, Rice AR, Inglehearn CF, Hammond CJ, Spector TD, Ala-Kokko L, Mannikko M. 2007 Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia. Human Mutation 28(4): 336-344
Morrison, E. E. 2007 Action and interactions at microtubule ends. Cellular and Molecular Life Sciences 64:307-317
White, DR; Ganesh, A; Nishimura, D; Rattenberry, E; Ahmed, S; Smith, U.M; Pasha, S; Raeburn, S; Trembath, R.C; Rajab, A; Macdonald, F; Banin, E; Stone, E.M; Johnson, C.A; Sheffield, V.C; Maher, E.R 2007 Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet 15: 173-178