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Chris Inglehearn

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David A Parry; James A Poulter; Yasmin Rashid; Haiqing Zhao; Babra M Anwari; Steven J Brookes; Christopher H Ferguson; Chris F Inglehearn; Hussain Jafri; Colin A Johnson; Clare V Logan; Alan J Mighell
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
David A Parry; James A Poulter; El Mostafa Raïf; Jihad Sayed; Roger C Shore; Graham R Taylor; J Tim Wright; Joanne E Morgan; Sharifa Al Harasi; Suhaila Al-Bahlani; Michael J Aldred; Martin Barron; Steven J Brookes; Ian Carr; Mayssoon Dashash; Michael J Dixon; Walid El-Sayed; Chris F Inglehearn; Colin A Johnson; Jennifer Kirkham; Clare V Logan; Alan J Mighell
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
James A Poulter; Panagiotis I Sergouniotis; Andrew R Webster; Genevieve A Wright; Manir Ali; Helen M Bottomley; Ian M Carr; Alice Davidson; Louise M Downey; David F Gilmour; Chris F Inglehearn; Vernon W Long; Robert E MacLaren; Helen A Mintz-Hittner; Anthony T Moore; David A Parry; Carmel Toomes
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

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All Publications

2013: David A Parry; James A Poulter; Yasmin Rashid; Haiqing Zhao; Babra M Anwari; Steven J Brookes; Christopher H Ferguson; Chris F Inglehearn; Hussain Jafri; Colin A Johnson; Clare V Logan; Alan J Mighell
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
American journal of human genetics 2013;92(2):307-12.
2012: David A Parry; James A Poulter; El Mostafa Raïf; Jihad Sayed; Roger C Shore; Graham R Taylor; J Tim Wright; Joanne E Morgan; Sharifa Al Harasi; Suhaila Al-Bahlani; Michael J Aldred; Martin Barron; Steven J Brookes; Ian Carr; Mayssoon Dashash; Michael J Dixon; Walid El-Sayed; Chris F Inglehearn; Colin A Johnson; Jennifer Kirkham; Clare V Logan; Alan J Mighell
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
American journal of human genetics 2012;91(3):565-71.
2012: James A Poulter; Panagiotis I Sergouniotis; Andrew R Webster; Genevieve A Wright; Manir Ali; Helen M Bottomley; Ian M Carr; Alice Davidson; Louise M Downey; David F Gilmour; Chris F Inglehearn; Vernon W Long; Robert E MacLaren; Helen A Mintz-Hittner; Anthony T Moore; David A Parry; Carmel Toomes
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Investigative ophthalmology & visual science 2012;53(6):2873-9.
2012: Kamron Khan; Clare V Logan; Martin McKibbin; Moin D Mohamed; Joanne E Morgan; David A Parry; James A Poulter; Yasmin Raashid; Eamonn Sheridan; Graham R Taylor; Carmel Toomes; Ozlem Yenice; Ahmed Al-Maskari; Ian M Carr; Nursel H Elçioglu; Narcis Fernandez-Fuentes; Chris F Inglehearn; Hussain Jafri; Colin A Johnson; Zakia I A Abdelhamed; Manir Ali
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Human molecular genetics 2012;21(4):776-83.
2012: Martin McKibbin; Kumi West; Grange Williams; Manir Ali; Shveta Bansal; Paul D Baxter; Frances Cassidy; Chris F Inglehearn
CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration.
The British journal of ophthalmology 2012;96(2):208-12.
2011: Ian M Carr; Christine P Diggle; Chris F Inglehearn; Clare V Logan; Alexander F Markham; Joanne E Morgan; Eamonn Sheridan; Graham R Taylor; David T Bonthron
Illuminator, a desktop program for mutation detection using short-read clonal sequencing.
Genomics 2011;98(4):302-9.
2011: Kamron Khan; Kate J Laurie; Clare V Logan; Martin McKibbin; Ngy Meng; Moin D Mohamed; Joanne E Morgan; James S Muecke; David A Parry; Horm Piseth; James A Poulter; Yasmin Raashid; Adam Rudkin; Eamonn Sheridan; Michael Shires; Graham R Taylor; Carmel Toomes; Kathryn P Burdon; Ian M Carr; Robert J Casson; Jamie E Craig; Narcis Fernandez-Fuentes; Rhys Fogarty; Michael Hammerton; Chris F Inglehearn; Hussain Jafri; Colin A Johnson; Zakia I A Abdelhamed; Manir Ali
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
American journal of human genetics 2011;89(3):464-73.
2011: Manir Ali; Adam Booth; David W Burt; William J Curry; Sorcha Finnegan; Paul M Hocking; Samuel G Jacobson; Hussain Jafri; Douglas H Lester; David A Mackey; Martin McKibbin; James A Poulter; Katrina Prescott; Yasmin Raashid; Jonathan B Ruddle; Mike Shires; Carmel Toomes; Chris F Inglehearn
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
Investigative ophthalmology & visual science 2011;52(10):7432-40.
2011: Kamron N Khan; Carmel Toomes; Manir Ali; Chris F Inglehearn; John Bradbury
Changing the status quo bias.
The British journal of ophthalmology 2011;95(7):1034.
2011: Kamron Khan; Clara V Logan; Alex F Markham; Martin McKibbin; Moin Mohamed; David A Parry; James A Poulter; Yasmin Raashid; Aine Rice; Tehseen Sahi; Eamonn Sheridan; Salina Siddiqui; Carmel Toomes; Ahmed Al-Maskari; Adam Booth; Ian M Carr; Anwar Hashmi; Chris F Inglehearn; Hussain Jafri; Colin A Johnson; Manir Ali
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.
Investigative ophthalmology & visual science 2011;52(7):4294-9.
2011: K Khan; M Ali; Chris F Inglehearn
A possible genetic answer to a recently reported novel phenotype.
Eye (London, England) 2011;25(4):529; author reply 529-30.
2011: Craig Boote; Ahmed Elsheikh; Wael Kassem; Christina S Kamma-Lorger; Paul M Hocking; Nick White; Chris F Inglehearn; Manir Ali; Keith M Meek
The influence of lamellar orientation on corneal material behavior: biomechanical and structural changes in an avian corneal disorder.
Investigative ophthalmology & visual science 2011;52(3):1243-51.
2011: W El-Sayed; Chris F Inglehearn; D A Parry; Roger C Shore; Alan J Mighell
Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
Cells, tissues, organs 2011;194(1):60-6.
2011: John J Graziotto; Michael H Farkas; Kinga Bujakowska; Bertrand M Deramaudt; Qi Zhang; Emeline F Nandrot; Chris F Inglehearn; Shomi S Bhattacharya; Eric A Pierce
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.
Investigative ophthalmology & visual science 2011;52(1):190-8.
2010: Katherine V Towns; Athina Kipioti; Vernon Long; Martin McKibbin; Cecilia Maubaret; Veronika Vaclavik; Parastoo Ehsani; Kelly Springell; Mohamed Kamal; Raj S Ramesar; David A Mackey; Anthony T Moore; Rajarshi Mukhopadhyay; Andrew R Webster; Graeme C M Black; James O'Sullivan; Shomi S Bhattacharya; Eric A Pierce; Jean D Beggs; Chris F Inglehearn
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Human mutation 2010;31(5):E1361-76.
2010: James A Poulter; Manir Ali; David F Gilmour; Aine Rice; Hiroyuki Kondo; Kenshi Hayashi; David A Mackey; Lisa S Kearns; Jonathan B Ruddle; Jamie E Craig; Eric A Pierce; Louise M Downey; Moin D Mohamed; Alexander F Markham; Chris F Inglehearn; Carmel Toomes
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
American journal of human genetics 2010;86(2):248-53.
2010: Nancy L Parmalee; Carl Schubert; Joanna E Merriam; Kaija Allikmets; Alan C Bird; Mark C Gillies; Tunde Peto; Maria Figueroa; Martin Friedlander; Marcus Fruttiger; John Greenwood; Stephen E Moss; Lois E H Smith; Carmel Toomes; Chris F Inglehearn; Rando Allikmets
Analysis of candidate genes for macular telangiectasia type 2.
Molecular vision 2010;16():2718-26.
2010: Manir Ali; Beatriz Buentello-Volante; Martin McKibbin; J Alberto Rocha-Medina; Narcis Fernandez-Fuentes; Wilson Koga-Nakamura; Aruna Ashiq; Kamron Khan; Adam P Booth; Grange Williams; Yasmin Raashid; Hussain Jafri; Aine Rice; Chris F Inglehearn; Juan Carlos Zenteno
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
Molecular vision 2010;16():1162-8.
2010: W El-Sayed; R C Shore; D A Parry; Chris F Inglehearn; Alan J Mighell
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.
2010: Sorcha Finnegan; Joanne Robson; Paul M Hocking; Manir Ali; Chris F Inglehearn; Alan Stitt; William J Curry
Proteomic profiling of the retinal dysplasia and degeneration chick retina.
Molecular vision 2010;16():7-17.
2010: Martin McKibbin; Manir Ali; Moin D Mohamed; Adam P Booth; Fiona Bishop; Bishwanath Pal; Kelly Springell; Yasmin Raashid; Hussain Jafri; Chris F Inglehearn
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
Archives of ophthalmology 2010;128(1):107-13.
2009: Mehreen Adhi; Yasmin Rashid; Syed Hussain Jafri; Chris F Inglehearn; Martin McKibbin
Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2009;19(12):806-8.
2009: Tomas S Aleman; Nagasamy Soumittra; Artur Vahe Cideciyan; Alexander M Sumaroka; Vedam Lakshmi Ramprasad; Waldo Herrera; Elizabeth A M Windsor; Sharon B Schwartz; Robert C Russell; Alejandro J Roman; Chris F Inglehearn; Govindasamy Kumaramanickavel; Edwin M Stone; Gerald A Fishman; Samuel G Jacobson
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Investigative ophthalmology & visual science 2009;50(12):5944-54.
2009: Walid El-Sayed; David A Parry; Roger C Shore; Mushtaq Ahmed; Hussain Jafri; Yasmin Rashid; Suhaila Al-Bahlani; Sharifa Al Harasi; Jennifer Kirkham; Chris F Inglehearn; Alan J Mighell
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
American journal of human genetics 2009;85(5):699-705.
2009: David F Gilmour; Louise M Downey; Eamonn Sheridan; Vernon Long; John Bradbury; Chris F Inglehearn; Carmel Toomes
Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
Ophthalmology 2009;116(8):1522-4.
2009: Aine Rice; Jérémie Nsengimana; Ian G Simmons; Carmel Toomes; Janice Hoole; Colin Willoughby; Frances Cassidy; Grange A Williams; Nick D George; Eamonn Sheridan; Terri L Young; Tim I Hunter; Brendan T Barrett; David B Elliott; D Tim Bishop; Chris F Inglehearn
Replication of the recessive STBMS1 locus but with dominant inheritance.
Investigative ophthalmology & visual science 2009;50(7):3210-7.
2009: David A Parry; Carmel Toomes; Lina Bida; Michael Danciger; Katherine V Towns; Martin McKibbin; Samuel G Jacobson; Clare V Logan; Manir Ali; Jacquelyn Bond; Rebecca Chance; Steven Swendeman; Lauren L Daniele; Kelly Springell; Matthew Adams; Colin A Johnson; Adam P Booth; Hussain Jafri; Yasmin Rashid; Eyal Banin; Tim M Strom; Debora B Farber; Dror Sharon; Carl P Blobel; Edward N Pugh; Eric A Pierce; Chris F Inglehearn
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
American journal of human genetics 2009;84(5):683-91.
2009: Manir Ali; Martin McKibbin; Adam Booth; David A Parry; Payal Jain; Sheikh Amer Riazuddin; J Fielding Hejtmancik; Shaheen N Khan; Sabika Firasat; Mike Shires; David F Gilmour; Katherine Towns; Anna-Louise Murphy; Dimitar Azmanov; Ivailo Tournev; Sylvia Cherninkova; Hussain Jafri; Yasmin Raashid; Carmel Toomes; Jamie Craig; David A Mackey; Luba Kalaydjieva; Sheikh Riazuddin; Chris F Inglehearn
Null mutations in LTBP2 cause primary congenital glaucoma.
American journal of human genetics 2009;84(5):664-71.
2009: Seema Anand; Eamonn Sheridan; Frances Cassidy; Chris F Inglehearn; Grange Williams; Kelly Springell; Victoria L Allgar; Thu-Lan Kelly; Martin McKibbin
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
Retina (Philadelphia, Pa.) 2009;29(5):682-8.
2009: Craig Boote; Sally Hayes; Robert D Young; Christina S Kamma-Lorger; Paul M Hocking; Ahmed Elsheikh; Chris F Inglehearn; Manir Ali; Keith M Meek
Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea.
Journal of structural biology 2009;166(2):195-204.
2009: David A Parry; Alan J Mighell; Walid El-Sayed; Roger C Shore; Ismail K Jalili; Hélène Dollfus; Agnes Bloch-Zupan; Roman Carlos; Ian Carr; Louise M Downey; Katharine M Blain; David C Mansfield; Mehdi Shahrabi; Mansour Heidari; Parissa Aref; Mohsen Abbasi; Michel Michaelides; Anthony T Moore; Jennifer Kirkham; Chris F Inglehearn
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
American journal of human genetics 2009;84(2):266-73.
2008: A C Cohn; C Toomes; Alex W Hewitt; L S Kearns; Chris F Inglehearn; Jamie E Craig; David A Mackey
The natural history of OPA1-related autosomal dominant optic atrophy.
The British journal of ophthalmology 2008;92(10):1333-6.
2008: John J Graziotto; Chris F Inglehearn; Michael A Pack; Eric A Pierce
Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration.
Investigative ophthalmology & visual science 2008;49(9):3830-8.
2008: Manir Ali; Vedam Lakshmi Ramprasad; Nagasamy Soumittra; Moin D Mohamed; Hussain Jafri; Yasmin Rashid; Michael Danciger; Martin McKibbin; Govindasamy Kumaramanickavel; Chris F Inglehearn
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
Molecular vision 2008;14():1960-4.
2008: Vedam Lakshmi Ramprasad; Nagasamy Soumittra; Derek Nancarrow; Parveen Sen; Martin McKibbin; Grange A Williams; Tharigopala Arokiasamy; Praveena Lakshmipathy; Chris F Inglehearn; Govindasamy Kumaramanickavel
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
Molecular vision 2008;14():481-6.
2008: Craig Boote; Sally Hayes; Simon Jones; Andrew J Quantock; Paul M Hocking; Chris F Inglehearn; Manir Ali; Keith M Meek
Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype--an X-ray diffraction study.
Journal of structural biology 2008;161(1):1-8.
2007: Kum-Loong Boon; Richard J Grainger; Parastoo Ehsani; J David Barrass; Tatsiana Auchynnikava; Chris F Inglehearn; Jean D Beggs
prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.
Nature structural & molecular biology 2007;14(11):1077-83.
2007: S Ghazawy; Kelly Springell; V Gauba; Martin McKibbin; Chris F Inglehearn
Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.
The British journal of ophthalmology 2007;91(10):1411-3.
2007: Amy C Cohn; Carmel Toomes; Catherine Potter; Katherine V Towns; Alex W Hewitt; Chris F Inglehearn; Jamie E Craig; David A Mackey
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
American journal of ophthalmology 2007;143(4):656-62.
2007: Marja Majava; Paul N Bishop; Pasi Hägg; Paul G Scott; Aine Rice; Chris F Inglehearn; Christopher J Hammond; Tim D Spector; Leena Ala-Kokko; Minna Männikkö
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia.
Human mutation 2007;28(4):336-44.
2007: Alex W Hewitt; Sonya L Bennett; Julia E Richards; David P Dimasi; Adam P Booth; Chris F Inglehearn; Rashida Anwar; Tetsuya Yamamoto; John H Fingert; Elise Héon; Jamie E Craig; David A Mackey
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
Archives of ophthalmology 2007;125(1):98-104.
2006: Hemanth Tummala; Manir Ali; Paul Getty; Paul M Hocking; David W Burt; Chris F Inglehearn; Douglas H Lester
Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens.
Investigative ophthalmology & visual science 2006;47(11):4714-8.
2006: Louise M Downey; Helen M Bottomley; Eammond Sheridan; M Ahmed; D F Gilmour; Chris F Inglehearn; A Reddy; A Agrawal; J Bradbury; Carmel Toomes
Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.
The British journal of ophthalmology 2006;90(9):1163-7.
2006: Eranga N Vithana; Patricio Morgan; Sundaresan Periasamy; Neil D Ebenezer; Donald T H Tan; Moin D Mohamed; Seema Anand; Khin O Khine; Divya Venkataraman; Victor H K Yong; Manuel Salto-Tellez; Anandalakshmi Venkatraman; Ke Guo; Boomiraj Hemadevi; Muthiah Srinivasan; Venkatesh Prajna; Myint Khine; Joseph R Casey; Chris F Inglehearn; Tin Aung
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Nature genetics 2006;38(7):755-7.
2006: C Geoffrey Woods; James Cox; Kelly Springell; Daniel J Hampshire; Moin D Mohamed; Martin McKibbin; Rowena Stern; F Lucy Raymond; Richard Sandford; Saghira Malik Sharif; Gulshan Karbani; Mustaq Ahmed; Jacquelyn Bond; David Clayton; Chris F Inglehearn
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
American journal of human genetics 2006;78(5):889-96.
2006: Helen M Bottomley; Louise M Downey; Chris F Inglehearn; Carmel Toomes
Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'.
European journal of human genetics : EJHG 2006;14(1):6-7; author reply 7-8.
2005: Carmel Toomes; Louise M Downey; Helen M Bottomley; H A Mintz-Hittner; Chris F Inglehearn
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.
The British journal of ophthalmology 2005;89(2):194-7.
2004: Hiroshi Maita; Hirotake Kitaura; T Jeffrey Keen; Chris F Inglehearn; Hiroyoshi Ariga; Sanae M M Iguchi-Ariga
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.
Experimental cell research 2004;300(2):283-96.
2004: B Pal; Moin D Mohamed; T Jeffrey Keen; G A Williams; J A Bradbury; Eammond Sheridan; Chris F Inglehearn
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.
Journal of medical genetics 2004;41(10):772-7.
2004: Carmel Toomes; Helen M Bottomley; Sheila Scott; David A Mackey; Jamie E Craig; Binoy Appukuttan; J Timothy Stout; Christina J Flaxel; Kang Zhang; Graeme C M Black; Alan Fryer; Louise M Downey; Chris F Inglehearn
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
Investigative ophthalmology & visual science 2004;45(7):2083-90.
2004: Carmel Toomes; Helen M Bottomley; Richard M Jackson; Katherine V Towns; Sheila Scott; David A Mackey; Jamie E Craig; Li Jiang; Zhenglin Yang; Richard C Trembath; Geoffrey Woodruff; Cheryl Y Gregory-Evans; Kevin Gregory-Evans; Michael J Parker; Graeme C M Black; Louise M Downey; Kang Zhang; Chris F Inglehearn
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
American journal of human genetics 2004;74(4):721-30.
2004: Carmel Toomes; Louise M Downey; Helen M Bottomley; Sheila Scott; Geoffrey Woodruff; Richard C Trembath; Chris F Inglehearn
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).
Molecular vision 2004;10():37-42.
2003: Frederique Ponchel; Carmel Toomes; Kieran L Bransfield; Fong T Leong; Susan H Douglas; Sarah L Field; Sandra M Bell; Valérie Combaret; Alain Puisieux; Alan J Mighell; Philip A Robinson; Chris F Inglehearn; John D Isaacs; Alexander F Markham
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions.
BMC biotechnology 2003;3():18.
2003: Brenda L Powell; Carmel Toomes; Shiela Scott; Anna Yeung; Nicola J Marchbank; Paul G D Spry; Rosemary Lumb; Chris F Inglehearn; Amanda J Churchill
Polymorphisms in OPA1 are associated with normal tension glaucoma.
Molecular vision 2003;9():460-4.
2003: Chris F Inglehearn; David R Morrice; Douglas H Lester; Graeme W Robertson; Moin D Mohamed; Ian Simmons; Louise M Downey; Caroline Thaung; Leslie R Bridges; Ian R Paton; Jacqueline Smith; Simon M Petersen-Jones; Paul M Hocking; David W Burt
Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken.
Molecular vision 2003;9():295-300.
2003: T Jeffrey Keen; Moin D Mohamed; Martin McKibbin; Yasmin Rashid; Hussain Jafri; Irene H Maumenee; Chris F Inglehearn
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.
European journal of human genetics : EJHG 2003;11(5):420-3.
2003: David W Burt; David R Morrice; Douglas H Lester; Graeme W Robertson; Moin D Mohamed; Ian Simmons; Louise M Downey; Caroline Thaung; Leslie R Bridges; Ian R Paton; Mike Gentle; Jacqueline Smith; Paul M Hocking; Chris F Inglehearn
Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.
Molecular vision 2003;9():164-70.
2003: Moin D Mohamed; N C Topping; Hussain Jafri; Y Raashed; Martin McKibbin; Chris F Inglehearn
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
The British journal of ophthalmology 2003;87(4):473-5.
2003: Matthew M Hims; S P Diager; Chris F Inglehearn
Retinitis pigmentosa: genes, proteins and prospects.
Developments in ophthalmology 2003;37():109-25.
2002: Louise M Downey; T Jeffrey Keen; Ismail K Jalili; John McHale; Michael J Aldred; Steven P Robertson; Alan Mighell; Steven Fayle; Bernd Wissinger; Chris F Inglehearn
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.
European journal of human genetics : EJHG 2002;10(12):865-9.
2002: N Patel; Amanda J Churchill; Carmel Toomes; Nicola J Marchbank; Chris F Inglehearn; N Foulds; A Moosavi; M Teimory
Importance of molecular testing in dominant optic atrophy.
The British journal of ophthalmology 2002;86(11):1314-5.
2002: Nicola J Marchbank; Jamie E Craig; Jack P Leek; Michael G Toohey; Amanda J Churchill; Alexander F Markham; David A Mackey; Carmel Toomes; Chris F Inglehearn
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.
Journal of medical genetics 2002;39(8):e47.
2002: T Jeffrey Keen; Matthew M Hims; Arthur B McKie; Anthony T Moore; Rob M Doran; David A Mackey; David C Mansfield; Robert F Mueller; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
European journal of human genetics : EJHG 2002;10(4):245-9.
2002: Christina F Chakarova; Matthew M Hims; Hanno Bolz; Leen Abu-Safieh; Reshma J Patel; Mary Papaioannou; Chris F Inglehearn; T Jeffrey Keen; Catherine Willis; Anthony T Moore; Thomas Rosenberg; Andrew R Webster; Alan C Bird; Andreas Gal; David Hunt; Eranga N Vithana; Shomi S Bhattacharya
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Human molecular genetics 2002;11(1):87-92.
2001: Michael Danciger; J Hendrickson; Jessica Lyon; Carmel Toomes; John McHale; Gerald A Fishman; Chris F Inglehearn; Samuel G Jacobson; Debora B Farber
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
Investigative ophthalmology & visual science 2001;42(11):2458-65.
2001: Arthur B McKie; John McHale; T Jeffrey Keen; Emma E Tarttelin; R Goliath; Janneke J C van Lith-Verhoeven; Jacquie Greenberg; Rajkumar Ramesar; Carel B Hoyng; Frans P M Cremers; David A Mackey; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
Human molecular genetics 2001;10(15):1555-62.
2001: Carmel Toomes; Nicola J Marchbank; David A Mackey; Jamie E Craig; R A Newbury-Ecob; C P Bennett; C J Vize; S P Desai; Graeme C M Black; N Patel; M Teimory; Alexander F Markham; Chris F Inglehearn; Amanda J Churchill
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Human molecular genetics 2001;10(13):1369-78.
2001: Moin D Mohamed; Martin McKibbin; Hussain Jafri; Y Rasheed; C Geoffrey Woods; Chris F Inglehearn
A new pedigree with recessive mapping to CHED2 locus on 20p13.
The British journal of ophthalmology 2001;85(6):758-9.
2001: Louise M Downey; T Jeffrey Keen; E Roberts; David C Mansfield; MAHFOUTH BAMASHMUS; Chris F Inglehearn
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.
American journal of human genetics 2001;68(3):778-81.
2001: N J Murton; L French; Carmel Toomes; S S Joseph; I Rehman; B L Hopkins; Chris F Inglehearn; Amanda J Churchill
A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype.
Cytogenetics and cell genetics 2001;92(1-2):97-102.
2000: N J Murton; I Rehman; Graeme C M Black; Chris F Inglehearn; Amanda J Churchill
A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.
Human mutation 2000;15(6):582.
2000: MAHFOUTH BAMASHMUS; Louise M Downey; Chris F Inglehearn; SR Gupta; David C Mansfield
Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.
The British journal of ophthalmology 2000;84(4):358-63.
2000: John McHale; Arthur B McKie; Emma E Tarttelin; Chris F Inglehearn
Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus.
Cytogenetics and cell genetics 2000;88(3-4):225-9.
1999: Sara J Bowne; Stephen P Daiger; Matthew M Hims; Melanie M Sohocki; Kimberly A Malone; Arthur B McKie; John R Heckenlively; David G Birch; Chris F Inglehearn; Shomi S Bhattacharya; A Bird; Lori S Sullivan
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Human molecular genetics 1999;8(11):2121-8.
1999: Chris F Inglehearn; John McHale; T Jeffrey Keen; H Skirton; P W Lunt
A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q.
Journal of medical genetics 1999;36(8):646-8.
1999: Lori S Sullivan; John R Heckenlively; Sara J Bowne; Jian Zuo; Winston Hide; A Gal; M Denton; Chris F Inglehearn; S Blanton; Stephen P Daiger
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
Nature genetics 1999;22(3):255-9.
1998: Chris F Inglehearn; Emma E Tarttelin; T Jeffrey Keen; Shomi S Bhattacharya; Anthony T Moore; R Taylor; Alan C Bird
A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21.
Journal of medical genetics 1998;35(9):788-9.
1998: M al-Maghtheh; Eranga N Vithana; Chris F Inglehearn; T Moore; Alan C Bird; Shomi S Bhattacharya
Segregation of a PRKCG mutation in two RP11 families.
American journal of human genetics 1998;62(5):1248-52.
1998: Eranga N Vithana; M al-Maghtheh; Shomi S Bhattacharya; Chris F Inglehearn
RP11 is the second most common locus for dominant retinitis pigmentosa.
Journal of medical genetics 1998;35(2):174-5.
1998: Chris F Inglehearn
Molecular genetics of human retinal dystrophies.
Eye (London, England) 1998;12 ( Pt 3b)():571-9.
1998: Chris F Inglehearn; Emma E Tarttelin; C Plant; R E Peacock; M al-Maghtheh; Eranga N Vithana; Alan C Bird; Shomi S Bhattacharya
A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.
Journal of medical genetics 1998;35(1):1-5.
1997: Chris F Inglehearn; C Y Gregory
Meiotic drive at the myotonic dystrophy and the cone-rod dystrophy loci on chromosome 19q13.3.
American journal of human genetics 1997;60(6):1562-3.
1997: T Jeffrey Keen; Alex G Morris; Chris F Inglehearn
Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families.
Journal of medical genetics 1997;34(2):130-2.
1996: P A Reynolds; R M Powlesland; T Jeffrey Keen; Chris F Inglehearn; A F Cunningham; Eric Green; Keith W Brown
Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities.
Genes, chromosomes & cancer 1996;17(3):151-5.
1996: M al-Maghtheh; Eranga N Vithana; Emma E Tarttelin; MR Jay; K Evans; T Moore; Shomi Bhattacharya; Chris F Inglehearn
Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.
American journal of human genetics 1996;59(4):864-71.
1996: Emma E Tarttelin; C Plant; Jean Weissenbach; Alan C Bird; Shomi S Bhattacharya; Chris F Inglehearn
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
Journal of medical genetics 1996;33(6):518-20.
1996: Emma E Tarttelin; M al-Maghtheh; J Keen; Shomi Bhattacharya; Chris F Inglehearn
Simple tests for rhodopsin involvement in retinitis pigmentosa.
Journal of medical genetics 1996;33(3):262-3.
1996: T Jeffrey Keen; Chris F Inglehearn
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Human mutation 1996;8(4):297-303.
1995: N M Toma; Neil ebenezer; Chris F Inglehearn; C Plant; L A Ficker; Shomi S Bhattacharya
Linkage of congenital hereditary endothelial dystrophy to chromosome 20.
Human molecular genetics 1995;4(12):2395-8.
1995: R J Patel; T Jeffrey Keen; K H Grzeschik; W C Nierman; P Hayes; Shomi S Bhattacharya; Chris F Inglehearn
Regional assignment of 30 expressed sequence tags on human chromosome 7 using a somatic cell hybrid panel.
Genomics 1995;30(1):112-4.
1995: K Evans; M al-Maghtheh; Frederick W Fitzke; Anthony T Moore; MR Jay; Chris F Inglehearn; Geoffrey B Arden; Alan C Bird
Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.
The British journal of ophthalmology 1995;79(9):841-6.
1995: T Jeffrey Keen; Chris F Inglehearn; Eric Green; A F Cunningham; R J Patel; R E Peacock; S Gerken; R White; Jean Weissenbach; Shomi S Bhattacharya
A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p.
Genomics 1995;28(3):383-8.
1995: Soraya Bardien; Neil ebenezer; Jacquie Greenberg; Chris F Inglehearn; L Bartmann; R Goliath; Peter Beighton; Rajkumar Ramesar; S S Bhattacharya
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
Human molecular genetics 1995;4(8):1459-62.
1995: T Jeffrey Keen; Chris F Inglehearn; R J Patel; Eric Green; D C Peluso; Shomi S Bhattacharya
Localization of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526.
Genomics 1995;25(2):599-600.
1995: R Y Kim; Frederick W Fitzke; Anthony T Moore; MR Jay; Chris F Inglehearn; Geoffrey B Arden; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.
The British journal of ophthalmology 1995;79(1):23-7.
1994: J J Wroblewski; J A Wells; A Eckstein; Frederick W Fitzke; C Jubb; T Jeffrey Keen; Chris F Inglehearn; Shomi S Bhattacharya; Geoffrey B Arden; M R Jay
Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
The British journal of ophthalmology 1994;78(11):831-6.
1994: Chris F Inglehearn; T Jeffrey Keen; M al-Maghtheh; Shomi Bhattacharya
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.
American journal of human genetics 1994;55(3):581-2.
1994: Sarah L Owens; Frederick W Fitzke; Chris F Inglehearn; MR Jay; T Jeffrey Keen; Geoffrey B Arden; Shomi S Bhattacharya; Alan C Bird
Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.
The British journal of ophthalmology 1994;78(5):353-8.
1994: Chris F Inglehearn; T Jeffrey Keen; M al-Maghtheh; C Y Gregory; M R Jay; Anthony T Moore; Alan C Bird; Shomi S Bhattacharya
Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).
American journal of human genetics 1994;54(4):675-80.
1994: K Evans; A Fryer; Chris F Inglehearn; J Duvall-Young; J L Whittaker; C Y Gregory; R Butler; Neil ebenezer; David Hunt; Shomi Bhattacharya
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.
Nature genetics 1994;6(2):210-3.
1994: T Jeffrey Keen; Chris F Inglehearn; R Kim; Alan C Bird; Shomi Bhattacharya
Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.
Human molecular genetics 1994;3(2):367-8.
1994: M al-Maghtheh; Chris F Inglehearn; T Jeffrey Keen; K Evans; Anthony T Moore; MR Jay; Alan C Bird; Shomi S Bhattacharya
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
Human molecular genetics 1994;3(2):351-4.
1994: J J Wroblewski; J A Wells; A Eckstein; Frederick W Fitzke; C Jubb; T Jeffrey Keen; Chris F Inglehearn; Shomi Bhattacharya; Geoffrey B Arden; MR Jay
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.
Ophthalmology 1994;101(1):12-22.
1994: M al-Maghtheh; R Y Kim; Alison J Hardcastle; Chris F Inglehearn; Shomi S Bhattacharya
A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.
Human molecular genetics 1994;3(1):205-6.
1994: M al-Maghtheh; Chris F Inglehearn; P Lunt; MR Jay; A Bird; Shomi Bhattacharya
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
Human mutation 1994;3(4):409-10.
1993: Chris F Inglehearn; J Farrar; M Denton; A Gal; P Humphries; S Bhattacharya
Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q.
American journal of human genetics 1993;53(2):536-7.
1993: Anthony T Moore; Frederick W Fitzke; MR Jay; Geoffrey B Arden; Chris F Inglehearn; T Jeffrey Keen; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.
The British journal of ophthalmology 1993;77(8):473-9.
1993: Chris F Inglehearn; S A Carter; T Jeffrey Keen; J Lindsey; A M Stephenson; Rumaisa Bashir; M al-Maghtheh; Anthony T Moore; MR Jay; Alan C Bird
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
Nature genetics 1993;4(1):51-3.
1993: J Wells; J Wroblewski; J Keen; Chris F Inglehearn; C Jubb; A Eckstein; MR Jay; Geoffrey B Arden; Shomi Bhattacharya; Frederick W Fitzke
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Nature genetics 1993;3(3):213-8.
1993: M al-Maghtheh; C Gregory; Chris F Inglehearn; Alison J Hardcastle; Shomi Bhattacharya
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Human mutation 1993;2(4):249-55.
1992: Rumaisa Bashir; Chris F Inglehearn; T Jeffrey Keen; J Lindsey; U Atif; S A Carter; A M Stephenson; A Jackson; MR Jay; Alan C Bird
Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP.
Genomics 1992;14(1):191-3.
1992: Anthony T Moore; Frederick W Fitzke; C M Kemp; Geoffrey B Arden; T Jeffrey Keen; Chris F Inglehearn; Shomi S Bhattacharya; A C Bird
Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.
The British journal of ophthalmology 1992;76(8):465-9.
1992: S Lindsay; Chris F Inglehearn; A Curtis; Shomi Bhattacharya
Molecular genetics of inherited retinal degenerations.
Current opinion in genetics & development 1992;2(3):459-66.
1992: Chris F Inglehearn; T Jeffrey Keen; Rumaisa Bashir; MR Jay; Frederick W Fitzke; Alan C Bird; A Crombie; Shomi Bhattacharya
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.
Human molecular genetics 1992;1(1):41-5.
1992: Chris F Inglehearn; D H Lester; Rumaisa Bashir; U Atif; T Jeffrey Keen; A Sertedaki; J Lindsey; MR Jay; Alan C Bird; G Jane Farrar
Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.
American journal of human genetics 1992;50(3):590-7.
1991: T Jeffrey Keen; Chris F Inglehearn; D H Lester; Rumaisa Bashir; MR Jay; Alan C Bird; B Jay; Shomi S Bhattacharya
Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.
Genomics 1991;11(1):199-205.
1991: S Bhattacharya; D Lester; J Keen; R Bashir; B Lauffart; Chris F Inglehearn; M Jay; A C Bird
Retinitis pigmentosa and mutations in rhodopsin.
Lancet 1991;337(8734):185.
1991: J Keen; D Lester; Chris F Inglehearn; A Curtis; Shomi Bhattacharya
Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.
Trends in genetics : TIG 1991;7(1):5.
1991: Chris F Inglehearn; Rumaisa Bashir; D H Lester; MR Jay; Alan C Bird; Shomi S Bhattacharya
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
American journal of human genetics 1991;48(1):26-30.
1990: G Jane Farrar; Paul F Kenna; R Redmond; P McWilliam; Daniel G Bradley; Marian Humphries; E M Sharp; Chris F Inglehearn; R Bashir; M Jay
Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.
American journal of human genetics 1990;47(6):941-5.
1990: D H Lester; Chris F Inglehearn; Rumaisa Bashir; H Ackford; L Esakowitz; MR Jay; Alan C Bird; A F Wright; Surinder S Papiha; Shomi S Bhattacharya
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
American journal of human genetics 1990;47(3):536-41.
1990: Chris F Inglehearn; H J Cooke
A VNTR immediately adjacent to the human pseudoautosomal telomere.
Nucleic acids research 1990;18(3):471-6.
1990: R Bellamy; Chris F Inglehearn; D Lester; Alison J Hardcastle; Shomi Bhattacharya
Better fingerprinting with PCR.
Trends in genetics : TIG 1990;6(2):32.
1990: Chris F Inglehearn; MR Jay; D H Lester; Rumaisa Bashir; B Jay; Alan C Bird; A F Wright; H J Evans; Surinder S Papiha; Shomi S Bhattacharya
No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity.
Genomics 1990;6(1):168-73.
1990: Chris F Inglehearn; Surinder S Papiha; MR Jay; A F Wright; A T Moore; Shomi S Bhattacharya
Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus.
Journal of medical genetics 1990;27(1):14-6.
1989: S Lindsay; MR Jay; D J Bower; G Adam; Chris F Inglehearn; P G Sealey; Surinder S Papiha; Shomi S Bhattacharya
X-linked retinitis pigmentosa: a molecular genetic approach to isolating the defective genes.
Progress in clinical and biological research 1989;314():83-97.