Chris F. Inglehearn

Overview

Best Publications

• 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

  Frederique Ponchel;Carmel Toomes;Kieran Bransfield;Fong T Leong

  514
  Citations

• Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

  John Wells;John Wroblewski;Jeffrey Keen;Christopher Inglehearn

  479
  Citations

• Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

  Carmel Toomes;Helen M. Bottomley;Richard M. Jackson;Katherine V. Towns

  430
  Citations

• Null mutations in LTBP2 cause primary congenital glaucoma.

  Manir Ali;Martin McKibbin;Martin McKibbin;Adam Booth;David A. Parry

  349
  Citations

• Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.

  J Keen;D Lester;C Inglehearn;A Curtis

  345
  Citations

• Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

  Arthur B. McKie;John C. McHale;T. Jeffrey Keen;Emma E. Tarttelin

  333
  Citations

• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  332
  Citations

• Methylation-specific PCR simplifies imprinting analysis.

  Takeo Kubota;Soma Das;Susan L. Christian;Stephen B. Baylin

  327
  Citations

• A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

  Hemant Khanna;Erica E Davis;Carlos A Murga-Zamalloa;Alejandro Estrada-Cuzcano

  314
  Citations

• Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

  C. Geoffrey Woods;James Cox;Kelly Springell;Daniel J. Hampshire

  309
  Citations

• Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

  Christina F Chakarova;Matthew M Hims;Hanno Jörn Bolz;Leen Abu-Safieh

  297
  Citations

• Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

  Eranga N Vithana;Patricio Morgan;Periasamy Sundaresan;Neil D Ebenezer

  265
  Citations

• Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

  Claire E. L. Smith;James A. Poulter;Agne Antanaviciute;Jennifer Kirkham

  255
  Citations

• An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

  Gabrielle Wheway;Miriam Schmidts;Dorus A. Mans;Katarzyna Szymanska

  240
  Citations

• Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

  Anneke I den Hollander;Robert K Koenekoop;Moin D Mohamed;Moin D Mohamed;Heleen H Arts

  228
  Citations

• Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

  James A. Poulter;Manir Ali;David F. Gilmour;Aine Rice

  228
  Citations

• Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

  Carmel Toomes;Nicola J. Marchbank;David A. Mackey;Jamie E. Craig

  222
  Citations

• Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

  Robert K Koenekoop;Hui Wang;Jacek Majewski;Xia Wang

  203
  Citations

• Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

  Lori S. Sullivan;John R. Heckenlively;Sara J. Bowne;Jian Zuo

  200
  Citations

• Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.

  Adriana Buskin;Lili Zhu;Valeria Chichagova;Basudha Basu

  192
  Citations