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Hereditary eye disease

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  • Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

    • Vincent Marion,
    • Fanny Stutzmann,
    • Marion Gérard,
    • Charlie De Melo,
    • Elise Schaefer,
    • Aurélie Claussmann,
    • Sophie Hellé,
    • Valérie Delague,
    • Eric Souied,
    • Catherine Barrey,
    • Alain Verloes,
    • Corinne Stoetzel,
    • Hélène Dollfus
    J. Med. Genet.  2012;49:317-321  doi:10.1136/jmedgenet-2012-100737

  • Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

    • Vincent Marion,
    • Fanny Stutzmann,
    • Marion Gérard,
    • Charlie De Melo,
    • Elise Schaefer,
    • Aurélie Claussmann,
    • Sophie Hellé,
    • Valérie Delague,
    • Eric Souied,
    • Catherine Barrey,
    • Alain Verloes,
    • Corinne Stoetzel,
    • Hélène Dollfus
    J. Med. Genet.  2012;  doi:10.1136/jmedgenet-2012-100737

  • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

    • Polona Le Quesne Stabej,
    • Zubin Saihan,
    • Nell Rangesh,
    • Heather B Steele-Stallard,
    • John Ambrose,
    • Alison Coffey,
    • Jenny Emmerson,
    • Elene Haralambous,
    • Yasmin Hughes,
    • Karen P Steel,
    • Linda M Luxon,
    • Andrew R Webster,
    • Maria Bitner-Glindzicz
    J. Med. Genet.  2012;49:27-36  doi:10.1136/jmedgenet-2011-100468

  • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

    • Polona Le Quesne Stabej,
    • Zubin Saihan,
    • Nell Rangesh,
    • Heather B Steele-Stallard,
    • John Ambrose,
    • Alison Coffey,
    • Jenny Emmerson,
    • Elene Haralambous,
    • Yasmin Hughes,
    • Karen P Steel,
    • Linda M Luxon,
    • Andrew R Webster,
    • Maria Bitner-Glindzicz
    J. Med. Genet.  2011;  doi:10.1136/jmedgenet-2011-100468

  • Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

    • Julie M Schultz,
    • Rashid Bhatti,
    • Anne C Madeo,
    • Amy Turriff,
    • Julie A Muskett,
    • Christopher K Zalewski,
    • Kelly A King,
    • Zubair M Ahmed,
    • Saima Riazuddin,
    • Nazir Ahmad,
    • Zawar Hussain,
    • Muhammad Qasim,
    • Shaheen N Kahn,
    • Meira R Meltzer,
    • Xue Z Liu,
    • Murali Munisamy,
    • Manju Ghosh,
    • Heidi L Rehm,
    • Ekaterini T Tsilou,
    • Andrew J Griffith,
    • Wadih M Zein,
    • Carmen C Brewer,
    • Sheikh Riazuddin,
    • Thomas B Friedman
    J. Med. Genet.  2011;48:767-775  doi:10.1136/jmedgenet-2011-100262

  • Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

    • Julie M Schultz,
    • Rashid Bhatti,
    • Anne C Madeo,
    • Amy Turriff,
    • Julie A Muskett,
    • Christopher K Zalewski,
    • Kelly A King,
    • Zubair M Ahmed,
    • Saima Riazuddin,
    • Nazir Ahmad,
    • Zawar Hussain,
    • Muhammad Qasim,
    • Shaheen N Kahn,
    • Meira R Meltzer,
    • Xue Z Liu,
    • Murali Munisamy,
    • Manju Ghosh,
    • Heidi L Rehm,
    • Ekaterini T Tsilou,
    • Andrew J Griffith,
    • Wadih M Zein,
    • Carmen C Brewer,
    • Sheikh Riazuddin,
    • Thomas B Friedman
    J. Med. Genet.  2011;  doi:10.1136/jmedgenet-2011-100262

  • Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

    • David A Simpson,
    • Graeme R Clark,
    • Sharon Alexander,
    • Giuliana Silvestri,
    • Colin E Willoughby
    J. Med. Genet.  2011;48:145-151  doi:10.1136/jmg.2010.083568

  • Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

    • J F Papon,
    • I Perrault,
    • A Coste,
    • B Louis,
    • X Gérard,
    • S Hanein,
    • L Fares-Taie,
    • S Gerber,
    • S Defoort-Dhellemmes,
    • A M Vojtek,
    • J Kaplan,
    • J M Rozet,
    • E Escudier
    J. Med. Genet.  2010;47:829-834  doi:10.1136/jmg.2010.077883

  • Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

    • E Ostergaard,
    • M Batbayli,
    • M Duno,
    • K Vilhelmsen,
    • T Rosenberg
    J. Med. Genet.  2010;47:665-669  doi:10.1136/jmg.2009.069120
    Open Access Article

  • Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans

    • M J Nevet,
    • S A Shalev,
    • J Zlotogora,
    • N Mazzawi,
    • T Ben-Yosef
    J. Med. Genet.  2010;47:533-537  doi:10.1136/jmg.2009.073619
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