Literature DB >> 23143460

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

Susan M Downes, Emily Packham, Treena Cranston, Penny Clouston, Anneke Seller, Andrea H Németh.   

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Year:  2012        PMID： 23143460     DOI： 10.1001/archophthalmol.2012.1697

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  5 in total

1.  Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Authors:  Morag E Shanks; Susan M Downes; Richard R Copley; Stefano Lise; John Broxholme; Karl Az Hudspith; Alexandra Kwasniewska; Wayne Il Davies; Mark W Hankins; Emily R Packham; Penny Clouston; Anneke Seller; Andrew Om Wilkie; Jenny C Taylor; Jiannis Ragoussis; Andrea H Németh
Journal:  Eur J Hum Genet       Date:  2012-09-12       Impact factor: 4.246

Review 2.  An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Authors:  Saoud Al-Khuzaei; Suzanne Broadgate; Charlotte R Foster; Mital Shah; Jing Yu; Susan M Downes; Stephanie Halford
Journal:  Genes (Basel)       Date:  2021-08-13       Impact factor: 4.096

3.  Identifying mutations in Tunisian families with retinal dystrophy.

Authors:  Imen Habibi; Ahmed Chebil; Yosra Falfoul; Nathalie Allaman-Pillet; Fedra Kort; Daniel F Schorderet; Leila El Matri
Journal:  Sci Rep       Date:  2016-11-22       Impact factor: 4.379

4.  Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Authors:  Mariana Vallim Salles; Fabiana Louise Motta; Renan Martin; Rafael Filippelli-Silva; Elton Dias da Silva; Patricia Varela; Kárita Antunes Costa; John PeiWen Chiang; João Bosco Pesquero; Juliana-Maria Ferraz Sallum
Journal:  Mol Vis       Date:  2018-08-01       Impact factor: 2.367

5.  Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

Authors:  Saoud Al-Khuzaei; Karl A Z Hudspith; Suzanne Broadgate; Morag E Shanks; Penny Clouston; Andrea H Németh; Stephanie Halford; Susan M Downes
Journal:  BMC Ophthalmol       Date:  2021-04-09       Impact factor: 2.209
  5 in total

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