Literature DB >> 24123322

Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.

Frans P M Cremers, Johan T den Dunnen, Muhammad Ajmal, Alamdar Hussain, Markus N Preising, Stephen P Daiger, Raheel Qamar.   

Abstract

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Year:  2014        PMID： 24123322      PMCID： PMC4115649          DOI： 10.1002/humu.22458

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  21 in total

1.  Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

2.  Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Authors:  Martin Wildeman; Ernest van Ophuizen; Johan T den Dunnen; Peter E M Taschner
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

3.  PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

Authors:  Inga Ebermann; Jennifer B Phillips; Max C Liebau; Robert K Koenekoop; Bernhard Schermer; Irma Lopez; Ellen Schäfer; Anne-Francoise Roux; Claudia Dafinger; Antje Bernd; Eberhart Zrenner; Mireille Claustres; Bernardo Blanco; Gudrun Nürnberg; Peter Nürnberg; Rebecca Ruland; Monte Westerfield; Thomas Benzing; Hanno J Bolz
Journal:  J Clin Invest       Date:  2010-05-03       Impact factor: 14.808

Review 4.  Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.

Authors:  Anneke I den Hollander; Aaron Black; Jean Bennett; Frans P M Cremers
Journal:  J Clin Invest       Date:  2010-09-01       Impact factor: 14.808

5.  Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

Authors:  K Kajiwara; E L Berson; T P Dryja
Journal:  Science       Date:  1994-06-10       Impact factor: 47.728

6.  Population genetic studies of retinitis pigmentosa.

Authors:  J A Boughman; P M Conneally; W E Nance
Journal:  Am J Hum Genet       Date:  1980-03       Impact factor: 11.025

7.  Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Authors:  Philip L Beales; Jose L Badano; Alison J Ross; Stephen J Ansley; Bethan E Hoskins; Brigitta Kirsten; Charles A Mein; Philippe Froguel; Peter J Scambler; Richard Alan Lewis; James R Lupski; Nicholas Katsanis
Journal:  Am J Hum Genet       Date:  2003-04-03       Impact factor: 11.025

8.  Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

Authors:  Jose L Badano; Carmen C Leitch; Stephen J Ansley; Helen May-Simera; Shaneka Lawson; Richard Alan Lewis; Philip L Beales; Harry C Dietz; Shannon Fisher; Nicholas Katsanis
Journal:  Nature       Date:  2005-12-04       Impact factor: 49.962

9.  Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Authors:  Frauke Coppieters; Bram De Wilde; Steve Lefever; Ellen De Meester; Nina De Rocker; Caroline Van Cauwenbergh; Filip Pattyn; Françoise Meire; Bart P Leroy; Jan Hellemans; Jo Vandesompele; Elfride De Baere
Journal:  Genet Med       Date:  2012-01-26       Impact factor: 8.822

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

Authors:  Hemant Khanna; Erica E Davis; Carlos A Murga-Zamalloa; Alejandro Estrada-Cuzcano; Irma Lopez; Anneke I den Hollander; Marijke N Zonneveld; Mohammad I Othman; Naushin Waseem; Christina F Chakarova; Cecilia Maubaret; Anna Diaz-Font; Ian MacDonald; Donna M Muzny; David A Wheeler; Margaret Morgan; Lora R Lewis; Clare V Logan; Perciliz L Tan; Michael A Beer; Chris F Inglehearn; Richard A Lewis; Samuel G Jacobson; Carsten Bergmann; Philip L Beales; Tania Attié-Bitach; Colin A Johnson; Edgar A Otto; Shomi S Bhattacharya; Friedhelm Hildebrandt; Richard A Gibbs; Robert K Koenekoop; Anand Swaroop; Nicholas Katsanis
Journal:  Nat Genet       Date:  2009-05-10       Impact factor: 38.330
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  3 in total

1.  Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.

Authors:  Mor Hanany; Gilad Allon; Adva Kimchi; Anat Blumenfeld; Hadas Newman; Eran Pras; Ohad Wormser; Ohad S Birk; Libe Gradstein; Eyal Banin; Tamar Ben-Yosef; Dror Sharon
Journal:  Eur J Hum Genet       Date:  2018-04-30       Impact factor: 4.246

Review 2.  Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-10       Impact factor: 6.915

Review 3.  Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium.

Authors:  Debra A Thompson; Robin R Ali; Eyal Banin; Kari E Branham; John G Flannery; David M Gamm; William W Hauswirth; John R Heckenlively; Alessandro Iannaccone; K Thiran Jayasundera; Naheed W Khan; Robert S Molday; Mark E Pennesi; Thomas A Reh; Richard G Weleber; David N Zacks
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-02-09       Impact factor: 4.799
  3 in total

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