Associated Papers
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Wawrocka A et al.
Molecular Vision, 2018
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Porto FBO et al.
Genes, 2017
29186038 (PubMed )
Supplement: genes-08-00355-s001.zip › Porto_et_al._Genes._SupTable2.xlsx › Sheet2
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis I et al.
Biomed Research International, 2016
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Thiadens AA et al.
Ophthalmology, 2010
[Genetic causes of hereditary cone and cone-rod dystrophies].
Kohl S
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2009
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S et al.
European Journal of Human Genetics : Ejhg, 2005
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