Concepedia

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients

Rosario López‐Rodríguez, Esther Lantero, Fiona Blanco‐Kelly, Almudena Ávila‐Fernández, Inmaculada Martin Merida, Marta Del Pozo‐Valero, Irene Perea‐Romero, Olga Zurita, Belén Jimenez‐Rolando, Saoud Tahsin Swafiri,

Experimental Eye Research · 2021 · 31 citations · 42 references

DOI

Concepts

References

42

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

Sumin Gu, Debra A. Thompson, C.R. Srikumari et al. · Nature Genetics · 1997 · 666 citations

, , +10

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis

Hiroyuki Morimura, Gerald A. Fishman, Sandeep Grover et al. · Proceedings of the National Academy of Sciences · 1998 · 489 citations

, , +15

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Sylvain Hanein, Isabelle Perrault, S. Gerber et al. · Human Mutation · 2004 · 349 citations · Full text

, , +16

Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture

Edwin M. Stone · American Journal of Ophthalmology · 2007 · 307 citations · Full text

, , +14