Literature DB >> 32034100

Understanding the genetic architecture of human retinal degenerations.

J Fielding Hejtmancik1, Stephen P Daiger2.   

Abstract

Entities:  

Year:  2020        PMID： 32034100      PMCID： PMC7049104          DOI： 10.1073/pnas.1922925117

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  12 in total

1.  THE LESSONS OF RARE MALADIES: ANNUAL ORATION BEFORE THE MEDICAL SOCIETY OF LONDON BY SIR ARCHIBALD GARROD.

Authors: 
Journal:  Br Med J       Date:  1928-05-26

Review 2.  Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion.

Authors:  J D Terwilliger; S Zöllner; M Laan; S Pääbo
Journal:  Hum Hered       Date:  1998 May-Jun       Impact factor: 0.444

Review 3.  The molecular basis of human retinal and vitreoretinal diseases.

Authors:  Wolfgang Berger; Barbara Kloeckener-Gruissem; John Neidhardt
Journal:  Prog Retin Eye Res       Date:  2010-03-31       Impact factor: 21.198

4.  Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

Authors:  Naisha Shah; Ying-Chen Claire Hou; Hung-Chun Yu; Rachana Sainger; C Thomas Caskey; J Craig Venter; Amalio Telenti
Journal:  Am J Hum Genet       Date:  2018-04-05       Impact factor: 11.025

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.  Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Authors:  N Katsanis; S J Ansley; J L Badano; E R Eichers; R A Lewis; B E Hoskins; P J Scambler; W S Davidson; P L Beales; J R Lupski
Journal:  Science       Date:  2001-09-21       Impact factor: 47.728

7.  Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Authors:  Dror Sharon; Michael A Sandberg; Rafael C Caruso; Eliot L Berson; Thaddeus P Dryja
Journal:  Arch Ophthalmol       Date:  2003-09

8.  Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.

Authors:  Mor Hanany; Carlo Rivolta; Dror Sharon
Journal:  Proc Natl Acad Sci U S A       Date:  2020-01-21       Impact factor: 11.205

Review 9.  Deciphering retinal diseases through the generation of three dimensional stem cell-derived organoids: Concise Review.

Authors:  Ana Artero Castro; Francisco Javier Rodríguez Jimenez; Pavla Jendelova; Slaven Erceg
Journal:  Stem Cells       Date:  2019-10-31       Impact factor: 6.277

Review 10.  Gene Therapy in Retinal Dystrophies.

Authors:  Lucia Ziccardi; Viviana Cordeddu; Lucia Gaddini; Andrea Matteucci; Mariacristina Parravano; Fiorella Malchiodi-Albedi; Monica Varano
Journal:  Int J Mol Sci       Date:  2019-11-14       Impact factor: 5.923
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  1 in total

1.  Precision genome editing in the eye.

Authors:  Susie Suh; Elliot H Choi; Aditya Raguram; David R Liu; Krzysztof Palczewski
Journal:  Proc Natl Acad Sci U S A       Date:  2022-09-19       Impact factor: 12.779
  1 in total

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