1 |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
62
57
5
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Lee CS...Kim EK
|
26720466 |
2015 |
2 |
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
62
57
5
|
Burgess R...Black GC
|
18179881 |
2008 |
3 |
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
62
24
5
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Wivestad Jansson R...Wittstrom E
|
26333019 |
2016 |
4 |
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
62
24
5
|
Boon CJ...den Hollander AI
|
19375515 |
2009 |
5 |
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
24
5
|
Zhao L...Zhang K
|
22422030 |
2012 |
6 |
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
24
5
|
Kinnick TR...Stone EM
|
21273940 |
2011 |
7 |
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
62
5
|
Nowomiejska K...Zrenner E
|
34327816 |
2022 |
8 |
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
62
5
|
Hufendiek K...Kellner U
|
33302512 |
2020 |
9 |
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
62
5
|
Shah M...Downes SM
|
32239196 |
2020 |
10 |
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
62
5
|
Luo J...Liu X
|
30593719 |
2019 |
11 |
IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.
62
5
|
Deak GG...Ritter M
|
29215532 |
2019 |
12 |
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.
62
5
|
Guziewicz KE...Aguirre GD
|
29507198 |
2018 |
13 |
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
62
5
|
Gao T...Zhao M
|
30498755 |
2018 |
14 |
Best Vitelliform Macular Dystrophy.
62
5
|
Tsang SH...Sharma T
|
30578502 |
2018 |
15 |
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
62
5
|
Tian L...Li Y
|
28687848 |
2017 |
16 |
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
62
5
|
Khan KN...Michaelides M
|
27764019 |
2017 |
17 |
Childhood-onset autosomal recessive bestrophinopathy.
62
5
|
Borman AD...Moore AT
|
21825197 |
2011 |
18 |
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
62
5
|
Davidson AE...Manson FD
|
21330666 |
2011 |
19 |
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
5
|
Maggi J...Berger W
|
33546218 |
2021 |
20 |
Patient-specific mutations impair BESTROPHIN1's essential role in mediating Ca2+-dependent Cl- currents in human RPE.
5
|
Li Y...Yang T
|
29063836 |
2017 |
21 |
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
5
|
Motta FL...Sallum JMF
|
28819299 |
2017 |
22 |
Bestrophin 1 and retinal disease.
62
24
|
Johnson AA...Marmorstein AD
|
28153808 |
2017 |
23 |
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
5
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Riera M...Pomares E
|
28181551 |
2017 |
24 |
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
5
|
Vincent A...Heon E
|
27258436 |
2016 |
25 |
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
62
24
|
Boon CJ...van Schooneveld MJ
|
23290749 |
2013 |
26 |
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
5
|
Corton M...Ayuso C
|
23379534 |
2013 |
27 |
Phenotype and genotype of patients with autosomal recessive bestrophinopathy.
62
24
|
MacDonald IM...Ayyagari R
|
21809908 |
2012 |
28 |
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
5
|
Wittstrom E...Andreasson S
|
21192766 |
2011 |
29 |
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
62
24
|
Davidson AE...Manson FD
|
19853238 |
2009 |
30 |
Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.
5
|
Milenkovic VM...Weber BH
|
17110374 |
2007 |
31 |
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
5
|
Schatz P...Dahl N
|
16754206 |
2006 |
32 |
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
5
|
Lotery AJ...Stone EM
|
10798642 |
2000 |
33 |
Cortical image density determines the probability of target discovery during active search.
5
|
Motter BC...Holsapple JW
|
10788642 |
2000 |
34 |
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
24
|
Stenson PD...Cooper DN
|
32596782 |
2020 |
35 |
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION.
24
|
Khan KN...Michaelides M
|
28225368 |
2018 |
36 |
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
24
|
Van Schil K...De Baere E
|
28749477 |
2018 |
37 |
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
24
|
Jonsson H...Stefansson K
|
28959963 |
2017 |
38 |
Validation of copy number variation analysis for next-generation sequencing diagnostics.
24
|
Ellingford JM...Black GC
|
28378820 |
2017 |
39 |
Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States.
24
|
Dalvin LA...Marmorstein AD
|
27120116 |
2017 |
40 |
Timing, rates and spectra of human germline mutation.
24
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
41 |
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.
24
|
Richards S...ACMG Laboratory Quality Assurance Committee
|
25741868 |
2015 |
42 |
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
24
|
Bitner H...Banin E
|
21467170 |
2011 |
43 |
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
24
|
Querques G...Souied EH
|
21436265 |
2011 |
44 |
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.
24
|
Iannaccone A...Stone EM
|
21320969 |
2011 |
45 |
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
24
|
Querques G...Souied EH
|
20057903 |
2009 |
46 |
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.
24
|
Testa F...Simonelli F
|
18703557 |
2008 |
47 |
High-definition optical coherence tomography features in vitelliform macular dystrophy.
24
|
Querques G...Souied EH
|
18619572 |
2008 |
48 |
Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.
24
|
Atchaneeyasakul LO...Limwongse C
|
18766995 |
2008 |
49 |
The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains.
24
|
Yu K...Hartzell HC
|
18509027 |
2008 |
50 |
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
24
|
Hartzell HC...Chien LT
|
18391176 |
2008 |