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References from Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1038/gim.2015.30
10.1038/gim.2015.30 · External reference
Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the Prospective Registry of Multiplex Testing
10.1200/jco.2016.68.4316 · 2016 · External reference
10.1093/nar/gky1016
10.1093/nar/gky1016 · External reference
10.1093/bioinformatics/btv195
10.1093/bioinformatics/btv195 · External reference
10.1016/j.ophtha.2008.12.019
10.1016/j.ophtha.2008.12.019 · External reference
10.1002/jgm.3721
10.1002/jgm.3721 · External reference
10.1016/j.preteyeres.2015.12.002
10.1016/j.preteyeres.2015.12.002 · External reference
10.1016/j.ajhg.2017.07.014
10.1016/j.ajhg.2017.07.014 · External reference
10.1038/s41586-021-03819-2
10.1038/s41586-021-03819-2 · External reference
10.1126/science.abj8754
10.1126/science.abj8754 · External reference
10.1056/nejmcibr2113027
10.1056/nejmcibr2113027 · External reference
10.1126/science.adg7492
10.1126/science.adg7492 · External reference
AI-human hybrid workflow enhances teleophthalmology for the detection of diabetic retinopathy. Ophthalmol
2023 · External reference
10.1016/j.ophtha.2020.04.008
10.1016/j.ophtha.2020.04.008 · External reference
10.1016/j.preteyeres.2008.01.002
10.1016/j.preteyeres.2008.01.002 · External reference
10.1096/fj.201901888r
10.1096/fj.201901888r · External reference
PRPH2-related retinal diseases: Broadening the clinical spectrum and describing a new mutation
10.3390/genes11070773 · 2020 · External reference
10.1093/hmg/ddw408
10.1093/hmg/ddw408 · External reference
10.1093/hmg/ddy240
10.1093/hmg/ddy240 · External reference
Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
10.1007/s10633-022-09916-5 · 2023 · External reference
10.1093/nar/gkt1113
10.1093/nar/gkt1113 · External reference
10.1001/archopht.117.10.1373
10.1001/archopht.117.10.1373 · External reference
PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation
10.1177/112067211002000413 · 2010 · External reference
10.1002/humu.24065
10.1002/humu.24065 · External reference
Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147
10.1002/(sici)1098-1004(1998)12:1<70::aid-humu11>3.0.co;2-m · 1998 · External reference
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
10.1038/s41598-018-22096-0 · 2018 · External reference
10.1016/s0161-6420(94)31377-7
10.1016/s0161-6420(94)31377-7 · External reference
10.1038/ng0393-213
10.1038/ng0393-213 · External reference
Long-range PCR-based NGS applications to diagnose Mendelian retinal diseases
10.3390/ijms22041508 · 2021 · External reference
Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy
10.1016/s0161-6420(97)30320-0 · 1997 · External reference
10.1136/jmg.34.8.620
10.1136/jmg.34.8.620 · External reference
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies
2016 · External reference
10.1001/archopht.1996.01100130068011
10.1001/archopht.1996.01100130068011 · External reference
10.1097/00006982-199616050-00007
10.1097/00006982-199616050-00007 · External reference
10.1021/bi901622w
10.1021/bi901622w · External reference
10.1093/hmg/ddu345
10.1093/hmg/ddu345 · External reference
10.1016/j.ophtha.2017.04.008
10.1016/j.ophtha.2017.04.008 · External reference
10.1167/iovs.05-1443
10.1167/iovs.05-1443 · External reference
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
2018 · External reference
10.1136/bjophthalmol-2015-306844
10.1136/bjophthalmol-2015-306844 · External reference
10.1038/ng0393-202
10.1038/ng0393-202 · External reference
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population
2007 · External reference
10.1002/(sici)1098-1004(1997)10:4<301::aid-humu6>3.0.co;2-j
10.1002/(sici)1098-1004(1997)10:4<301::aid-humu6>3.0.co;2-j · External reference
Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)
10.1016/s0002-9394(14)72913-7 · 1994 · External reference
Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene
10.1177/112067210701700624 · 2007 · External reference
10.1155/2015/819760
10.1155/2015/819760 · External reference
10.1093/hmg/ddw193
10.1093/hmg/ddw193 · External reference
10.1136/bjo.2007.115659
10.1136/bjo.2007.115659 · External reference
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
10.1186/1471-2350-13-67 · 2012 · External reference
10.1167/iovs.14-16343
10.1167/iovs.14-16343 · External reference
10.1038/354478a0
10.1038/354478a0 · External reference
10.1136/bjo.78.11.831
10.1136/bjo.78.11.831 · External reference
Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome
10.1016/j.visres.2012.07.011 · 2012 · External reference
10.1167/iovs.13-12605
10.1167/iovs.13-12605 · External reference
10.1136/jmg.2007.056416
10.1136/jmg.2007.056416 · External reference
10.1167/iovs.14-15458
10.1167/iovs.14-15458 · External reference
Long-term efficacy and safety of anti-VEGF therapy in retinitis pigmentosa: a case report
10.1186/s12886-018-0914-z · 2018 · External reference
Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa
10.1177/112067219800800208 · 1998 · External reference
Peripherin/rds influences membrane vesicle morphology
2000 · External reference
10.1002/1098-1004(2001)17:1<42::aid-humu5>3.0.co;2-k
10.1002/1098-1004(2001)17:1<42::aid-humu5>3.0.co;2-k · External reference
W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa
10.1002/1098-1004(200006)15:6<583::aid-humu24>3.0.co;2-x · 2000 · External reference
Targeted next-generation sequencing improves the diagnosis of autosomal dominant retinitis pigmentosa in Spanish patients. Invest
2015 · External reference
10.1167/iovs.18-23854
10.1167/iovs.18-23854 · External reference
10.1167/iovs.15-17104
10.1167/iovs.15-17104 · External reference
10.1076/opge.19.1.27.2179
10.1076/opge.19.1.27.2179 · External reference
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families
10.1002/1098-1004(2001)17:1<80::aid-humu27>3.0.co;2-g · 2001 · External reference
10.1007/bf00216463
10.1007/bf00216463 · External reference
10.1016/j.ajo.2014.10.033
10.1016/j.ajo.2014.10.033 · External reference
10.1038/354480a0
10.1038/354480a0 · External reference
10.1006/geno.1994.1142
10.1006/geno.1994.1142 · External reference
Development of a genotype assay for age-related macular degeneration: The EYE-RISK consortium
10.1016/j.ophtha.2020.07.037 · 2021 · External reference
10.1021/bi972036i
10.1021/bi972036i · External reference
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa
10.1038/srep39652 · 2017 · External reference
10.1001/archophthalmol.2009.112
10.1001/archophthalmol.2009.112 · External reference
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa
2012 · External reference
10.1186/s13073-022-01120-z
10.1186/s13073-022-01120-z · External reference
10.1002/humu.23158
10.1002/humu.23158 · External reference
10.1126/sciadv.add3677
10.1126/sciadv.add3677 · External reference
10.1016/j.preteyeres.2009.05.003
10.1016/j.preteyeres.2009.05.003 · External reference
10.7554/elife.72817
10.7554/elife.72817 · External reference
Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS
10.1111/febs.12055 · 2013 · External reference
10.1093/nar/gkr363
10.1093/nar/gkr363 · External reference
10.1073/pnas.93.24.13726
10.1073/pnas.93.24.13726 · External reference
10.1074/jbc.m011710200
10.1074/jbc.m011710200 · External reference
Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene
10.1016/s0002-9394(14)70627-0 · 1996 · External reference
10.1016/j.ajo.2008.09.007
10.1016/j.ajo.2008.09.007 · External reference
10.1167/iovs.14-14359
10.1167/iovs.14-14359 · External reference
10.1167/iovs.14-14936
10.1167/iovs.14-14936 · External reference
10.1136/bjo.2004.062695
10.1136/bjo.2004.062695 · External reference
Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation
10.1097/00006982-199515010-00013 · 1995 · External reference
10.1097/iae.0b013e31824b32e4
10.1097/iae.0b013e31824b32e4 · External reference
Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
10.1016/s0161-6420(94)31156-0 · 1994 · External reference
10.1021/bi980173p
10.1021/bi980173p · External reference
10.1021/bi061999r
10.1021/bi061999r · External reference
10.1142/9789813207813_0015
10.1142/9789813207813_0015 · External reference
10.1016/j.tig.2018.03.005
10.1016/j.tig.2018.03.005 · External reference
Data leakage in deep learning for Alzheimer’s disease diagnosis: A scoping review of methodological rigor and performance inflation
10.3390/diagnostics15182348 · 2025 · External reference
10.1093/hmg/ddh211
10.1093/hmg/ddh211 · External reference
10.1021/bi960259n
10.1021/bi960259n · External reference
10.1126/science.7761829
10.1126/science.7761829 · External reference
ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims
10.7554/elife.89444.3 · 2023 · External reference
10.1242/jcs.126888
10.1242/jcs.126888 · External reference
10.1038/nature04398
10.1038/nature04398 · External reference
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
10.1186/s13023-019-1275-2 · 2019 · External reference
10.1093/hmg/9.14.2095
10.1093/hmg/9.14.2095 · External reference
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies
10.1002/prot.24465 · 2014 · External reference
Unresolved reference
External reference
10.1002/ajmg.c.31825
10.1002/ajmg.c.31825 · External reference
10.1056/nejmsr1809937
10.1056/nejmsr1809937 · External reference
10.1002/pro.3280
10.1002/pro.3280 · External reference
10.1093/nar/gkh381
10.1093/nar/gkh381 · External reference
Welcome to the tidyverse
10.21105/joss.01686 · 2019 · External reference
