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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99747-2
- By:
- Publication type:
- Article
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Panel‐based genetic testing for inherited retinal disease screening 176 genes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1663
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- Publication type:
- Article
Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 535, doi. 10.1002/ajmg.c.31841
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- Publication type:
- Article
Ocular genetics in the genomics age.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 860, doi. 10.1002/ajmg.c.31844
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- Publication type:
- Article
Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 656, doi. 10.1002/ajmg.c.31826
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- Publication type:
- Article
RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 675, doi. 10.1002/ajmg.c.31830
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- Publication type:
- Article
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 728, doi. 10.1002/ajmg.c.31828
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- Publication type:
- Article
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 631, doi. 10.1002/ajmg.c.31822
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- Publication type:
- Article
Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63805
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- Publication type:
- Article
Delineating the expanding phenotype associated with SCAPER gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
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- Publication type:
- Article
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1601, doi. 10.1002/ajmg.a.37004
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- Publication type:
- Article
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.pgen.1007504
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- Publication type:
- Article
Unusual OCT findings in a patient with CABP4-associated cone–rod synaptic disorder.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
No strong evidence to date for an association between RIMS1 and retinal dystrophy.
- Published in:
- Documenta Ophthalmologica, 2023, v. 146, n. 1, p. 93, doi. 10.1007/s10633-022-09905-8
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- Publication type:
- Article
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01277-1
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- Publication type:
- Article
Placental infection with Chlamydia pneumoniae and intrauterine growth restriction
- Published in:
- Cardiovascular Research, 2003, v. 60, n. 1, p. 165, doi. 10.1016/S0008-6363(03)00321-3
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- Publication type:
- Article
Practical guide to genetic screening for inherited eye diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, p. 1, doi. 10.1177/2515841420954592
- By:
- Publication type:
- Article
Practical guide to genetic screening for inherited eye diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420954592
- By:
- Publication type:
- Article
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
- Published in:
- JAMA Ophthalmology, 2024, v. 142, n. 5, p. 463, doi. 10.1001/jamaophthalmol.2024.0660
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- Publication type:
- Article
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
- Published in:
- 2016
- By:
- Publication type:
- journal article
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 11, p. 1341, doi. 10.1001/jamaophthalmol.2014.2343
- By:
- Publication type:
- Article
Expansion of Ocular Phenotypic Features Associated With Mutations in ADAMTS18.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 8, p. 996, doi. 10.1001/jamaophthalmol.2014.940
- By:
- Publication type:
- Article
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65737-z
- By:
- Publication type:
- Article
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62119-3
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- Publication type:
- Article
Phenogenon: Gene to phenotype associations for rare genetic diseases.
- Published in:
- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0230587
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- Publication type:
- Article
Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 505, doi. 10.1111/cge.14573
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- Publication type:
- Article
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 191, doi. 10.1111/cge.13795
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- Publication type:
- Article
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
- Published in:
- 2021
- By:
- Publication type:
- journal article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab162
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- Publication type:
- Article
Hyperreflectivity of the outer portion of the outer nuclear layer seen on optical coherence tomography in some cases of NR2E3‐associated retinopathy.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
Discrepancies in central foveal intensity with different autofluorescence modalities in CNGB3‐associated achromatopsia and correlation with integrity of ellipsoid zone on optical coherence tomography.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.15910
- By:
- Publication type:
- Article
In silico interpretation of variants identifies novel causes of inherited eye disease in the 100 000 genomes project.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.15402
- By:
- Publication type:
- Article
Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 5, p. e392, doi. 10.1111/aos.12592
- By:
- Publication type:
- Article
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 15, p. 1261, doi. 10.3390/cells13151261
- By:
- Publication type:
- Article
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 578, doi. 10.1002/humu.23715
- By:
- Publication type:
- Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
- By:
- Publication type:
- Article
Single-base substitutions in the CHM promoter as a cause of choroideremia.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 704, doi. 10.1002/humu.23212
- By:
- Publication type:
- Article
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1622, doi. 10.1002/humu.21305
- By:
- Publication type:
- Article
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 928, doi. 10.1002/humu.9505
- By:
- Publication type:
- Article
Practical guide to genetic screening for inherited eye diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420954592
- By:
- Publication type:
- Article
Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.
- Published in:
- 2020
- By:
- Publication type:
- Editorial