Associated Papers
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.
Farooqui SZ et al.
Ophthalmic Genetics, 2025
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L et al.
Ophthalmic Genetics, 2021
Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes.
Moinuddin O et al.
Ophthalmology. Retina, 2021
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.
Lu Q et al.
Annals of Translational Medicine, 2020
MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.
Cai W et al.
Bmc Genomics, 2018
30075702 (PubMed )
Supplement: 12864_2018_4958_MOESM4_ESM.xlsx › Supplementary_Table_4
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM9_ESM.xlsx › YT
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Li YY et al.
Nature Communications, 2017
28098136 (PubMed )
Supplement: ncomms14121-s6.xlsx › Primary_Recurrences_or_mets
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F et al.
Human Mutation, 2010
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