Associated Papers
Global analysis of suppressor mutations that rescue human genetic defects.
Ünlü B et al.
Genome Medicine, 2023
37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants
Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel.
Birch DG et al.
Translational Vision Science & Technology, 2023
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
Georgiou M et al.
Orphanet Journal of Rare Diseases, 2021
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
The background puzzle: how identical mutations in the same gene lead to different disease symptoms.
Kammenga JE
The Febs Journal, 2017
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
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Estrada-Cuzcano A et al.
Human Molecular Genetics, 2012
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
Fahim AT et al.
Plos One, 2011
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F et al.
Clinical Genetics, 2008
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