Associated Papers
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat4
The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.
Rozpędek-Kamińska W et al.
International Journal of Molecular Sciences, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_13
Genetics of primary open angle glaucoma.
Takamoto M et al.
Japanese Journal of Ophthalmology, 2014
Evaluation of NTF4 as a causative gene for primary open-angle glaucoma.
Chen LJ et al.
Molecular Vision, 2012
Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an indian population.
Rao KN et al.
Investigative Ophthalmology & Visual Science, 2010
Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population.
Vithana EN et al.
Molecular Vision, 2010
No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.
Liu Y et al.
American Journal of Human Genetics, 2010
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
Pasutto F et al.
American Journal of Human Genetics, 2009
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