Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM et al.
Science Advances, 2020
32637605 (PubMed )
Supplement: aba3231_Table_S1.xlsx › Table_S1
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
Bouzia Z et al.
American Journal of Ophthalmology, 2020
The genetic profile of Leber congenital amaurosis in an Australian cohort.
Thompson JA et al.
Molecular Genetics & Genomic Medicine, 2017
29178642 (PubMed )
Supplement: MGG3-5-652-s001.pdf
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.
Verma A et al.
Plos One, 2013
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family.
Rezaie T et al.
Ophthalmic Genetics, 2007
Variants in the GH-IGF axis confer susceptibility to lung cancer.
Rudd MF et al.
Genome Research, 2006
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC et al.
Journal of Medical Genetics, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2005
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR et al.
Ophthalmic Genetics, 2000
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