Associated Papers
Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.
Smirnov V et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
Woodbury-Smith M et al.
Journal of Medical Genetics, 2023
Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.
Hessenberger M et al.
Handbook of Experimental Pharmacology, 2023
Depleted Calcium Stores and Increased Calcium Entry in Rod Photoreceptors of the Cacna2d4 Mouse Model of Cone-Rod Dystrophy RCD4.
Vellani V et al.
International Journal of Molecular Sciences, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z et al.
Npj Genomic Medicine, 2021
34795310 (PubMed )
Supplement: 41525_2021_261_MOESM2_ESM.pdf
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S4-single_AR_alleles
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
Ba-Abbad R et al.
Ophthalmology, 2016
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
Select a paper to view details