Associated Papers
The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.
Pittman M et al.
Genome Research, 2026
41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9
Association between idiopathic hypersomnia and a genetic variant in the PER3 gene.
Cherasse Y et al.
Journal of Sleep Research, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
Maksemous N et al.
Molecular Neurobiology, 2023
36786913 (PubMed )
Supplement: 12035_2023_3255_MOESM1_ESM.xlsx › Supplementary_Table_1
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.
Baez-Nieto D et al.
Brain : a Journal of Neurology, 2022
Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine.
Maksemous N et al.
Frontiers in Molecular Neuroscience, 2022
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