Associated Papers
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY
IMPACT OF ABCC8 AND TRPM4 GENETIC VARIATION IN CENTRAL NERVOUS SYSTEM DYSFUNCTION ASSOCIATED WITH PEDIATRIC SEPSIS.
Kernan KF et al.
Shock (augusta, Ga.), 2024
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Pannone L et al.
Circulation. Arrhythmia and Electrophysiology, 2024
38426305 (PubMed )
Supplement: circae_circae-2023-012374_supp1.pdf
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
35932045 (PubMed )
Supplement: 40246_2022_402_MOESM6_ESM.xlsx › Additional_File_6
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S11-final_16052022.xlsx › Table_S11A
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
Charfeddine C et al.
Plos One, 2021
34669720 (PubMed )
Supplement: pone.0258777.s002.xlsx › Feuil1
Inherited Cardiac Arrhythmia Syndromes: Focus on Molecular Mechanisms Underlying TRPM4 Channelopathies.
Amarouch MY et al.
Cardiovascular Therapeutics, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3B
TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome.
Janin A et al.
European Journal of Medical Genetics, 2019
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Saleheen D et al.
Nature, 2017
28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.
Neubauer J et al.
European Journal of Human Genetics : Ejhg, 2017
Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
Rueda M et al.
Frontiers in Cardiovascular Medicine, 2017
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