Associated Papers
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Bertamino M et al.
Orphanet Journal of Rare Diseases, 2025
41257790 (PubMed )
Supplement: 13023_2025_4102_MOESM1_ESM.xlsx › Combined
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA et al.
Human Mutation, 2022
Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy.
Saat H et al.
Anatolian Journal of Cardiology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Cornejo-Sanchez DM et al.
Genes, 2022
35627139 (PubMed )
Supplement: genes-13-00754-s001.zip › genes-1651239_Supplementary › Supplementary_Table_S2.xlsx › Sheet1
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.
Verschuere S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E et al.
Plos One, 2020
33206719 (PubMed )
Supplement: pone.0242534.s004.xlsx › Foglio1
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
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S et al.
Human Mutation, 2005
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