Associated Papers
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
Nicastro M et al.
American Journal of Human Genetics, 2025
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.
Nicastro M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Young WJ et al.
Nature Communications, 2022
36050321 (PubMed )
Supplement: 41467_2022_32821_MOESM4_ESM.xlsx › Data_12a
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.
Li J et al.
Gut, 2020
31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › All_Somatic_mutations__CRC_
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1
Select a paper to view details