Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Kingsmore SF et al.
American Journal of Human Genetics, 2019
Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.
Moutaoufik MT et al.
Iscience, 2019
31536960 (PubMed )
Supplement: mmc5.xlsx › PTM-Phosphosites
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S11_CC-2_coding_SNVs
GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population.
Wu Q et al.
Forensic Science International, 2017
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.
Jamsheer A et al.
Gene, 2014
Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Campuzano O et al.
European Journal of Medical Genetics, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
Select a paper to view details