2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
158 citations
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January 2015 in “Artificial Intelligence in Medicine” This study found that DrugNet, a network-based prioritization method, effectively improves drug repositioning tasks, achieving high performance in validation tests and clinical trial comparisons.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
9 citations
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February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.