Netrank: network-based approach for biomarker discovery. BMC bioinformatics, (24)1BioMed Central, London, Jul 29, 2023. [PUMA: topic_lifescience Algorithms, Area Biomedical Curve, Disease FIS_scads Gene Humans, Library Progression, Research, Under]
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants. Human Genetics and Genomics Advances, (3)4:100131, 2022. [PUMA: topic_lifescience DEE, Diseases KCNC2, Network, Undiagnosed and biology, developmental disease dynamics electrophysiology, encephalopathy, epileptic interpretation, molecular personalized rare simulations, structural variant variant,] URL
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. Am. J. Hum. Genet., (108)10:1946--1963, Elsevier BV, October 2021. [PUMA: Diseases Network; UDN; Undiagnosed clinical digenic disease disease; learning; machine oligogenic prediction; rare topic_lifescience]