scadsfct > disease | PUMA

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1Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
S. Mukherjee, T. Cassini, N. Hu, T. Yang, B. Li, W. Shen, C. Moth, D. Rinker, J. Sheehan, J. Cogan and 8 other author(s). Human Genetics and Genomics Advances, 3 (4): 100131 (2022)
a month ago by @scadsfct
show all tags
developmental
variant,
disease
molecular
encephalopathy,
electrophysiology,
Diseases
simulations,
personalized
structural
rare
dynamics
interpretation,
epileptic
KCNC2,
and
DEE,
variant
Network,
Undiagnosed
biology,
developmentalvariant,diseasemolecularencephalopathy,electrophysiology,Diseasessimulations,personalizedstructuralraredynamicsinterpretation,epilepticKCNC2,andDEE,variantNetwork,Undiagnosedbiology,
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1Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
S. Mukherjee, J. Cogan, J. Newman, J. Phillips, 3rd, R. Hamid, Undiagnosed Diseases Network, J. Meiler, and J. Capra. Am. J. Hum. Genet., 108 (10): 1946--1963 (October 2021)
2 months ago by @scadsfct
show all tags
disease;
prediction;
disease
learning;
Network;
oligogenic
Diseases
clinical
digenic
rare
machine
topic_lifescience
Undiagnosed
UDN;
disease;prediction;diseaselearning;Network;oligogenicDiseasesclinicaldigenicraremachinetopic_lifescienceUndiagnosedUDN;
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