Associated Papers
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Zhong FL et al.
Cell, 2016
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