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Human Mutation|September 22, 2018
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndromeCristina Fortuno, Paul A James, Amanda B SpurdleHuman Mutation|September 28, 2018
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathyJeffrey Schubert, Muhammad Tariq, Gabrielle Geddes, et al.Human Mutation|September 28, 2018
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiencyChi-Ren Tsai, Hsiu-Fen Lee, Ching-Shiang Chi, et al.Human Mutation|April 27, 2019
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnosticsMattia Bosio, Oliver Drechsel, Rubayte Rahman, et al.Human Mutation|April 30, 2019
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndromeLusine Nazaryan-Petersen, Inês R Oliveira, Mana M Mehrjouy, et al.Human Mutation|September 26, 2018
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosisBenedetta Ruzzenente, Zahra Assouline, Giulia Barcia, et al.Human Mutation|October 11, 2018
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiologyLiliana C Patiño, Isabelle Beau, Adrien Morel, et al.Human Mutation|October 13, 2018
Genetic database software as medical devicesAdrian Thorogood, Seydina B Touré, Johan Ordish, et al.Human Mutation|October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approachSteven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.Human Mutation|October 13, 2018
ClinVar at five years: Delivering on the promiseMelissa J Landrum, Brandi L KattmanPageof 583