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Human Mutation|March 17, 2022
Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyondJordi Rambla, Michael Baudis, Roberto Ariosa, et al.Human Mutation|April 19, 2022
DNAH14 variants are associated with neurodevelopmental disordersJuan Li, Yu Yuan, Chaorong Liu, et al.Human Mutation|April 21, 2022
Cas9-guided haplotyping of three truncation variants in autosomal recessive diseaseKen Natsuga, Yoshikazu Furuta, Shota Takashima, et al.Human Mutation|April 14, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disordersLia DeRoin, Marcela Cavalcante de Andrade Silva, Kristin Petras, et al.Human Mutation|September 26, 2018
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentationStefania Magri, Valentina Fracasso, Massimo Plumari, et al.Human Mutation|September 8, 2018
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterionAhmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, et al.Human Mutation|May 23, 2019
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathySophie Scheidecker, Séverine Bär, Corinne Stoetzel, et al.Human Mutation|October 13, 2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genesMichael F Walsh, Deborah I Ritter, Chimene Kesserwan, et al.Human Mutation|October 13, 2018
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standardsArpad M Danos, Deborah I Ritter, Alex H Wagner, et al.Human Mutation|October 13, 2018
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variantsKaren E Wain, Emily Palen, Juliann M Savatt, et al.Pageof 583