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Human Mutation|August 22, 2018
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 UpdateMeng Wang, Keith M Callenberg, Raymond Dalgleish, et al.Human Mutation|May 31, 2019
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challengeMarco Carraro, Alexander Miguel Monzon, Luigi Chiricosta, et al.Human Mutation|May 4, 2019
Functional classification of ATM variants in ataxia-telangiectasia patientsAlice Fiévet, Dorine Bellanger, Guillaume Rieunier, et al.Human Mutation|January 28, 2022
Variant interpretation: UCSC Genome Browser Recommended Track SetsAnna Benet-Pagès, Kate R Rosenbloom, Luis R Nassar, et al.Human Mutation|April 23, 2022
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discoveryDavid Lewis-Smith, Shridhar Parthasarathy, Julie Xian, et al.Human Mutation|April 7, 2022
Bioinformatics detection of modulators controlling splicing factor-dependent intron retention in the human brainSteven X Chen, Ed Simpson, Jill L Reiter, et al.Human Mutation|April 7, 2022
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare diseaseJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.Human Mutation|April 26, 2022
Clinical whole-genome sequencing in cancer diagnosisYing-Chen C Hou, Julie A Neidich, Eric J Duncavage, et al.Human Mutation|April 27, 2022
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau diseaseAndreea Chiorean, Kirsten M Farncombe, Sean Delong, et al.Human Mutation|April 27, 2022
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosisHtoo A Wai, Matthew Constable, Cosima Drewes, et al.Pageof 583