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Human Mutation|December 17, 2021
Generation and mutational analysis of a transgenic mouse model of human SRYElla Thomson, Liang Zhao, Yen-Shan Chen, et al.Human Mutation|December 9, 2021
Variant calling: Considerations, practices, and developmentsStepanka Zverinova, Victor GuryevHuman Mutation|January 11, 2022
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disabilityPan Gong, Jing Liu, Xianru Jiao, et al.Human Mutation|December 19, 2021
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucomaEdward Ryan A Collantes, Manuel S Delfin, Baojian Fan, et al.Human Mutation|December 28, 2021
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotypeSimon Lebaron, Marie-Françoise O'Donohue, Scott C Smith, et al.Human Mutation|March 14, 2021
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalencePanayiotis K Yiallouros, Panayiotis Kouis, Kyriacos Kyriacou, et al.Human Mutation|November 1, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delayHongzheng Dai, Wenmiao Zhu, Bo Yuan, et al.Human Mutation|October 27, 2022
VariantAlert: A web-based tool to notify updates in genetic variant annotationsRossano Atzeni, Matteo Massidda, Giorgio Fotia, et al.Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.Human Mutation|October 11, 2022
Revealing the functions of clonal driver gene mutations in patients based on evolutionary dependenciesYujia Lan, Wei Liu, Xiaobo Hou, et al.Pageof 582