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Human Mutation|June 11, 2019
A Vietnamese human genetic variation databaseVinh S Le, Kien T Tran, Hoa T P Bui, et al.Human Mutation|June 19, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.Human Mutation|June 19, 2019
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countriesYael Laitman, Tara M Friebel, Drakoulis Yannoukakos, et al.Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.Human Mutation|January 25, 2022
Detection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long-read sequencingKen Natsuga, Yoshikazu Furuta, Shota Takashima, et al.Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.Human Mutation|February 16, 2022
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype-resolved long-read next generation sequencingDario Dilernia, Pooneh Amin, Julie Flores, et al.Human Mutation|February 16, 2022
The impact of GeneMatcher on international data sharing and collaborationAda Hamosh, Elizabeth Wohler, Renan Martin, et al.Human Mutation|February 3, 2022
A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thriveJulia M Wang, Daniel V Ho, Amy Kritzer, et al.Human Mutation|February 3, 2022
Qatar genome: Insights on genomics from the Middle EastHamdi Mbarek, Geethanjali Devadoss Gandhi, Senthil Selvaraj, et al.Pageof 583