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The Journal of Experimental Medicine|November 12, 2017
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defectsMaria A Rujano, Magda Cannata Serio, Ganna Panasyuk, et al.European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.Mbio|November 8, 2018
Leishmania Genome Dynamics during Environmental Adaptation Reveal Strain-Specific Differences in Gene Copy Number Variation, Karyotype Instability, and Telomeric AmplificationGiovanni Bussotti, Evi Gouzelou, Mariana Côrtes Boité, et al.American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.Nature Microbiology|August 31, 2016
Global phylogeography and evolutionary history of Shigella dysenteriae type 1Elisabeth Njamkepo, Nizar Fawal, Alicia Tran-Dien, et al.Pageof 8