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Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.Pageof 4