Swiss Institute Of Genomic Medicine (medigenome)
Research facility
Location:
Genève,
Switzerland (CH)
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2025)
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, et al.
Journal article
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021)
Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al.
Journal article