Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Brunhilde Wirth, Bertold Schrank et al.|Human Mutation|2018Cited by 53
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomalyQuentin Thomas, Giulia Barcia, Jasmine C. Wong et al.|The American Journal of Human Genetics|2022Cited by 9