Scientific Publications and Research
Publications on NARS1 Gene Mutations
There are very few publications documenting genotype (mutations) and phenotype (symptoms) on NARS1 gene mutations. For a family who receives a diagnosis of NARS1 disease, it is difficult to process, make connections, and find answers.
The Rory Belle Foundation hopes to change that.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects - the American Journal of Human Genetics - Published 2020
Supplemental Appendix (includes each individual patient with disease presentation) - the American Journal of Human Genetics
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly - from Nature Communications - Published 2020
Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene -from Acta Medica Bulgarica - Published 2022