Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1