Salomons, Gajja S.

Top Publications

Top Publications Authored or Co-Authored by "Salomons, Gajja S."

• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

  Nature Communications, Volume 11, No. 1, Article 4038, Year 2020, Citations 42
• Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

  Nature Communications, Volume 10, No. 1, Article 707, Year 2019, Citations 29
• Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency

  Neuromuscular Disorders, Volume 23, No. 8, Year 2013, Citations 9