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

A. Manole, S. Efthymiou, E. O'Connor, M.I. Mendes, M. Jennings, R. Maroofian, I. Davagnanam, K. Mankad, M.R. Lopez, V. Salpietro, R. Harripaul, L. Badalato, J. Walia, C.S. Francklyn, A. Athanasiou-Fragkouli, R. Sullivan, S. Desai, K. Baranano, F. Zafar, N. RanaM. Ilyas, A. Horga, M. Kara, F. Mattioli, A. Goldenberg, H. Griffin, A. Piton, L.B. Henderson, B. Kara, A.D. Aslanger, J. Raaphorst, R. Pfundt, R. Portier, M. Shinawi, A. Kirby, K.M. Christensen, L. Wang, R.O. Rosti, S.A. Paracha, M.T. Sarwar, D. Jenkins, J. Ahmed, F.A. Santoni, E. Ranza, J. Iwaszkiewicz, C. Cytrynbaum, R. Weksberg, I.M. Wentzensen, M.J.G. Sacoto, Y. Si, Servi Stevens, SYNAPS Study Group

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)311-324
Number of pages14
JournalAmerican Journal of Human Genetics
Volume107
Issue number2
DOIs
Publication statusPublished - 6 Aug 2020

Keywords

  • 2 siblings
  • expression
  • mutations
  • transfer-rna synthetase
  • 2 SIBLINGS
  • TRANSFER-RNA SYNTHETASE
  • MUTATIONS
  • EXPRESSION

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