Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al

Leidi, A., Previtali, R., Parazzini, C., Raviglione, F., Carelli, S., Mendes, M. I., Salomons, G. S., Iascone, M. & Tonduti, D., 1 May 2022, In: Genetics in Medicine. 24, 5, p. 1152-1153 2 p.

Research output: Contribution to journal › Letter › Academic › peer-review

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

Bögershausen, N., Krawczyk, H. E., Jamra, R. A., Lin, S-J., Yigit, G. K., Hüning, I., Polo, A. M., Vona, B., Huang, K., Schmidt, J., Altmüller, J., Luppe, J., Platzer, K., Dörgeloh, B. B., Busche, A., Biskup, S., Mendes, M. I., Smith, D. E. C., Salomons, G. S., Zibat, A., & 10 othersBültmann, E., Nürnberg, P., Spielmann, M., Lemke, J. R., Li, Y., Zenker, M., Varshney, G. K., Hillen, H. S., Kratz, C. P. & Wollnik, B., Oct 2022, In: Human Mutation. 43, 10, p. 1454-1471 18 p.

Research output: Contribution to journal › Article › Academic › peer-review

Expanded phenotype of AARS1-related white matter disease

Helman, G., Mendes, M. I., Nicita, F., Darbelli, L., Sherbini, O., Moore, T., Derksen, A., Amy Pizzino, P., Carrozzo, R., Torraco, A., Catteruccia, M., Aiello, C., Goffrini, P., Figuccia, S., Smith, D. E. C., Hadzsiev, K., Hahn, A., Biskup, S., Brösse, I., Kotzaeridou, U., & 17 othersGauck, D., Grebe, T. A., Elmslie, F., Stals, K., Gupta, R., Bertini, E., Thiffault, I., Taft, R. J., Schiffmann, R., Brandl, U., Haack, T. B., Salomons, G. S., Simons, C., Bernard, G., van der Knaap, M. S., Vanderver, A. & Husain, R. A., Dec 2021, In: Genetics in Medicine. 23, 12, p. 2352-2359 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

Tabolacci, E., Molinario, C., Marangi, G., Nobile, V., Arena, V., Mendes, M. I., Smith, D. E. C., Salomons, G. S., Tana, M., Costa, S., Vento, G. & Genuardi, M., Apr 2021, In: Clinical Genetics. 99, 4, p. 601-603 3 p.

Research output: Contribution to journal › Letter › Academic › peer-review

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

Manole, A., Efthymiou, S., O'Connor, E., Mendes, M. I., Jennings, M., Maroofian, R., Davagnanam, I., Mankad, K., Lopez, M. R., Salpietro, V., Harripaul, R., Badalato, L., Walia, J., Francklyn, C. S., Athanasiou-Fragkouli, A., Sullivan, R., Desai, S., Baranano, K., Zafar, F., Rana, N., & 73 othersIlyas, M., Horga, A., Kara, M., Mattioli, F., Goldenberg, A., Griffin, H., Piton, A., Henderson, L. B., Kara, B., Aslanger, A. D., Raaphorst, J., Pfundt, R., Portier, R., Shinawi, M., Kirby, A., Christensen, K. M., Wang, L., Rosti, R. O., Paracha, S. A., Sarwar, M. T., Jenkins, D., Ahmed, J., Santoni, F. A., Ranza, E., Iwaszkiewicz, J., Cytrynbaum, C., Weksberg, R., Wentzensen, I. M., Guillen Sacoto, M. J., Si, Y., Telegrafi, A., Andrews, M. V., Baldridge, D., Gabriel, H., Mohr, J., Oehl-Jaschkowitz, B., Debard, S., Senger, B., Fischer, F., van Ravenwaaij, C., Fock, A. J. M., Stevens, S. J. C., Bähler, J., Nasar, A., Mantovani, J. F., Manzur, A., Sarkozy, A., Smith, D. E. C., Salomons, G. S., Ahmed, Z. M., Riazuddin, S., Riazuddin, S., Usmani, M. A., Seibt, A., Ansar, M., Antonarakis, S. E., Vincent, J. B., Ayub, M., Grimmel, M., Jelsig, A. M., Hjortshøj, T. D., Karstensen, H. G., Hummel, M., Haack, T. B., Jamshidi, Y., Distelmaier, F., Horvath, R., Gleeson, J. G., Becker, H., Mandel, J. L., Koolen, D. A., Houlden, H. & SYNAPS Study Group, 6 Aug 2020, In: American journal of human genetics. 107, 2, p. 311-324 14 p.

Research output: Contribution to journal › Article › Academic › peer-review