De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects

Authors

Andreea Manole, University College London
Marwan Shinawi, Washington University School of Medicine in St. Louis
Marisa V. Andrews, Washington University School of Medicine in St. Louis
Dustin Baldridge, Washington University School of Medicine in St. Louis
John F. Mantovani, Washington University School of Medicine in St. Louis
et al.

Journal

American Journal of Human Genetics

Publication Date

8-6-2020

Volume

107

Issue

2

First Page

311

Last Page

324

Document Type

Open Access Publication

DOI

10.1016/j.ajhg.2020.06.016

Rights and Permissions

Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Copyright 2020 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Recommended Citation

Manole, Andreea; Shinawi, Marwan; Andrews, Marisa V.; Baldridge, Dustin; Mantovani, John F.; and et al., "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. 107, 2. 311 - 324. (2020).
https://digitalcommons.wustl.edu/oa_4/1431

Department

ICTS (Institute of Clinical and Translational Sciences)

Additional Links

Supplemental material is available for this article at publisher site.