Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated i...
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
About this item
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Author / Creator
Siekierska, Aleksandra , Stamberger, Hannah , Deconinck, Tine , Oprescu, Stephanie N. , Partoens, Michèle , Zhang, Yifan , Sourbron, Jo , Adriaenssens, Elias , Mullen, Patrick , Wiencek, Patrick , Hardies, Katia , Lee, Jeong-Soo , Giong, Hoi-Khoanh , Distelmaier, Felix , Elpeleg, Orly , Helbig, Katherine L. , Hersh, Joseph , Isikay, Sedat , Jordan, Elizabeth , Karaca, Ender , Kecskes, Angela , Lupski, James R. , Kovacs-Nagy, Reka , May, Patrick , Narayanan, Vinodh , Pendziwiat, Manuela , Ramsey, Keri , Rangasamy, Sampathkumar , Shinde, Deepali N. , Spiegel, Ronen , Timmerman, Vincent , von Spiczak, Sarah , Helbig, Ingo , Weckhuysen, Sarah , Francklyn, Christopher , Antonellis, Anthony , de Witte, Peter , De Jonghe, Peter , AR working group of the EuroEPINOMICS RES Consortium and C4RCD Research Group
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in...
Alternative Titles
Full title
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Authors, Artists and Contributors
Author / Creator
Stamberger, Hannah
Deconinck, Tine
Oprescu, Stephanie N.
Partoens, Michèle
Zhang, Yifan
Sourbron, Jo
Adriaenssens, Elias
Mullen, Patrick
Wiencek, Patrick
Hardies, Katia
Lee, Jeong-Soo
Giong, Hoi-Khoanh
Distelmaier, Felix
Elpeleg, Orly
Helbig, Katherine L.
Hersh, Joseph
Isikay, Sedat
Jordan, Elizabeth
Karaca, Ender
Kecskes, Angela
Lupski, James R.
Kovacs-Nagy, Reka
May, Patrick
Narayanan, Vinodh
Pendziwiat, Manuela
Ramsey, Keri
Rangasamy, Sampathkumar
Shinde, Deepali N.
Spiegel, Ronen
Timmerman, Vincent
von Spiczak, Sarah
Helbig, Ingo
Weckhuysen, Sarah
Francklyn, Christopher
Antonellis, Anthony
de Witte, Peter
De Jonghe, Peter
AR working group of the EuroEPINOMICS RES Consortium
C4RCD Research Group
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ea0d836e898d4bdc88b6a0d98d57ecd8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ea0d836e898d4bdc88b6a0d98d57ecd8
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-07953-w
