| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
35815345 |
| DOI |
10.1002/humu.24435 |
| Publication Year |
2022 |
| Title |
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function |
| Journal |
Human Mutation |
| ISSN |
1059-7794 |
| eISSN |
1098-1004 |
| URL |
http://dx.doi.org/10.1002/humu.24435 |
| Journal Abbreviation |
Hum Mutat |
| Authors |
Lin S, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon M, Rüschendorf F, Kong I, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim H, Varshney GK |
| First Author |
Lin S |
| Last Author |
Varshney GK |
External Resources
onlineli...d=truehttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24435?download=true Article fulltext
2/113144https://publications.goettingen-research-online.de/handle/2/113144 GRO.publications identifier
6239https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=6239 NCBI taxonomy (C. elegans, Caenorhabditis elegans)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
10090https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=10090 NCBI taxonomy (mouse, Mus musculus)
0000-0002-7559-6529https://orcid.org/0000-0002-7559-6529 ORCID identifier (Sheng-Jia Lin)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447 ORCID identifier (Barbara Vona)
0000-0001-5037-1473https://orcid.org/0000-0001-5037-1473 ORCID identifier (Saadullah Khan)
1/103https://mbexc.uni-goettingen.de/archive/1/103 Research Data Archive (supplemental material)
012mef835https://ror.org/012mef835 ROR identifier (012mef835, Augusta University)
02pttbw34https://ror.org/02pttbw34 ROR identifier (02pttbw34, Baylor College of Medicine)
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03wa2q724https://ror.org/03wa2q724 ROR identifier (03wa2q724, Children's National)
00saywf64https://ror.org/00saywf64 ROR identifier (00saywf64, Gyeongsang National University)
03eyq4y97https://ror.org/03eyq4y97 ROR identifier (03eyq4y97, Hamad bin Khalifa University)
057d2v504https://ror.org/057d2v504 ROR identifier (057d2v504, Kohat University of Science and Technology)
05ect4e57https://ror.org/05ect4e57 ROR identifier (05ect4e57, Louisiana State University)
04p5ggc03https://ror.org/04p5ggc03 ROR identifier (04p5ggc03, Max Delbrück Center for Molecular Medicine)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
035z6xf33https://ror.org/035z6xf33 ROR identifier (035z6xf33, Oklahoma Medical Research Foundation)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
00fbnyb24https://ror.org/00fbnyb24 ROR identifier (00fbnyb24, University of Würzburg)
SCR_017001https://scicrunch.org/resolver/SCR_017001 SciCrunch identifier (RRID:SCR_017001, Allen Brain Atlas)
SCR_006169https://scicrunch.org/resolver/SCR_006169 SciCrunch identifier (RRID:SCR_006169, ClinVar)
SCR_018393https://scicrunch.org/resolver/SCR_018393 SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion (CADD))
SCR_015935https://scicrunch.org/resolver/SCR_015935 SciCrunch identifier (RRID:SCR_015935, CRISPOR)
SCR_017467https://scicrunch.org/resolver/SCR_017467 SciCrunch identifier (RRID:SCR_017467, gEAR)
SCR_014964https://scicrunch.org/resolver/SCR_014964 SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)
SCR_010802https://scicrunch.org/resolver/SCR_010802 SciCrunch identifier (RRID:SCR_010802, GensearchNGS)
SCR_001888https://scicrunch.org/resolver/SCR_001888 SciCrunch identifier (RRID:SCR_001888, HGMD)
SCR_005181https://scicrunch.org/resolver/SCR_005181 SciCrunch identifier (RRID:SCR_005181, Human Splicing Finder)
SCR_003070https://scicrunch.org/resolver/SCR_003070 SciCrunch identifier (RRID:SCR_003070, ImageJ)
SCR_011793https://scicrunch.org/resolver/SCR_011793 SciCrunch identifier (RRID:SCR_011793, Integrative Genomics Viewer)
SCR_014627https://scicrunch.org/resolver/SCR_014627 SciCrunch identifier (RRID:SCR_014627, I-TASSER)
SCR_006566https://scicrunch.org/resolver/SCR_006566 SciCrunch identifier (RRID:SCR_006566, LOVD)
SCR_016707https://scicrunch.org/resolver/SCR_016707 SciCrunch identifier (RRID:SCR_016707, MaxEntScan)
SCR_010777https://scicrunch.org/resolver/SCR_010777 SciCrunch identifier (RRID:SCR_010777, MutationTaster)
SCR_013189https://scicrunch.org/resolver/SCR_013189 SciCrunch identifier (RRID:SCR_013189, PolyPhen)
SCR_000305https://scicrunch.org/resolver/SCR_000305 SciCrunch identifier (RRID:SCR_000305, PyMOL)
SCR_012813https://scicrunch.org/resolver/SCR_012813 SciCrunch identifier (RRID:SCR_012813, SIFT)
onlineli...L.docxhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fhumu.24435&file=humu24435-sup-0001-Supp_Mat_FINAL.docx Supplemental material
onlineli...2.xlsxhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fhumu.24435&file=humu24435-sup-0002-Table_S2.xlsx Supplemental material (table)
onlineli...1.xlsxhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fhumu.24435&file=humu24435-sup-0003-Table_S3_R1.xlsx Supplemental material (table)
mbexc.de...ction/https://mbexc.de/biallelic-variants-in-wars1-cause-a-highly-variable-neurodevelopmental-syndrome-and-implicate-a-critical-exon-for-normal-auditory-function/ Website entry (mbexc.de)