| Property |
Value |
| Working Groups |
RG Lehnart, 
RG Wollnik |
| Subproject |
RA1.1, RA1.2, RA2.1, RA2.2, RA3.1, RA3.2 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
34545459 |
| DOI |
10.1007/s00439-021-02347-3 |
| Publication Year |
2021 |
| Title |
Biallelic variants in YRDC cause a developmental disorder with progeroid features |
| Journal |
Human Genetics |
| ISSN |
0340-6717 |
| eISSN |
1432-1203 |
| URL |
http://dx.doi.org/10.1007/s00439-021-02347-3 |
| Journal Abbreviation |
Hum Genet |
| Authors |
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B |
| First Author |
Schmidt J |
| Last Author |
Wollnik B |
External Resources
link.spr...-3.pdfhttps://link.springer.com/content/pdf/10.1007/s00439-021-02347-3.pdf Article fulltext
2/90122https://publications.goettingen-research-online.de/handle/2/90122 GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
0000-0002-5942-2924https://orcid.org/0000-0002-5942-2924 ORCID identifier (Julia Schmidt)
0000-0002-3382-4669https://orcid.org/0000-0002-3382-4669 ORCID identifier (Tatiana Pochechueva)
0000-0003-0794-5501https://orcid.org/0000-0003-0794-5501 ORCID identifier (Niko Schwenzer)
0000-0003-4372-1521https://orcid.org/0000-0003-4372-1521 ORCID identifier (Janine Altmüller)
0000-0002-0169-998Xhttps://orcid.org/0000-0002-0169-998X ORCID identifier (Holger Thiele)
0000-0002-7228-428Xhttps://orcid.org/0000-0002-7228-428X ORCID identifier (Peter Nürnberg)
0000-0002-3390-0051https://orcid.org/0000-0002-3390-0051 ORCID identifier (Joerg Isensee)
0000-0002-4147-9308https://orcid.org/0000-0002-4147-9308 ORCID identifier (Tim Hucho)
0000-0002-0154-0928https://orcid.org/0000-0002-0154-0928 ORCID identifier (Mark Helm)
0000-0003-2812-6492https://orcid.org/0000-0003-2812-6492 ORCID identifier (Dagmar Wieczorek)
0000-0002-8115-3513https://orcid.org/0000-0002-8115-3513 ORCID identifier (Stephan Elmar Lehnart)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
406https://sfb1002.med.uni-goettingen.de/production/literature/publications/406 Published Data Registry entry (CRC 1002)
1/41https://mbexc.uni-goettingen.de/archive/1/41 Research Data Archive (supplemental material)
031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)
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SCR_012813https://scicrunch.org/resolver/SCR_012813 SciCrunch identifier (RRID:SCR_012813, SIFT)
SCR_015899https://scicrunch.org/resolver/SCR_015899 SciCrunch identifier (RRID:SCR_015899, STAR)
SCR_006786https://scicrunch.org/resolver/SCR_006786 SciCrunch identifier (RRID:SCR_006786, WebGestalt)
SCR_024312https://scicrunch.org/resolver/SCR_024312 SciCrunch identifier (RRID:SCR_024312, WebGestaltR)
static-c...M.docxhttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-021-02347-3/MediaObjects/439_2021_2347_MOESM1_ESM.docx Supplemental material
static-c...M.docxhttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-021-02347-3/MediaObjects/439_2021_2347_MOESM2_ESM.docx Supplemental material
static-c...ESM.aihttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-021-02347-3/MediaObjects/439_2021_2347_MOESM3_ESM.ai Supplemental material (figure)
static-c...ESM.aihttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-021-02347-3/MediaObjects/439_2021_2347_MOESM4_ESM.ai Supplemental material (figure)
static-c...ESM.aihttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-021-02347-3/MediaObjects/439_2021_2347_MOESM5_ESM.ai Supplemental material (figure)
goeseek.gwdguser.de/studies/131https://goeseek.gwdguser.de/studies/131 Supplemental material (goeseek study)
static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-021-02347-3/MediaObjects/439_2021_2347_MOESM6_ESM.xlsx Supplemental material (table)
static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-021-02347-3/MediaObjects/439_2021_2347_MOESM7_ESM.xlsx Supplemental material (table)
mbexc.de...tures/https://mbexc.de/biallelic-variants-in-yrdc-cause-a-developmental-disorder-with-progeroid-features/ Website entry (mbexc.de)
Q112714255https://www.wikidata.org/wiki/Q112714255 Wikidata ID