| Property |
Value |
| Working Groups |
RG Moser |
| Subproject |
RA1.2 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
35278131 |
| DOI |
10.1007/s00439-022-02444-x |
| Publication Year |
2022 |
| Title |
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene |
| Journal |
Human Genetics |
| ISSN |
0340-6717 |
| eISSN |
1432-1203 |
| URL |
http://dx.doi.org/10.1007/s00439-022-02444-x |
| Journal Abbreviation |
Hum Genet |
| Authors |
Pater JA, Penney C, O’Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young T |
| First Author |
Pater JA |
| Last Author |
Young T |
External Resources
link.spr...-x.pdfhttps://link.springer.com/content/pdf/10.1007/s00439-022-02444-x.pdf Article fulltext
2/105609https://publications.goettingen-research-online.de/handle/2/105609 GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447 ORCID identifier (Barbara Vona)
1/291https://mbexc.uni-goettingen.de/archive/1/291 Research Data Archive (supplemental material)
03vek6s52https://ror.org/03vek6s52 ROR identifier (03vek6s52, Harvard University)
057q4rt57https://ror.org/057q4rt57 ROR identifier (057q4rt57, Hospital for Sick Children)
01pxwe438https://ror.org/01pxwe438 ROR identifier (01pxwe438, McGill University)
04haebc03https://ror.org/04haebc03 ROR identifier (04haebc03, Memorial University of Newfoundland)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
020rzx487https://ror.org/020rzx487 ROR identifier (020rzx487, Sheba Medical Center)
03qryx823https://ror.org/03qryx823 ROR identifier (03qryx823, Technion – Israel Institute of Technology)
04mhzgx49https://ror.org/04mhzgx49 ROR identifier (04mhzgx49, Tel Aviv University)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
02grkyz14https://ror.org/02grkyz14 ROR identifier (02grkyz14, Western University)
04ayype77https://ror.org/04ayype77 ROR identifier (04ayype77, Wolfson Medical Center)
CVCL_0063https://scicrunch.org/resolver/CVCL_0063 SciCrunch identifier (RRID:CVCL_0063, HEK293T)
SCR_023662https://scicrunch.org/resolver/SCR_023662 SciCrunch identifier (RRID:SCR_023662, AlphaFold Protein Structure Database)
SCR_006442https://scicrunch.org/resolver/SCR_006442 SciCrunch identifier (RRID:SCR_006442, Bioconductor)
SCR_013036https://scicrunch.org/resolver/SCR_013036 SciCrunch identifier (RRID:SCR_013036, cn.mops)
SCR_001876https://scicrunch.org/resolver/SCR_001876 SciCrunch identifier (RRID:SCR_001876, GATK)
SCR_014290https://scicrunch.org/resolver/SCR_014290 SciCrunch identifier (RRID:SCR_014290, GeneMapper)
SCR_005181https://scicrunch.org/resolver/SCR_005181 SciCrunch identifier (RRID:SCR_005181, Human Splicing Finder)
SCR_003253https://scicrunch.org/resolver/SCR_003253 SciCrunch identifier (RRID:SCR_003253, LUMPY)
SCR_001247https://scicrunch.org/resolver/SCR_001247 SciCrunch identifier (RRID:SCR_001247, Mutation Surveyor)
SCR_021830https://scicrunch.org/resolver/SCR_021830 SciCrunch identifier (RRID:SCR_021830, Maxent)
SCR_005191https://scicrunch.org/resolver/SCR_005191 SciCrunch identifier (RRID:SCR_005191, SnpEff)
SCR_013360https://scicrunch.org/resolver/SCR_013360 SciCrunch identifier (RRID:SCR_013360, Superlink)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-022-02444-x/MediaObjects/439_2022_2444_MOESM1_ESM.pdf Supplemental material
goeseek.gwdguser.de/studies/95https://goeseek.gwdguser.de/studies/95 Supplemental material (goeseek study)
Q114960546https://www.wikidata.org/wiki/Q114960546 Wikidata ID