| Property | Value |
|---|
| Working Groups |  AG Wollnik |
| Subproject | D02 |
| Open Access | No |
| Publication Type | Journal Article |
| Peer Reviewed | Yes |
| PMID |  28067911 |
| DOI |  10.1038/ng.3765 |
| Publication Year | 2017 |
| Title | De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development  |
| Journal | Nature Genetics |
| ISSN | 1061-4036 |
| URL | http://dx.doi.org/10.1038/ng.3765 |
| Pages | 249-255 |
| Issue | 2 |
| Volume | 49 |
| Journal Abbreviation | Nat Genet |
| Authors | Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura K, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo ASM, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B |
| First Author | Gordon CT |
| Last Author | Reversade B |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
nature.com/articles/ng.3765.pdfhttps://www.nature.com/articles/ng.3765.pdf
Article fulltext
EGAS00001002193https://ega-archive.org/datasets/EGAS00001002193
EGA identifier (EGAS00001002193)
gro-2/2874http://resolver.sub.uni-goettingen.de/purl?gro-2/2874
GRO.publications identifier
0000-0002-9300-8399https://orcid.org/0000-0002-9300-8399
ORCID identifier (Christopher Gordon)
0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198
ORCID identifier (Gökhan Yigit)
0000-0002-3381-7266https://orcid.org/0000-0002-3381-7266
ORCID identifier (Axel M. Hillmer)
0000-0002-2984-1474https://orcid.org/0000-0002-2984-1474
ORCID identifier (Marnie E. Blewitt)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364
ORCID identifier (Bernd Wollnik)
0000-0002-4070-7997https://orcid.org/0000-0002-4070-7997
ORCID identifier (Bruno Reversade)
2CG9https://www.rcsb.org/structure/2CG9
RCSB PDB Identifier (2CG9)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fng.3765/MediaObjects/41588_2017_BFng3765_MOESM283_ESM.pdf
Supplemental material
vstatic-...M.xlsxvhttps://static-content.springer.com/esm/art%3A10.1038%2Fng.3765/MediaObjects/41588_2017_BFng3765_MOESM284_ESM.xlsx
Supplemental material (table)
static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fng.3765/MediaObjects/41588_2017_BFng3765_MOESM285_ESM.xlsx
Supplemental material (table)
Q29465788https://www.wikidata.org/wiki/Q29465788
Wikidata ID
