| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
RA1.1, RA1.2 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
32483341 |
| DOI |
10.1038/s41431-020-0654-4 |
| Publication Year |
2020 |
| Title |
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome |
| Journal |
European Journal of Human Genetics |
| ISSN |
1018-4813 |
| eISSN |
1476-5438 |
| URL |
http://dx.doi.org/10.1038/s41431-020-0654-4 |
| Pages |
1422-1431 |
| Issue |
10 |
| Volume |
28 |
| Journal Abbreviation |
Eur J Hum Genet |
| Authors |
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E |
| First Author |
Drivas TG |
| Last Author |
Bhoj E |
External Resources
nature.c...-4.pdfhttps://www.nature.com/articles/s41431-020-0654-4.pdf Article fulltext
2/84109http://resolver.sub.uni-goettingen.de/purl?2/84109 GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
0000-0003-1231-1562https://orcid.org/0000-0003-1231-1562 ORCID identifier (Tahsin Stefan Barakat)
0000-0003-0658-1275https://orcid.org/0000-0003-0658-1275 ORCID identifier (Patrick R. Blackburn)
0000-0002-7515-8596https://orcid.org/0000-0002-7515-8596 ORCID identifier (Kathrin Brockmann)
0000-0002-1914-2434https://orcid.org/0000-0002-1914-2434 ORCID identifier (Margit Burmeister)
0000-0001-5509-9923https://orcid.org/0000-0001-5509-9923 ORCID identifier (Gregory M. Cooper)
0000-0002-4883-3023https://orcid.org/0000-0002-4883-3023 ORCID identifier (Alejandro Ferrer)
0000-0002-1347-4358https://orcid.org/0000-0002-1347-4358 ORCID identifier (Zoe Powis)
0000-0003-1993-8018https://orcid.org/0000-0003-1993-8018 ORCID identifier (Francesca Clementina Radio)
0000-0002-0705-1228https://orcid.org/0000-0002-0705-1228 ORCID identifier (Kristen J. Rasmussen)
0000-0002-5424-580Xhttps://orcid.org/0000-0002-5424-580X ORCID identifier (Erica D. Smith)
0000-0002-0119-5896https://orcid.org/0000-0002-0119-5896 ORCID identifier (Thomas Smol)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0001-7297-9228https://orcid.org/0000-0001-7297-9228 ORCID identifier (Huifang Yan)
0000-0001-9713-7107https://orcid.org/0000-0001-9713-7107 ORCID identifier (Philippe M. Campeau)
100710https://www.omim.org/entry/100710 OMIM identifier (100710, CHRNB1)
604041https://www.omim.org/entry/604041 OMIM identifier (604041, MPDU1)
191170https://www.omim.org/entry/191170 OMIM identifier (191170, TP53)
612661https://www.omim.org/entry/612661 OMIM identifier (612661, WRAP53)
1/790https://mbexc.uni-goettingen.de/archive/1/790 Research Data Archive (supplemental material)
02ppyfa04https://ror.org/02ppyfa04 ROR identifier (02ppyfa04, Centre Hospitalier Universitaire de Lille)
01z7r7q48https://ror.org/01z7r7q48 ROR identifier (01z7r7q48, Children's Hospital of Philadelphia)
04zfmcq84https://ror.org/04zfmcq84 ROR identifier (04zfmcq84, Children's Mercy Hospital)
057w15z03https://ror.org/057w15z03 ROR identifier (057w15z03, Erasmus University Rotterdam)
04nz0wq19https://ror.org/04nz0wq19 ROR identifier (04nz0wq19, HudsonAlpha Institute for Biotechnology)
05q6tgt32https://ror.org/05q6tgt32 ROR identifier (05q6tgt32, Kennedy Krieger Institute)
02qp3tb03https://ror.org/02qp3tb03 ROR identifier (02qp3tb03, Mayo Clinic)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
03qryx823https://ror.org/03qryx823 ROR identifier (03qryx823, Technion – Israel Institute of Technology)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
01zgy1s35https://ror.org/01zgy1s35 ROR identifier (01zgy1s35, University Medical Center Hamburg-Eppendorf)
008s83205https://ror.org/008s83205 ROR identifier (008s83205, University of Alabama at Birmingham)
04dkp9463https://ror.org/04dkp9463 ROR identifier (04dkp9463, University of Amsterdam)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
02kzqn938https://ror.org/02kzqn938 ROR identifier (02kzqn938, University of Lille)
00jmfr291https://ror.org/00jmfr291 ROR identifier (00jmfr291, University of Michigan–Ann Arbor)
01w0d5g70https://ror.org/01w0d5g70 ROR identifier (01w0d5g70, University of Missouri–Kansas City)
SCR_014601https://scicrunch.org/resolver/SCR_014601 SciCrunch identifier (RRID:SCR_014601, ggplot2)
media.sp...M.xlsxhttps://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41431-020-0654-4/MediaObjects/41431_2020_654_MOESM1_ESM.xlsx Supplemental material
goeseek.gwdguser.de/studies/337https://goeseek.gwdguser.de/studies/337 Supplemental material (goeseek study)
mbexc.de...drome/https://mbexc.de/de-novo-mutations-in-fbrsl1-cause-a-novel-recognizable-malformation-and-intellectual-disability-syndrome/ Website entry (mbexc.de)
Q96127542https://www.wikidata.org/wiki/Q96127542 Wikidata ID