| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
40114033 |
| DOI |
10.1038/s41431-025-01821-0 |
| Publication Year |
2025 |
| Title |
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches |
| Journal |
European Journal of Human Genetics |
| ISSN |
1018-4813 |
| eISSN |
1476-5438 |
| URL |
https://doi.org/10.1038/s41431-025-01821-0 |
| Journal Abbreviation |
Eur J Hum Genet |
| Authors |
Cuinat S, Chatron N, Petit F, Brunelle P, Dincuff E, Aubert Mucca M, Bieth E, Schmetz A, Rieder H, Wollnik B, Kaulfuß S, Yigit G, McKeown C, Savage T, Mulligan MR, Bicknell LS, Corsten-Janssen N, Edery P, Lesca G, de Villartay J, Putoux A |
| First Author |
Cuinat S |
| Last Author |
Putoux A |
External Resources
nature.c...-0.pdfhttps://www.nature.com/articles/s41431-025-01821-0.pdf Article fulltext
2/148435https://publications.goettingen-research-online.de/handle/2/148435 GRO.publications identifier
RCV004798185.1https://www.ncbi.nlm.nih.gov/clinvar/variation/RCV004798185.1 NCBI clinvar (RCV004798185.1)
RCV004798186.1https://www.ncbi.nlm.nih.gov/clinvar/variation/RCV004798186.1 NCBI clinvar (RCV004798186.1)
0000-0002-0763-5661https://orcid.org/0000-0002-0763-5661 ORCID identifier (Silvestre Cuinat)
0000-0003-0538-0981https://orcid.org/0000-0003-0538-0981 ORCID identifier (Nicolas Chatron)
0000-0002-1368-1023https://orcid.org/0000-0002-1368-1023 ORCID identifier (Florence Petit)
0000-0002-3589-6885https://orcid.org/0000-0002-3589-6885 ORCID identifier (Perrine Brunelle)
0000-0002-8638-2630https://orcid.org/0000-0002-8638-2630 ORCID identifier (Marion Aubert Mucca)
0000-0003-3126-5493https://orcid.org/0000-0003-3126-5493 ORCID identifier (Eric Bieth)
0000-0001-8220-7854https://orcid.org/0000-0001-8220-7854 ORCID identifier (Ariane Schmetz)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0003-2577-9711https://orcid.org/0000-0003-2577-9711 ORCID identifier (Silke Kaulfuß)
0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198 ORCID identifier (Gökhan Yigit)
0009-0009-7673-5111https://orcid.org/0009-0009-7673-5111 ORCID identifier (Meghan R. Mulligan)
0000-0001-6899-9322https://orcid.org/0000-0001-6899-9322 ORCID identifier (Louise S. Bicknell)
0000-0002-9438-2374https://orcid.org/0000-0002-9438-2374 ORCID identifier (Nicole Corsten-Janssen)
0000-0001-8976-5832https://orcid.org/0000-0001-8976-5832 ORCID identifier (Patrick Edery)
0000-0001-7691-9492https://orcid.org/0000-0001-7691-9492 ORCID identifier (Gaetan Lesca)
0000-0001-5987-0463https://orcid.org/0000-0001-5987-0463 ORCID identifier (Jean-Pierre de Villartay)
0000-0001-5496-4604https://orcid.org/0000-0001-5496-4604 ORCID identifier (Audrey Putoux)
1/586https://mbexc.uni-goettingen.de/archive/1/586 Research Data Archive (supplemental material)
02feahw73https://ror.org/02feahw73 ROR identifier (02feahw73, Centre National de la Recherche Scientifique)
006k2kk72https://ror.org/006k2kk72 ROR identifier (006k2kk72, Düsseldorf University Hospital)
031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)
03vcx3f97https://ror.org/03vcx3f97 ROR identifier (03vcx3f97, Hôpital Purpan)
01502ca60https://ror.org/01502ca60 ROR identifier (01502ca60, Hospices Civils de Lyon)
02vjkv261https://ror.org/02vjkv261 ROR identifier (02vjkv261, Inserm)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
029brtt94https://ror.org/029brtt94 ROR identifier (029brtt94, Université Claude Bernard Lyon 1)
02kzqn938https://ror.org/02kzqn938 ROR identifier (02kzqn938, Université de Lille)
05f82e368https://ror.org/05f82e368 ROR identifier (05f82e368, Université Paris Cité)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
03cv38k47https://ror.org/03cv38k47 ROR identifier (03cv38k47, University Medical Center Groningen)
012p63287https://ror.org/012p63287 ROR identifier (012p63287, University of Groningen)
01jmxt844https://ror.org/01jmxt844 ROR identifier (01jmxt844, University of Otago)
007n45g27https://ror.org/007n45g27 ROR identifier (007n45g27, Wellington Hospital)
SCR_010910https://scicrunch.org/resolver/SCR_010910 SciCrunch identifier (RRID:SCR_010910, BWA)
SCR_001802https://scicrunch.org/resolver/SCR_001802 SciCrunch identifier (RRID:SCR_001802, CASAVA)
SCR_001876https://scicrunch.org/resolver/SCR_001876 SciCrunch identifier (RRID:SCR_001876, GATK)
SCR_020132https://scicrunch.org/resolver/SCR_020132 SciCrunch identifier (RRID:SCR_020132, Illumina HiSeq2000 High Throughput Genetic Sequencer)
SCR_014983https://scicrunch.org/resolver/SCR_014983 SciCrunch identifier (RRID:SCR_014983, Illumina NextSeq 500)
SCR_016381https://scicrunch.org/resolver/SCR_016381 SciCrunch identifier (RRID:SCR_016381, Illumina NextSeq 550 System)
static-c...M.docxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41431-025-01821-0/MediaObjects/41431_2025_1821_MOESM1_ESM.docx Supplemental material
goeseek.gwdguser.de/studies/231https://goeseek.gwdguser.de/studies/231 Supplemental material (goeseek study)
static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41431-025-01821-0/MediaObjects/41431_2025_1821_MOESM2_ESM.xlsx Supplemental material (table)
static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41431-025-01821-0/MediaObjects/41431_2025_1821_MOESM3_ESM.xlsx Supplemental material (table)
mbexc.de...aches/https://mbexc.de/xrcc4-related-microcephalic-primordial-dwarfism-description-of-a-clinical-series-of-7-cases-phenotype-expansion-and-new-diagnostic-approaches/ Website entry (mbexc.de)