External Resources
nature.c...-0.pdfhttps://www.nature.com/articles/s41431-025-01821-0.pdf
Article fulltext
gro-2/148435http://resolver.sub.uni-goettingen.de/purl?gro-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)