| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Preprint |
| Peer Reviewed |
No |
| DOI |
10.1101/2023.06.06.23290887 |
| Publication Year |
2023 |
| Title |
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases |
| Journal |
medRxiv |
| eISSN |
3067-2007 |
| URL |
http://dx.doi.org/10.1101/2023.06.06.23290887 |
| Journal Abbreviation |
medRxiv |
| Extra |
Not yet finally published in a peer-reviewed journal |
| Authors |
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, ten Hagen M, Thong MK, Mazlan RAB, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Carvalho Nunes B, Vilella T, Furquim Pinheiro I, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, Zarate YA, Martinez Conti M, Karakaya M, Tung ML, Chandra B, Bouman A, Lumaka A, Wasif N, Shinawi M, Blackburn PR, Wang T, Niehues T, Schmidt A, Roth RR, Wieczorek D, Hu P, Waikel RL, Ledgister Hanchard SE, Elmakkawy G, Safwat S, Ebstein F, Krüger E, Küry S, Bézieau S, Arlt A, Olinger E, Marbach F, Li D, Dupuis L, Mendoza-Londono R, Houge SD, Weis D, Chung BHY, Mak CCY, Kayserili H, Elcioglu N, Aykut A, Şimşek-Kiper PÖ, Bögershausen N, Wollnik B, Bentzen HB, Kurth I, Netzer C, Jezela-Stanek A, Devriendt K, Gripp KW, Mücke M, Verloes A, Schaaf CP, Nellåker C, Solomon BD, Nöthen MM, Abdalla E, Lyon GJ, Krawitz PM, Hsieh TC |
| First Author |
Lesmann H |
| Last Author |
Hsieh T |
External Resources
medrxiv....ll.pdfhttps://www.medrxiv.org/content/10.1101/2023.06.06.23290887v3.full.pdf Article fulltext
2/165529https://publications.goettingen-research-online.de/handle/2/165529 GRO.publications identifier
0000-0002-4463-3067https://orcid.org/0000-0002-4463-3067 ORCID identifier (Shahida Moosa)
0000-0003-3752-1275https://orcid.org/0000-0003-3752-1275 ORCID identifier (Hannah Klinkhammer)
0000-0003-1231-1562https://orcid.org/0000-0003-1231-1562 ORCID identifier (Tahsin Stefan Barakat)
0000-0001-6127-6308https://orcid.org/0000-0001-6127-6308 ORCID identifier (Konrad Platzer)
0000-0002-9136-5106https://orcid.org/0000-0002-9136-5106 ORCID identifier (Amaia Lasa-Aranzasti)
0000-0003-1881-3782https://orcid.org/0000-0003-1881-3782 ORCID identifier (John Sayer)
0000-0002-2551-242Xhttps://orcid.org/0000-0002-2551-242X ORCID identifier (Elke Krüger)
0000-0001-5497-0465https://orcid.org/0000-0001-5497-0465 ORCID identifier (Sébastien Küry)
0000-0001-8890-7544https://orcid.org/0000-0001-8890-7544 ORCID identifier (Sofia Douzgou Houge)
0000-0003-4300-8224https://orcid.org/0000-0003-4300-8224 ORCID identifier (Nina Bögershausen)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0002-2887-2068https://orcid.org/0000-0002-2887-2068 ORCID identifier (Christoffer Nellåker)
0000-0002-5869-0716https://orcid.org/0000-0002-5869-0716 ORCID identifier (Gholson J. Lyon)
0000-0002-3194-8625https://orcid.org/0000-0002-3194-8625 ORCID identifier (Peter M. Krawitz)
978https://prod.mbexc.uni-goettingen.de/literature/publications/978 Published Data Registry entry (MBExC, preprint)
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00mzz1w90https://ror.org/00mzz1w90 ROR identifier (00mzz1w90, Alexandria University)
00jyx0v10https://ror.org/00jyx0v10 ROR identifier (00jyx0v10, Alfred I. duPont Hospital for Children)
01t33qq42https://ror.org/01t33qq42 ROR identifier (01t33qq42, Arkansas Children's Hospital)
033ttrk34https://ror.org/033ttrk34 ROR identifier (033ttrk34, Armed Forces College of Medicine)
032p1n739https://ror.org/032p1n739 ROR identifier (032p1n739, Autonomous University of Yucatán)
0493xsw21https://ror.org/0493xsw21 ROR identifier (0493xsw21, Berlin Institute of Health at Charité - Universitätsmedizin Berlin)
03kgsv495https://ror.org/03kgsv495 ROR identifier (03kgsv495, Bar-Ilan University)
038vngd42https://ror.org/038vngd42 ROR identifier (038vngd42, Centre Hospitalier Universitaire de Kigali)
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028wp3y58https://ror.org/028wp3y58 ROR identifier (028wp3y58, Chulalongkorn University)
00453a208https://ror.org/00453a208 ROR identifier (00453a208, City University of New York)
03s4khd80https://ror.org/03s4khd80 ROR identifier (03s4khd80, Cliniques Universitaires Saint-Luc)
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02gz6gg07https://ror.org/02gz6gg07 ROR identifier (02gz6gg07, Florida International University)
046ak2485https://ror.org/046ak2485 ROR identifier (046ak2485, Freie Universität Berlin)
00y4zzh67https://ror.org/00y4zzh67 ROR identifier (00y4zzh67, George Washington University)
031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)
00j161312https://ror.org/00j161312 ROR identifier (00j161312, Guy's and St Thomas' NHS Foundation Trust)
038t36y30https://ror.org/038t36y30 ROR identifier (038t36y30, Heidelberg University)
01be19w37https://ror.org/01be19w37 ROR identifier (01be19w37, Helios Klinikum Krefeld)
02dcqy320https://ror.org/02dcqy320 ROR identifier (02dcqy320, Hôpital Robert-Debré)
057q4rt57https://ror.org/057q4rt57 ROR identifier (057q4rt57, Hospital for Sick Children)
001jx2139https://ror.org/001jx2139 ROR identifier (001jx2139, Hospital Sant Joan de Déu Barcelona)
04wxdxa47https://ror.org/04wxdxa47 ROR identifier (04wxdxa47, Hospital Universitari Germans Trias i Pujol)
05jmd4043https://ror.org/05jmd4043 ROR identifier (05jmd4043, Hospital Universitario Son Espases)
01hcx6992https://ror.org/01hcx6992 ROR identifier (01hcx6992, Humboldt-Universität zu Berlin)
00w1xt505https://ror.org/00w1xt505 ROR identifier (00w1xt505, Hunter Genetics)
03pt86f80https://ror.org/03pt86f80 ROR identifier (03pt86f80, Innsbruck Medical University)
05adj5455https://ror.org/05adj5455 ROR identifier (05adj5455, Instituto Nacional de Pediatria)
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02h3bfj85https://ror.org/02h3bfj85 ROR identifier (02h3bfj85, Kepler Universitätsklinikum)
05hffr360https://ror.org/05hffr360 ROR identifier (05hffr360, Khalifa University of Science and Technology)
05jd2pj53https://ror.org/05jd2pj53 ROR identifier (05jd2pj53, King Chulalongkorn Memorial Hospital)
0220mzb33https://ror.org/0220mzb33 ROR identifier (0220mzb33, King's College London)
00jzwgz36https://ror.org/00jzwgz36 ROR identifier (00jzwgz36, Koç University)
05f950310https://ror.org/05f950310 ROR identifier (05f950310, KU Leuven)
03s7gtk40https://ror.org/03s7gtk40 ROR identifier (03s7gtk40, Leipzig University)
01nr6fy72https://ror.org/01nr6fy72 ROR identifier (01nr6fy72, Ljubljana University Medical Centre)
02kswqa67https://ror.org/02kswqa67 ROR identifier (02kswqa67, Marmara University)
00y4ya841https://ror.org/00y4ya841 ROR identifier (00y4ya841, Medical University of Białystok)
01n2xwm51https://ror.org/01n2xwm51 ROR identifier (01n2xwm51, Meyer Children's Hospital)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
03gnr7b55https://ror.org/03gnr7b55 ROR identifier (03gnr7b55, Nantes Université)
00baak391https://ror.org/00baak391 ROR identifier (00baak391, National Human Genome Research Institute)
01kj2bm70https://ror.org/01kj2bm70 ROR identifier (01kj2bm70, Newcastle University)
05p40t847https://ror.org/05p40t847 ROR identifier (05p40t847, Newcastle upon Tyne Hospitals NHS Foundation Trust)
046nvst19https://ror.org/046nvst19 ROR identifier (046nvst19, Norwegian Institute of Public Health)
02v51f717https://ror.org/02v51f717 ROR identifier (02v51f717, Peking University)
04jc43x05https://ror.org/04jc43x05 ROR identifier (04jc43x05, Rechts der Isar Hospital)
03dhz7247https://ror.org/03dhz7247 ROR identifier (03dhz7247, Research Centre for Medical Genetics)
020rzx487https://ror.org/020rzx487 ROR identifier (020rzx487, Sheba Medical Center)
03gd1jf50https://ror.org/03gd1jf50 ROR identifier (03gd1jf50, Shaikh Khalifa Medical City)
02r3e0967https://ror.org/02r3e0967 ROR identifier (02r3e0967, St. Jude Children's Research Hospital)
020jbrt22https://ror.org/020jbrt22 ROR identifier (020jbrt22, Tbilisi State Medical University)
02kkvpp62https://ror.org/02kkvpp62 ROR identifier (02kkvpp62, Technical University of Munich)
04mhzgx49https://ror.org/04mhzgx49 ROR identifier (04mhzgx49, Tel Aviv University)
04tnbqb63https://ror.org/04tnbqb63 ROR identifier (04tnbqb63, The Francis Crick Institute)
01hs8x754https://ror.org/01hs8x754 ROR identifier (01hs8x754, Tygerberg Hospital)
01tmp8f25https://ror.org/01tmp8f25 ROR identifier (01tmp8f25, Universidad Nacional Autónoma de México)
036rp1748https://ror.org/036rp1748 ROR identifier (036rp1748, Universidade de São Paulo)
02k5swt12https://ror.org/02k5swt12 ROR identifier (02k5swt12, Universidade Federal de São Paulo)
052g8jq94https://ror.org/052g8jq94 ROR identifier (052g8jq94, Universitat Autònoma de Barcelona)
02gm5zw39https://ror.org/02gm5zw39 ROR identifier (02gm5zw39, Universitätsklinikum Aachen)
02jx3x895https://ror.org/02jx3x895 ROR identifier (02jx3x895, University College London)
01856cw59https://ror.org/01856cw59 ROR identifier (01856cw59, University Hospital Münster)
01tvm6f46https://ror.org/01tvm6f46 ROR identifier (01tvm6f46, University Hospital Schleswig-Holstein)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
0575yy874https://ror.org/0575yy874 ROR identifier (0575yy874, University Medical Center Utrecht)
00xcryt71https://ror.org/00xcryt71 ROR identifier (00xcryt71, University of Arkansas for Medical Sciences)
03zga2b32https://ror.org/03zga2b32 ROR identifier (03zga2b32, University of Bergen)
041nas322https://ror.org/041nas322 ROR identifier (041nas322, University of Bonn)
013meh722https://ror.org/013meh722 ROR identifier (013meh722, University of Cambridge)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
04mz5ra38https://ror.org/04mz5ra38 ROR identifier (04mz5ra38, University of Duisburg-Essen)
04jr1s763https://ror.org/04jr1s763 ROR identifier (04jr1s763, University of Florence)
0245cg223https://ror.org/0245cg223 ROR identifier (0245cg223, University of Freiburg)
00r1edq15https://ror.org/00r1edq15 ROR identifier (00r1edq15, University of Greifswald)
02zhqgq86https://ror.org/02zhqgq86 ROR identifier (02zhqgq86, University of Hong Kong)
036jqmy94https://ror.org/036jqmy94 ROR identifier (036jqmy94, University of Iowa)
02k3smh20https://ror.org/02k3smh20 ROR identifier (02k3smh20, University of Kentucky)
05rrz2q74https://ror.org/05rrz2q74 ROR identifier (05rrz2q74, University of Kinshasa)
05rk03822https://ror.org/05rk03822 ROR identifier (05rk03822, University of Lagos)
00rzspn62https://ror.org/00rzspn62 ROR identifier (00rzspn62, University of Malaya)
01xtthb56https://ror.org/01xtthb56 ROR identifier (01xtthb56, University of Oslo)
052gg0110https://ror.org/052gg0110 ROR identifier (052gg0110, University of Oxford)
00s6t1f81https://ror.org/00s6t1f81 ROR identifier (00s6t1f81, University of Pavia)
00286hs46https://ror.org/00286hs46 ROR identifier (00286hs46, University of Rwanda)
03a1kwz48https://ror.org/03a1kwz48 ROR identifier (03a1kwz48, University of Tübingen)
032000t02https://ror.org/032000t02 ROR identifier (032000t02, Universität Ulm)
03ba28x55https://ror.org/03ba28x55 ROR identifier (03ba28x55, Vall d'Hebron Hospital Universitari)
036c27j91https://ror.org/036c27j91 ROR identifier (036c27j91, Washington University Medical Center)
SCR_014601https://scicrunch.org/resolver/SCR_014601 SciCrunch identifier (RRID:SCR_014601, ggplot2)
SCR_006437https://scicrunch.org/resolver/SCR_006437 SciCrunch identifier (RRID:SCR_006437, OMIM)
SCR_001905https://scicrunch.org/resolver/SCR_001905 SciCrunch identifier (RRID:SCR_001905, R Project for Statistical Computing)
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2024/05/21/2023.06.06.23290887/DC1/embed/media-1.pdf?download=true Supplemental material
db.gestaltmatcher.org/https://db.gestaltmatcher.org/ Supplemental material (code)
mbexc.de...eases/https://mbexc.de/gestaltmatcher-database-a-global-reference-for-facial-phenotypic-variability-in-rare-human-diseases/ Website entry (mbexc.de)