| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
RA1.1, RA1.2, RA2.1, RA2.2, RA3.1, RA3.2 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
34244665 |
| DOI |
10.1038/s41436-021-01260-4 |
| Publication Year |
2021 |
| Title |
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies |
| Journal |
Genetics in Medicine |
| ISSN |
1098-3600 |
| eISSN |
1530-0366 |
| URL |
http://dx.doi.org/10.1038/s41436-021-01260-4 |
| Journal Abbreviation |
Genet Med |
| Authors |
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S, Ambrose JC, Arumugam P, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IU, Lopez FJ, Maleady-Crowe F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O’Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Thomas ERA, Thompson SR, Tucci A, Walsh E, Welland MJ, Williams E, Witkowska K, Wood SM, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G |
| First Author |
Iqbal M |
| Last Author |
Yigit G |
External Resources
nature.c...-4.pdfhttps://www.nature.com/articles/s41436-021-01260-4.pdf Article fulltext
2/88327https://publications.goettingen-research-online.de/handle/2/88327 GRO.publications identifier
NM_018928.2https://www.ncbi.nlm.nih.gov/nuccore/NM_018928.2 NCBI nucleotide (NM_018928.2, This sequence has been updated: NM_018928.3)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
300088https://www.omim.org/entry/300088 OMIM identifier (300088, DEE9)
609533https://www.omim.org/entry/609533 OMIM identifier (609533, DFNB23)
251280https://www.omim.org/entry/251280 OMIM identifier (251280, DMJDS1)
605622https://www.omim.org/entry/605622 OMIM identifier (605622, PCDH12)
605514https://www.omim.org/entry/605514 OMIM identifier (605514, PCDH15)
300460https://www.omim.org/entry/300460 OMIM identifier (300460, PCDH19)
606305https://www.omim.org/entry/606305 OMIM identifier (606305, PCDHGC4)
602083https://www.omim.org/entry/602083 OMIM identifier (602083, USH1F)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198 ORCID identifier (Gökhan Yigit)
1/372https://mbexc.uni-goettingen.de/archive/1/372 Research Data Archive (supplemental material)
03gd0dm95https://ror.org/03gd0dm95 ROR identifier (03gd0dm95, Aga Khan University)
035xkbk20https://ror.org/035xkbk20 ROR identifier (035xkbk20, Aix-Marseille University)
00cdrtq48https://ror.org/00cdrtq48 ROR identifier (00cdrtq48, Alfaisal University)
033fqnp11https://ror.org/033fqnp11 ROR identifier (033fqnp11, Ankara Bilkent City Hospital)
03ccx3r49https://ror.org/03ccx3r49 ROR identifier (03ccx3r49, Centogene (Germany))
04rxxfz69https://ror.org/04rxxfz69 ROR identifier (04rxxfz69, Genomics England)
05k0s5494https://ror.org/05k0s5494 ROR identifier (05k0s5494, Children's Hospital at Westmead)
051zgra59https://ror.org/051zgra59 ROR identifier (051zgra59, Government College University, Faisalabad)
05jrr4320https://ror.org/05jrr4320 ROR identifier (05jrr4320, Hôpital de la Timone)
00w1xt505https://ror.org/00w1xt505 ROR identifier (00w1xt505, Hunter Genetics)
038cy8j79https://ror.org/038cy8j79 ROR identifier (038cy8j79, Imam Abdulrahman Bin Faisal University)
047w75g40https://ror.org/047w75g40 ROR identifier (047w75g40, International Islamic University, Islamabad)
05n0wgt02https://ror.org/05n0wgt02 ROR identifier (05n0wgt02, King Faisal Specialist Hospital & Research Centre)
02aswte26https://ror.org/02aswte26 ROR identifier (02aswte26, Manchester University)
04sfka033https://ror.org/04sfka033 ROR identifier (04sfka033, Mashhad University of Medical Sciences)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
01bh91531https://ror.org/01bh91531 ROR identifier (01bh91531, National Institute for Biotechnology and Genetic Engineering)
04srehp09https://ror.org/04srehp09 ROR identifier (04srehp09, Pakistan Science Foundation)
035zn2q74https://ror.org/035zn2q74 ROR identifier (035zn2q74, Pir Mehr Ali Shah Arid Agriculture University)
026zzn846https://ror.org/026zzn846 ROR identifier (026zzn846, Queen Mary University of London)
001x4vz59https://ror.org/001x4vz59 ROR identifier (001x4vz59, St Mary's Hospital)
007a5h107https://ror.org/007a5h107 ROR identifier (007a5h107, Tawam Hospital)
02jx3x895https://ror.org/02jx3x895 ROR identifier (02jx3x895, University College London)
05mxhda18https://ror.org/05mxhda18 ROR identifier (05mxhda18, University Hospital Cologne)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
04cw6st05https://ror.org/04cw6st05 ROR identifier (04cw6st05, University of London)
03c4mmv16https://ror.org/03c4mmv16 ROR identifier (03c4mmv16, University of Ottawa)
052gg0110https://ror.org/052gg0110 ROR identifier (052gg0110, University of Oxford)
01q9mqz67https://ror.org/01q9mqz67 ROR identifier (01q9mqz67, University of Swat)
03a1kwz48https://ror.org/03a1kwz48 ROR identifier (03a1kwz48, University of Tübingen)
CVCL_0063https://scicrunch.org/resolver/CVCL_0063 SciCrunch identifier (RRID:CVCL_0063, HEK293T)
SCR_012821https://scicrunch.org/resolver/SCR_012821 SciCrunch identifier (RRID:SCR_012821, ANNOVAR)
SCR_001591https://scicrunch.org/resolver/SCR_001591 SciCrunch identifier (RRID:SCR_001591, Clustal Omega)
SCR_018393https://scicrunch.org/resolver/SCR_018393 SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion)
SCR_002835https://scicrunch.org/resolver/SCR_002835 SciCrunch identifier (RRID:SCR_002835, ESEfinder)
SCR_010777https://scicrunch.org/resolver/SCR_010777 SciCrunch identifier (RRID:SCR_010777, MutationTaster)
SCR_013189https://scicrunch.org/resolver/SCR_013189 SciCrunch identifier (RRID:SCR_013189, PolyPhen)
SCR_000305https://scicrunch.org/resolver/SCR_000305 SciCrunch identifier (RRID:SCR_000305, PyMOL)
SCR_001905https://scicrunch.org/resolver/SCR_001905 SciCrunch identifier (RRID:SCR_001905, R Project for Statistical Computing)
SCR_012813https://scicrunch.org/resolver/SCR_012813 SciCrunch identifier (RRID:SCR_012813, SIFT)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41436-021-01260-4/MediaObjects/41436_2021_1260_MOESM1_ESM.pdf Supplemental material
mbexc.de...alies/https://mbexc.de/biallelic-variants-in-pcdhgc4-cause-a-novel-neurodevelopmental-syndrome-with-progressive-microcephaly-seizures-and-joint-anomalies/ Website entry (mbexc.de)
Q110765219https://www.wikidata.org/wiki/Q110765219 Wikidata ID