View publication

↩ Back to all publications
Publication
PropertyValue
Working Groups RG Wollnik
SubprojectRA1.1, RA1.2, RA2.1, RA2.2, RA3.1, RA3.2
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 34244665
DOIDOI 10.1038/s41436-021-01260-4
Publication Year2021
TitleBiallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Wikidata
JournalGenetics in Medicine
ISSN1098-3600
eISSN1530-0366
URL http://dx.doi.org/10.1038/s41436-021-01260-4
Journal AbbreviationGenet Med
AuthorsIqbal 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 AuthorIqbal M
Last AuthorYigit G
ScholiaScholia Wikidata-based representation at Scholia

 External Resources

 nature.c...-4.pdf  Article fulltext

 gro-2/88327  GRO.publications identifier

 NM_018928.2  NCBI nucleotide (NM_018928.2, This sequence has been updated: NM_018928.3)

 9606  NCBI taxonomy (human, Homo sapiens)

 300088  OMIM identifier (300088, DEE9)

 609533  OMIM identifier (609533, DFNB23)

 251280  OMIM identifier (251280, DMJDS1)

 605622  OMIM identifier (605622, PCDH12)

 605514  OMIM identifier (605514, PCDH15)

 300460  OMIM identifier (300460, PCDH19)

 606305  OMIM identifier (606305, PCDHGC4)

 602083  OMIM identifier (602083, USH1F)

 0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 0000-0003-2777-0198  ORCID identifier (Gökhan Yigit)

 1/372  Research Data Archive (supplemental material)

 03gd0dm95  ROR identifier (03gd0dm95, Aga Khan University)

 035xkbk20  ROR identifier (035xkbk20, Aix-Marseille University)

 00cdrtq48  ROR identifier (00cdrtq48, Alfaisal University)

 033fqnp11  ROR identifier (033fqnp11, Ankara Bilkent City Hospital)

 03ccx3r49  ROR identifier (03ccx3r49, Centogene (Germany))

 04rxxfz69  ROR identifier (04rxxfz69, Genomics England)

 05k0s5494  ROR identifier (05k0s5494, Children's Hospital at Westmead)

 051zgra59  ROR identifier (051zgra59, Government College University, Faisalabad)

 05jrr4320  ROR identifier (05jrr4320, Hôpital de la Timone)

 00w1xt505  ROR identifier (00w1xt505, Hunter Genetics)

 038cy8j79  ROR identifier (038cy8j79, Imam Abdulrahman Bin Faisal University)

 047w75g40  ROR identifier (047w75g40, International Islamic University, Islamabad)

 05n0wgt02  ROR identifier (05n0wgt02, King Faisal Specialist Hospital & Research Centre)

 02aswte26  ROR identifier (02aswte26, Manchester University)

 04sfka033  ROR identifier (04sfka033, Mashhad University of Medical Sciences)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 01bh91531  ROR identifier (01bh91531, National Institute for Biotechnology and Genetic Engineering)

 04srehp09  ROR identifier (04srehp09, Pakistan Science Foundation)

 035zn2q74  ROR identifier (035zn2q74, Pir Mehr Ali Shah Arid Agriculture University)

 026zzn846  ROR identifier (026zzn846, Queen Mary University of London)

 001x4vz59  ROR identifier (001x4vz59, St Mary's Hospital)

 007a5h107  ROR identifier (007a5h107, Tawam Hospital)

 02jx3x895  ROR identifier (02jx3x895, University College London)

 05mxhda18  ROR identifier (05mxhda18, University Hospital Cologne)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 00rcxh774  ROR identifier (00rcxh774, University of Cologne)

 04cw6st05  ROR identifier (04cw6st05, University of London)

 03c4mmv16  ROR identifier (03c4mmv16, University of Ottawa)

 052gg0110  ROR identifier (052gg0110, University of Oxford)

 01q9mqz67  ROR identifier (01q9mqz67, University of Swat)

 03a1kwz48  ROR identifier (03a1kwz48, University of Tübingen)

 CVCL_0063  SciCrunch identifier (RRID:CVCL_0063, HEK293T)

 SCR_012821  SciCrunch identifier (RRID:SCR_012821, ANNOVAR)

 SCR_001591  SciCrunch identifier (RRID:SCR_001591, Clustal Omega)

 SCR_018393  SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion)

 SCR_002835  SciCrunch identifier (RRID:SCR_002835, ESEfinder)

 SCR_010777  SciCrunch identifier (RRID:SCR_010777, MutationTaster)

 SCR_013189  SciCrunch identifier (RRID:SCR_013189, PolyPhen)

 SCR_000305  SciCrunch identifier (RRID:SCR_000305, PyMOL)

 SCR_001905  SciCrunch identifier (RRID:SCR_001905, R Project for Statistical Computing)

 SCR_012813  SciCrunch identifier (RRID:SCR_012813, SIFT)

 static-c...SM.pdf  Supplemental material

 mbexc.de...alies/  Website entry (mbexc.de)

 Q110765219  Wikidata ID