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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)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

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

 CVCL_0063  SciCrunch identifier (RRID:CVCL_0063, HEK293T)

 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_012813  SciCrunch identifier (RRID:SCR_012813, SIFT)

 static-c...SM.pdf  Supplemental material

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

 Q110765219  Wikidata ID