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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 41529692
DOIDOI 10.1016/j.ajhg.2025.12.007
Publication Year2026
TitleMolecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
JournalAmerican Journal of Human Genetics
ISSN0002-9297
eISSN1537-6605
URL https://doi.org/10.1016/j.ajhg.2025.12.007
Journal AbbreviationAm J Hum Genet
AuthorsDi Donato N, NMA Consortium, Thom A, Rump A, Greve JN, Cadiñanos J, Calabro S, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Hoffjan S, Janzarik WG, Kreimer I, Mancini G, Marin-Reina P, Meinhardt A, Niehaus I, Pilz D, Ricca I, Simarro FS, Schrock E, Marquardt A, Taft MH, Tezcan K, Thunström S, Verhagen J, Verloes A, Wollnik B, Krawitz P, Hsieh T, Seifert M, Heide M, Lawrence CB, Roberts NA, Manstein DJ, Woolf AS, Banka S
First AuthorDi Donato N
Last AuthorBanka S

 External Resources

 scienced...in.pdf  Article fulltext

 ENSG00000075624  Ensembl identifier (ENSG00000075624)

 ENSG00000184009  Ensembl identifier (ENSG00000184009)

 gro-2/157858  GRO.publications identifier

 NM_001101.3  NCBI nucleotide (NM_001101.3, reused)

 NM_001101.5  NCBI nucleotide (NM_001101.5, reused)

 NM_001614.3  NCBI nucleotide (NM_001614.3, reused)

 NM_001614.5  NCBI nucleotide (NM_001614.5, reused)

 9606  NCBI taxonomy (human, Homo sapiens)

 0000-0001-9439-4677  ORCID identifier (Nataliya Di Donato)

 0000-0003-1230-7045  ORCID identifier (Andrew Thom)

 0000-0001-7116-6364  ORCID identifier (Andreas Rump)

 0000-0002-4144-210X  ORCID identifier (Johannes N. Greve)

 0000-0001-7561-7759  ORCID identifier (Juan Cadiñanos)

 0000-0002-5580-7683  ORCID identifier (Sara Cathey)

 0000-0003-0613-8628  ORCID identifier (Maria Costales)

 0000-0002-6750-5615  ORCID identifier (Sara Cuvertino)

 0000-0002-3503-6682  ORCID identifier (Philine Dinkel)

 0000-0002-7684-3982  ORCID identifier (Livia Garavelli)

 0000-0002-3651-1385  ORCID identifier (Wibke Gesine Janzarik)

 0000-0002-1211-9979  ORCID identifier (Grazia Maria Simonetta Mancini)

 0000-0003-3780-2077  ORCID identifier (Purificacion Marin-Reina)

 0000-0002-7484-0841  ORCID identifier (Indra Niehaus)

 0000-0002-2488-3309  ORCID identifier (Daniela Pilz)

 0000-0001-8939-1447  ORCID identifier (Ivana Ricca)

 0000-0002-1201-9118  ORCID identifier (Fernando Santos-Simarro)

 0000-0002-3377-1704  ORCID identifier (Evelin Schröck)

 0009-0004-2145-0120  ORCID identifier (Anja Marquardt)

 0000-0001-5853-8629  ORCID identifier (Manuel H. Taft)

 0000-0003-4268-1345  ORCID identifier (Sofia Thunström)

 0000-0002-0340-3433  ORCID identifier (Judith Verhagen)

 0000-0003-4819-0264  ORCID identifier (Alain Verloes)

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

 0000-0002-3194-8625  ORCID identifier (Peter M. Krawitz)

 0000-0003-3828-4419  ORCID identifier (Tzung-Chien Hsieh)

 0000-0003-3518-6813  ORCID identifier (Neil A. Roberts)

 0000-0003-0763-0147  ORCID identifier (Dietmar Manstein)

 0000-0001-5541-1358  ORCID identifier (Adrian Spencer Woolf)

 000-0002-8527-2210  ORCID identifier (Siddharth Banka)

 1120  Published Data Registry entry (MBExC, preprint)

 2btf  RCSB PDB Identifier (DOI:10.2210/pdb2btf/pdb, reused)

 1/665  Research Data Archive (supplemental material)

 03kk7td41  ROR identifier (03kk7td41, Cardiff University)

 00py81415  ROR identifier (00py81415, Duke University)

 018906e22  ROR identifier (018906e22, Erasmus MC)

 031t5w623  ROR identifier (031t5w623, German Centre for Cardiovascular Research)

 02f99v835  ROR identifier (02f99v835, German Primate Center)

 03p64mj41  ROR identifier (03p64mj41, Greenwood Genetic Center)

 00f2yqf98  ROR identifier (00f2yqf98, Hannover Medical School)

 02dcqy320  ROR identifier (02dcqy320, Hôpital Robert-Debré)

 017bynh47  ROR identifier (017bynh47, Hospital La Paz Institute for Health Research)

 01ar2v535  ROR identifier (01ar2v535, Hospital Universitari i Politècnic La Fe)

 03v85ar63  ROR identifier (03v85ar63, Hospital Universitario Central de Asturias)

 02q404g62  ROR identifier (02q404g62, Kaiser Permanente Sacramento Medical Center)

 01t0n2c80  ROR identifier (01t0n2c80, Klinikum Oldenburg)

 04rrkhs81  ROR identifier (04rrkhs81, Manchester Academic Health Science Centre)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 04y0x0x35  ROR identifier (04y0x0x35, Queen Elizabeth University Hospital)

 04tsk2644  ROR identifier (04tsk2644, Ruhr University Bochum)

 04vgqjj36  ROR identifier (04vgqjj36, Sahlgrenska University Hospital)

 042aqky30  ROR identifier (042aqky30, TU Dresden)

 01xnwqx93  ROR identifier (01xnwqx93, University Hospital Bonn)

 04fgpet95  ROR identifier (04fgpet95, University Hospital of Wales)

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

 0245cg223  ROR identifier (0245cg223, University of Freiburg)

 01tm6cn81  ROR identifier (01tm6cn81, University of Gothenburg)

 02zhqgq86  ROR identifier (02zhqgq86, University of Hong Kong)

 027m9bs27  ROR identifier (027m9bs27, University of Manchester)

 AB_141607  SciCrunch identifier (RRID:AB_141607)

 AB_162543  SciCrunch identifier (RRID:AB_162543)

 AB_355110  SciCrunch identifier (RRID:AB_355110)

 AB_443209  SciCrunch identifier (RRID:AB_443209)

 AB_2222881  SciCrunch identifier (RRID:AB_2222881)

 AB_2313773  SciCrunch identifier (RRID:AB_2313773)

 AB_2338717  SciCrunch identifier (RRID:AB_2338717)

 AB_2338854  SciCrunch identifier (RRID:AB_2338854)

 AB_2535794  SciCrunch identifier (RRID:AB_2535794)

 AB_2535864  SciCrunch identifier (RRID:AB_2535864)

 AB_2571580  SciCrunch identifier (RRID:AB_2571580)

 AB_2571583  SciCrunch identifier (RRID:AB_2571583)

 SCR_015058  SciCrunch identifier (RRID:SCR_015058, bcl2fastq)

 SCR_014583  SciCrunch identifier (RRID:SCR_014583, FastQC)

 SCR_014555  SciCrunch identifier (RRID:SCR_014555, cBioPortal)

 SCR_006169  SciCrunch identifier (RRID:SCR_006169, ClinVar)

 SCR_002344  SciCrunch identifier (RRID:SCR_002344, Ensembl)

 SCR_012919  SciCrunch identifier (RRID:SCR_012919, featureCounts)

 SCR_014964  SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)

 SCR_002798  SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

 SCR_014983  SciCrunch identifier (RRID:SCR_014983, Illumina NextSeq 500)

 SCR_006525  SciCrunch identifier (RRID:SCR_006525, Picard)

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

 SCR_005275  SciCrunch identifier (RRID:SCR_005275, RSeQC)

 SCR_015899  SciCrunch identifier (RRID:SCR_015899, STAR)

 SCR_011847  SciCrunch identifier (RRID:SCR_011847, Trim Galore)

 ars.els-...c1.pdf  Supplemental material

 goeseek.gwdguser.de/studies/264  Supplemental material (goeseek study)

 ars.els-...2.xlsx  Supplemental material (table)

 ars.els-...3.xlsx  Supplemental material (table)

 P60709  UniProt identifier (P60709, reused)

 P63261  UniProt identifier (P63261, reused)

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