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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 37352860
DOIDOI 10.1016/j.ajhg.2023.06.001
Publication Year2023
TitleNull and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
JournalAmerican Journal of Human Genetics
ISSN0002-9297
eISSN1537-6605
URL https://doi.org/10.1016/j.ajhg.2023.06.001
Pages1068-1085
Issue7
Volume110
Journal AbbreviationAm J Hum Genet
AuthorsGuo L, Salian S, Xue J, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang Y, Wei Z, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM
First AuthorGuo L
Last AuthorCampeau PM

 External Resources

 cell.com...Dtrue#  Article fulltext

 27077  Addgene identifier (27077, reused)

 27078  Addgene identifier (27078, reused)

 27080  Addgene identifier (27080, reused)

 37624  Addgene identifier (37624, reused)

 42230  Addgene identifier (42230, reused)

 gro-2/129327  GRO.publications identifier

 GSE206412  NCBI GEO Dataset (GSE206412)

 GCF_000001405.26  NCBI genome (GCF_000001405.26)

 NM_153332.4  NCBI nucleotide (NM_153332.4, reused)

 10090  NCBI taxonomy (human, Homo sapiens)

 9606  NCBI taxonomy (mouse, Mus musculus)

 608739  OMIM identifier (608739, Exoribonuclease 1; ERI1)

 0000-0002-9660-6941  ORCID identifier (Long Guo)

 0000-0003-4163-4889  ORCID identifier (Smrithi Salian)

 0000-0003-1434-6953  ORCID identifier (Jing-Yi Xue)

 0000-0002-2342-6843  ORCID identifier (Nicola Rath)

 0000-0002-3554-2673  ORCID identifier (Justine Rousseau)

 0000-0002-8340-5980  ORCID identifier (Hyunyun Kim)

 0000-0002-4171-7222  ORCID identifier (Sophie Ehresmann)

 0000-0002-4463-3067  ORCID identifier (Shahida Moosa)

 0009-0001-2543-1216  ORCID identifier (Norio Nakagawa)

 0000-0002-9602-2321  ORCID identifier (Jill Clayton-Smith)

 0000-0002-8527-2210  ORCID identifier (Siddharth Banka)

 0000-0002-3674-3960  ORCID identifier (Adam Jackson)

 0009-0000-6389-2542  ORCID identifier (Irina Hüning)

 0000-0002-5183-780X  ORCID identifier (Theresa Brunet)

 0000-0003-4255-0396  ORCID identifier (Caleb Bupp)

 0000-0001-5322-2983  ORCID identifier (Noriko Miyake)

 0000-0001-9846-6500  ORCID identifier (Naomichi Matsumoto)

 0000-0003-3542-8106  ORCID identifier (Roberto Mendoza-Londono)

 0000-0003-0099-9945  ORCID identifier (Gregory Costain)

 0000-0002-6106-8389  ORCID identifier (Gabriele Hahn)

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

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

 0000-0002-5370-7873  ORCID identifier (Takahiro Yamada)

 0000-0003-0557-230X  ORCID identifier (Gen Nishimura)

 0000-0003-4840-9879  ORCID identifier (K Mark Ansel)

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

 0000-0002-7898-2353  ORCID identifier (Martin Hrabe de Angelis)

 0000-0003-0714-2469  ORCID identifier (Andre Megarbane)

 0000-0001-5664-7987  ORCID identifier (Jill Rosenfeld)

 0000-0002-2263-8545  ORCID identifier (Vigo Heissmeyer)

 0000-0003-0316-2147  ORCID identifier (Shiro Ikegawa)

 0000-0001-9713-7107  ORCID identifier (Philippe M. Campeau)

 02pttbw34  ROR identifier (02pttbw34, Baylor College of Medicine)

 05bxjx840  ROR identifier (05bxjx840, Baylor Genetics)

 042aqky30  ROR identifier (042aqky30, Dresden University of Technology)

 02tbvhh96  ROR identifier (02tbvhh96, First Affiliated Hospital of Xi'an Jiaotong University)

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

 04qq88z54  ROR identifier (04qq88z54, German Center for Diabetes Research)

 034a0hk59  ROR identifier (034a0hk59, Health Innovation Manchester)

 000h6jb29  ROR identifier (000h6jb29, Helmholtz Centre for Environmental Research)

 03js3tm40  ROR identifier (03js3tm40, Institut Jerome Lejeune)

 01605g366  ROR identifier (01605g366, Kyoto City Hospital)

 028vxwa22  ROR identifier (028vxwa22, Kyoto Prefectural University of Medicine)

 00hqkan37  ROR identifier (00hqkan37, Lebanese American University)

 05591te55  ROR identifier (05591te55, Ludwig Maximilian University of Munich)

 00he80998  ROR identifier (00he80998, Manchester University NHS Foundation Trust)

 002pd6e78  ROR identifier (002pd6e78, Massachusetts General Hospital)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 00r9w3j27  ROR identifier (00r9w3j27, National Center for Global Health and Medicine)

 00wydr975  ROR identifier (00wydr975, Northwest Women’s and Children’s Hospital)

 04mb6s476  ROR identifier (04mb6s476, RIKEN Center for Integrative Medical Sciences)

 00smq1v26  ROR identifier (00smq1v26, Saitama Children's Medical Center)

 03aq7kf18  ROR identifier (03aq7kf18, Second Affiliated Hospital of Xi’an Jiaotong University)

 04wex6338  ROR identifier (04wex6338, Sickkids Research Institute)

 05bk57929  ROR identifier (05bk57929, Stellenbosch University)

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

 02kkvpp62  ROR identifier (02kkvpp62, Technical University Munich)

 01hs8x754  ROR identifier (01hs8x754, Tygerberg Hospital)

 04za5zm41  ROR identifier (04za5zm41, University Hospital Carl Gustav Carus)

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

 043mz5j54  ROR identifier (043mz5j54, University of California San Francisco)

 0161xgx34  ROR identifier (0161xgx34, University of Montreal)

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

 00t3r8h32  ROR identifier (00t3r8h32, University of Lübeck)

 03dbr7087  ROR identifier (03dbr7087, University of Toronto)

 04595zj73  ROR identifier (04595zj73, Xi’an Children’s Hospital)

 017zhmm22  ROR identifier (017zhmm22, Xi'an Jiaotong University)

 03k95ve17  ROR identifier (03k95ve17, Yokohama City University Medical Center)

 SCR_004423  SciCrunch identifier (RRID:SCR_004423, Clontech)

 SCR_017980  SciCrunch identifier (RRID:SCR_017980, DNBSEQ-G400 Sequencer)

 SCR_025651  SciCrunch identifier (RRID:SCR_025651, ExpressAnalystR)

 SCR_019878  SciCrunch identifier (RRID:SCR_019878, Faxitron MX-20 Cabinet X-Ray System)

 SCR_002798  SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

 SCR_003070  SciCrunch identifier (RRID:SCR_003070, ImageJ)

 SCR_013517  SciCrunch identifier (RRID:SCR_013517, New England Biolabs)

 SCR_020318  SciCrunch identifier (RRID:SCR_020318, Nikon A1 Confocal Laser Scanning Microscope System)

 SCR_017564  SciCrunch identifier (RRID:SCR_017564, Olympus)

 SCR_006140  SciCrunch identifier (RRID:SCR_006140, R and D Systems)

 SCR_013642  SciCrunch identifier (RRID:SCR_013642, STEMCELL Technologies)

 SCR_008452  SciCrunch identifier (RRID:SCR_008452, Thermo Fisher Scientific)

 SCR_027440  SciCrunch identifier (RRID:SCR_027440, Toyobo)

 cell.com...c1.pdf  Supplemental material

 cell.com...c2.pdf  Supplemental material

 Q8IV48  UniProt Proteome identifier (Q8IV48, reused)

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