45 Matching Annotations
  1. Sep 2024
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a schizophrenia patient with heterozygous 1q21.1 deletion
    1
    1. scibot 17 Sep 2024
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2024.103555

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    sciencedirect.com/science/article/pii/S1873506124002538
  3. Jul 2024
  4. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from an HLA-B27 positive ankylosing spondylitis patient with syndesmophyte formation
    1
    1. scibot 31 Jul 2024
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2024.103508

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    sciencedirect.com/science/article/pii/S187350612400206X
  5. May 2024
  6. www.sciencedirect.com www.sciencedirect.com
    The generation and validation of two NKX2-5 fluorescent reporter human embryonic stem cell lines: UMANe002-A-1 and UMANe002-A-2
    1
    1. scibot 25 May 2024
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2023.103262

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    sciencedirect.com/science/article/pii/S1873506123002489
  7. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line (YUCMi020-A) from peripheral blood mononuclear cells derived from a female with the Jr(a−) blood type
    1
    1. scibot 03 May 2024
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2024.103434

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    sciencedirect.com/science/article/pii/S1873506124001326
  8. Mar 2024
  9. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene
    1
    1. scibot 14 Mar 2024
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2024.103379

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    sciencedirect.com/science/article/pii/S1873506124000771
  10. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (PNUYHi002-A) from a patient with Alzheimer’s disease carrying PRNP M232R variant
    2
    1. scibot 05 Mar 2024
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2024.103361

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    2. scibot 05 Mar 2024
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2024.103361

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    sciencedirect.com/science/article/pii/S187350612400059X
  11. Mar 2023
  12. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant
    1
    1. scibot 18 Mar 2023
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2023.103068

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    sciencedirect.com/science/article/pii/S1873506123000545
  13. Jan 2023
  14. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Attenuating iPSC reprogramming stress with dominant-negative BET peptides
    1
    1. scibot 25 Jan 2023
      RRID:AB_1645539

      DOI: 10.1016/j.isci.2022.105889

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    ncbi.nlm.nih.gov/pmc/articles/PMC9860338/
  15. Aug 2022
  16. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant
    1
    1. scibot 27 Aug 2022
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2022.102903

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    sciencedirect.com/science/article/pii/S1873506122002525
  17. www.sciencedirect.com www.sciencedirect.com
    Establishment of induced pluripotent stem cells from a patient with 16p13.11 duplication and VPS13B deletion
    1
    1. scibot 04 Aug 2022
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2022.102884

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    sciencedirect.com/science/article/pii/S1873506122002331
  18. Jul 2022
  19. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene
    1
    1. scibot 09 Jul 2022
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2022.102856

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    sciencedirect.com/science/article/pii/S1873506122002057
  20. Apr 2022
  21. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C>T (p.Arg707Trp) in MNF2 gene
    1
    1. scibot 14 Apr 2022
      RRID:AB_1645539BioLegend

      DOI: 10.1016/j.scr.2022.102786

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      RRIDCUR:Unresolved RRID:AB_1645539
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    sciencedirect.com/science/article/pii/S1873506122001350
  22. Jul 2021
  23. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a Bardet-Biedl syndrome patient carrying a homologous BBS2 c.534+1G>T mutation
    1
    1. scibot 31 Jul 2021
      RRID:AB_1645539BD

      DOI: 10.1016/j.scr.2021.102480

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    sciencedirect.com/science/article/pii/S1873506121003275
  24. Jun 2021
  25. www.sciencedirect.com www.sciencedirect.com
    Generation of IBMS-iPSC-021, -022, -023 human induced pluripotent stem cells (IBMSi016-A, IBMSi017-A, and IBMSi018-A) derived from patients with the ALDH2 rs671 polymorphism
    1
    1. scibot 11 Jun 2021
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2021.102416

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    sciencedirect.com/science/article/pii/S1873506121002622
  26. www.sciencedirect.com www.sciencedirect.com
    Generation of IBMS-iPSC-015, -016, -017 human induced pluripotent stem cells (IBMSi013-A, IBMSi014-A, and IBMSi015-A) derived from patients with atrial fibrillation
    1
    1. scibot 11 Jun 2021
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2021.102419

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    sciencedirect.com/science/article/pii/S1873506121002658
  27. May 2021
  28. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene
    1
    1. scibot 13 May 2021
      RRID:AB_1645539BioLegend

      DOI: 10.1016/j.scr.2021.102358

      Resource: (BD Biosciences Cat# 560193, RRID:AB_1645539)

      Curator: @Naa003

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      Curator comments: Mouse Anti-Human TRA-1-60 Antigen Monoclonal Antibody, PE Conjugated BD Biosciences Cat# 560193

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      RRIDCUR:SyntaxError RRIDCUR:Unresolved RRID:AB_1645539
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    sciencedirect.com/science/article/pii/S187350612100204X
  29. Feb 2021
  30. www.sciencedirect.com www.sciencedirect.com
    Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene
    1
    1. scibot 25 Feb 2021
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2020.101795

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    sciencedirect.com/science/article/pii/S1873506120300982
  31. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with Ataxia with Oculomotor Apraxia Type 1 (AOA1) harboring a homozygous mutation in the APTX gene
    1
    1. scibot 24 Feb 2021
      RRID:AB_1645539BD

      DOI: 10.1016/j.scr.2020.101925

      Resource: (BD Biosciences Cat# 560193, RRID:AB_1645539)

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      Curator comments: Mouse Anti-Human TRA-1-60 Antigen Monoclonal Antibody, PE Conjugated BD Biosciences Cat# 560193

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      RRID:AB_1645539 RRIDCUR:Unresolved RRIDCUR:SyntaxError
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    sciencedirect.com/science/article/pii/S1873506120302269
  32. www.sciencedirect.com www.sciencedirect.com
    Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C>T) in the CHRNE gene
    1
    1. scibot 24 Feb 2021
      RRID:AB_1645539BD

      DOI: 10.1016/j.scr.2020.101906

      Resource: (BD Biosciences Cat# 560193, RRID:AB_1645539)

      Curator: @Naa003

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      Curator comments: Mouse Anti-Human TRA-1-60 Antigen Monoclonal Antibody, PE Conjugated BD Biosciences Cat# 560193

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      RRID:AB_1645539 RRIDCUR:Unresolved RRIDCUR:SyntaxError
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    sciencedirect.com/science/article/pii/S1873506120302075
  33. www.sciencedirect.com www.sciencedirect.com
    Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi010-A) from a healthy Jordanian female skin dermal fibroblasts
    1
    1. scibot 24 Feb 2021
      RRID:AB_1645539BD

      DOI: 10.1016/j.scr.2020.101891

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      Curator: @ethanbadger

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      RRID:AB_1645539 RRIDCUR:Unresolved RRIDCUR:SyntaxError
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    sciencedirect.com/science/article/pii/S1873506120301926
  34. Jan 2021
  35. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene
    1
    1. scibot 26 Jan 2021
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2021.102190

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    sciencedirect.com/science/article/pii/S1873506121000362
  36. Oct 2020
  37. www.sciencedirect.com www.sciencedirect.com
    Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene
    1
    1. scibot 17 Oct 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2020.102032

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    sciencedirect.com/science/article/pii/S1873506120303330
  38. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-057-05) from a patient with familial parkinsonism and polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1 gene
    1
    1. scibot 16 Oct 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2020.102031

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    sciencedirect.com/science/article/pii/S1873506120303329
  39. Sep 2020
  40. www.sciencedirect.com www.sciencedirect.com
    Generation of a gene corrected human isogenic IBMS-iPSC-014-C from polycystic-kidney-disease induced pluripotent stem cell line using CRISPR/Cas9
    1
    1. scibot 26 Sep 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2020.101784

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      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S1873506120300878
  41. www.sciencedirect.com www.sciencedirect.com
    Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene
    1
    1. scibot 17 Sep 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2020.101795

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    sciencedirect.com/science/article/pii/S1873506120300982
  42. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-048-05) from a patient with ALS and parkinsonism having a hexanucleotide repeat expansion mutation in C9orf72 gene
    1
    1. scibot 13 Sep 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2020.101734

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      RRIDCUR:Validated RRID:AB_1645539
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    sciencedirect.com/science/article/pii/S1873506120300386
  43. Jan 2020
  44. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations
    1
    1. scibot 13 Jan 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2019.101552

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      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S1873506119301825
  45. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 13 Jan 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2019.101422

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      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S1873506119300522
  46. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 12 Jan 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2019.101432

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    sciencedirect.com/science/article/pii/S1873506119300625
  47. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 12 Jan 2020
      RRID:AB_1645539

      DOI: 10.1016/j.scr.2019.101447

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    sciencedirect.com/science/article/pii/S1873506119300777
  48. Nov 2018
  49. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:AB_1645539

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118302435
  50. www.sciencedirect.com www.sciencedirect.com
    Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives
    1
    1. scibot 05 Nov 2018
      AB_1645539

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    sciencedirect.com/science/article/pii/S1873506118301855
  51. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis
    1
    1. scibot 05 Nov 2018
      RRID:AB_1645539

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118301065
  52. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation
    1
    1. scibot 05 Nov 2018
      RRID:AB_1645539

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118300977
  53. www.sciencedirect.com www.sciencedirect.com
    Generation of 2 induced pluripotent stem cell lines derived from patients with Parkinson's disease carrying LRRK2 G2385R variant
    1
    1. scibot 05 Nov 2018
      RRID: AB_1645539

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118300400
  54. www.sciencedirect.com www.sciencedirect.com
    Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with of NEU-1 gene mutation
    1
    1. scibot 05 Nov 2018
      RRID:AB_1645539

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    sciencedirect.com/science/article/pii/S1873506118300333
  55. www.sciencedirect.com www.sciencedirect.com
    Generation of patient-specific induced pluripotent stem cells from Leber's hereditary optic neuropathy
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    1. scibot 05 Nov 2018
      RRID:AB_1645539

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506118300321
  56. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome
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    1. scibot 05 Nov 2018
      RRID:AB_1645539

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506117302726
  57. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    1. scibot 05 Nov 2018
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    sciencedirect.com/science/article/pii/S1873506117302283
  58. www.sciencedirect.com www.sciencedirect.com
    Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation
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    1. scibot 05 Nov 2018
      RRID:AB_1645539

      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1873506117302295
  59. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line, IBMS-iPSC-014-05, from a female autosomal dominant polycystic kidney disease patient carrying a common mutation of R803X in PKD2
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    1. scibot 05 Nov 2018
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    sciencedirect.com/science/article/pii/S1873506117302106
  60. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells from a patient with Parkinson's disease carrying LRRK2 p.I2012T mutation
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    sciencedirect.com/science/article/pii/S1873506117302222
  61. Nov 2017
  62. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1
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    1. scibot 08 Nov 2017
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      Curator: @Jmenke

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    sciencedirect.com/science/article/pii/S1873506117301897
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    Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci
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    1. scibot 08 Nov 2017
      AB_1645539

      Curator: @Zeljana_Babic

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    sciencedirect.com/science/article/pii/S1934590917300887