Publication:

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Date

Date

Date
2017
Journal Article
Published version

Citations

Citation copied

Lehalle, D., Mosca-Boidron, A.-L., Begtrup, A., Boute-Benejean, O., Charles, P., Cho, M. T., Clarkson, A., Devinsky, O., Duffourd, Y., Duplomb-Jego, L., Gérard, B., Jacquette, A., Kuentz, P., Masurel-Paulet, A., McDougall, C., Moutton, S., Olivié, H., Park, S.-M., Rauch, A., … et al. (2017). STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of Medical Genetics, 54, 479–488. https://doi.org/10.1136/jmedgenet-2016-104468

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2 since deposited on 2017-11-13
Acq. date: 2025-11-13

Additional indexing

Creators (Authors)

  • Lehalle, Daphné
    affiliation.icon.alt
  • Mosca-Boidron, Anne-Laure
    affiliation.icon.alt
  • Begtrup, Amber
    affiliation.icon.alt
  • Boute-Benejean, Odile
    affiliation.icon.alt
  • Charles, Perrine
    affiliation.icon.alt
  • Cho, Megan T
    affiliation.icon.alt
  • Clarkson, Amanda
    affiliation.icon.alt
  • Devinsky, Orrin
    affiliation.icon.alt
  • Duffourd, Yannis
    affiliation.icon.alt
  • Duplomb-Jego, Laurence
    affiliation.icon.alt
  • Gérard, Bénédicte
    affiliation.icon.alt
  • Jacquette, Aurélia
    affiliation.icon.alt
  • Kuentz, Paul
    affiliation.icon.alt
  • Masurel-Paulet, Alice
    affiliation.icon.alt
  • McDougall, Carey
    affiliation.icon.alt
  • Moutton, Sébastien
  • Olivié, Hilde
    affiliation.icon.alt
  • Park, Soo-Mi
    affiliation.icon.alt
  • Rauch, Anita
    affiliation.icon.alt
  • Revencu, Nicole
    affiliation.icon.alt
  • Rivière, Jean-Baptiste
    affiliation.icon.alt
  • Rubin, Karol
    affiliation.icon.alt
  • Simonic, Ingrid
    affiliation.icon.alt
  • Shears, Deborah J
    affiliation.icon.alt
  • Smol, Thomas
    affiliation.icon.alt
  • Taylor Tavares, Ana Lisa
    affiliation.icon.alt
  • Terhal, Paulien
    affiliation.icon.alt
  • Thevenon, Julien
    affiliation.icon.alt
  • Van Gassen, Koen
    affiliation.icon.alt
  • Vincent-Delorme, Catherine
    affiliation.icon.alt
  • et al

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
54

Number

Number

Number
7

Page range/Item number

Page range/Item number

Page range/Item number
479

Page end

Page end

Page end
488

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Keywords

Cohesin, Intellectual disability, STAG1, datasharing

Language

Language

Language
English

Publication date

Publication date

Publication date
2017-07

Date available

Date available

Date available
2017-11-13

Publisher

Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
0022-2593

OA Status

OA Status

OA Status
Closed

Free Access at

Free Access at

Free Access at
DOI

PubMed ID

PubMed ID

PubMed ID

Metrics

Views

2 since deposited on 2017-11-13
Acq. date: 2025-11-13

Citations

Citation copied

Lehalle, D., Mosca-Boidron, A.-L., Begtrup, A., Boute-Benejean, O., Charles, P., Cho, M. T., Clarkson, A., Devinsky, O., Duffourd, Y., Duplomb-Jego, L., Gérard, B., Jacquette, A., Kuentz, P., Masurel-Paulet, A., McDougall, C., Moutton, S., Olivié, H., Park, S.-M., Rauch, A., … et al. (2017). STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of Medical Genetics, 54, 479–488. https://doi.org/10.1136/jmedgenet-2016-104468

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