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

scientific article published on 24 January 2017

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1136/JMEDGENET-2016-104468
P698PubMed publication ID28119487

P50authorAnita RauchQ21253643
Laurence FaivreQ28323110
Christel Thauvin-RobinetQ30170312
Thomas SmolQ53311235
Paul KuentzQ54218263
Julien ThevenonQ55221583
Koen Van GassenQ56481396
Christiane ZweierQ56753445
Daphné LehalleQ58509366
Patrick CallierQ91816429
Marjolein H WillemsenQ96306657
Alice Masurel-PauletQ125294693
P2093author name stringNicole Revencu
Jean-Baptiste Rivière
Orrin Devinsky
Amber Begtrup
Megan T Cho
Perrine Charles
Odile Boute-Benejean
Elaine Zackai
Catherine Vincent-Delorme
Soo-Mi Park
Bénédicte Gérard
Paulien Terhal
Anne-Laure Mosca-Boidron
Aurélia Jacquette
Ingrid Simonic
Golder N Wilson
Carey McDougall
Karol Rubin
Sébastien Moutton
Yannis Duffourd
Deborah J Shears
Ana Lisa Taylor Tavares
Laurence Duplomb-Jego
Hilde Olivié
Amanda Clarkson
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectdisabilityQ12131
data sharingQ5227350
cohesinopathyQ106526620
P304page(s)479-488
P577publication date2017-01-24
P1433published inJournal of Medical GeneticsQ14640281
P1476titleSTAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
P478volume54

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cites work (P2860)
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Q99711065Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
Q50420591MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
Q90024357Stromalin Constrains Memory Acquisition by Developmentally Limiting Synaptic Vesicle Pool Size