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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Eur J Hum Genet. 2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31.
Eur J Hum Genet. 2020.
PMID: 32005960
Free PMC article.
Review.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, 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 SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L.
Lehalle D, et al. Among authors: olivie h.
J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24.
J Med Genet. 2017.
PMID: 28119487
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The clinical relevance of intragenic NRXN1 deletions.
Cosemans N, Vandenhove L, Vogels A, Devriendt K, Van Esch H, Van Buggenhout G, Olivié H, de Ravel T, Ortibus E, Legius E, Aerssens P, Breckpot J, R Vermeesch J, Shen S, Fitzgerald J, Gallagher L, Peeters H.
Cosemans N, et al. Among authors: olivie h.
J Med Genet. 2020 May;57(5):347-355. doi: 10.1136/jmedgenet-2019-106448. Epub 2020 Jan 13.
J Med Genet. 2020.
PMID: 31932357
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The medical care of children with autism.
Olivié H.
Olivié H.
Eur J Pediatr. 2012 May;171(5):741-9. doi: 10.1007/s00431-011-1669-1. Epub 2012 Jan 18.
Eur J Pediatr. 2012.
PMID: 22249651
Review.
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