De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature-Reference-Cited by-同舟云学术

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Published:2020-01-31 Issue:6 Volume:28 Page:770-782
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nambot Sophie, ,Faivre Laurence,Mirzaa Ghayda,Thevenon Julien^ORCID,Bruel Ange-Line,Mosca-Boidron Anne-Laure,Masurel-Paulet Alice,Goldenberg Alice,Le Meur Nathalie,Charollais Aude,Mignot Cyril,Petit Florence^ORCID,Rossi Massimiliano,Metreau Julia,Layet Valérie,Amram Daniel,Boute-Bénéjean Odile,Bhoj Elizabeth,Cousin Margot A.^ORCID,Kruisselbrink Teresa M.,Lanpher Brendan C.,Klee Eric W.,Fiala Elise,Grange Dorothy K.,Meschino Wendy S.,Hiatt Susan M.,Cooper Gregory M.^ORCID,Olivié Hilde,Smith Wendy E.,Dumas Meghan,Lehman Anna,Inglese Cara,Nizon Mathilde^ORCID,Guerrini Renzo,Vetro Annalisa,Kaplan Eitan S.,Miramar Dolores,Van Gils Julien,Fergelot Patricia,Bodamer Olaf,Herkert Johanna C.^ORCID,Pajusalu Sander^ORCID,Õunap Katrin^ORCID,Filiano James J.,Smol Thomas^ORCID,Piton Amélie^ORCID,Gérard Bénédicte,Chantot-Bastaraud Sandra,Bienvenu Thierry^ORCID,Li Dong,Juusola Jane,Devriendt Koen,Bilan Frederic,Poé Charlotte,Chevarin Martin^ORCID,Jouan Thibaud,Tisserant Emilie,Rivière Jean-Baptiste^ORCID,Tran Mau-Them Frédéric,Philippe Christophe,Duffourd Yannis,Dobyns William B.^ORCID,Hevner Robert^ORCID,Thauvin-Robinet Christel

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-020-0571-6.pdf

Reference38 articles.

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3. Méndez-Gómez HR1, Vergaño-Vera E, Abad JL, Bulfone A, Moratalla R, de Pablo F, et al. The T-box brain 1 (Tbr1) transcription factor inhibits astrocyte formation in the olfactory bulb and regulates neural stem cell fate. Mol Cell Neurosci. 2011;46:108–21.

4. Huang TN, Chuang HC, Chou WH, Chen CY, Wang HF, Chou SJ, et al. Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality. Nat Neurosci. 2014;17:240–7.

5. Notwell JH, Heavner WE, Darbandi SF, Katzman S, McKenna WL, Ortiz-Londono CF, et al. TBR1 regulates autism risk genes in the developing neocortex. Genome Res. 2016;26:1013–22.

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