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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.
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study; Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. Nambot S, et al. Among authors: hevner r. 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.
Reply to Hsueh YP et al.
Nambot S, Hevner RF, Dobyns WB. Nambot S, et al. Eur J Hum Genet. 2020 Aug;28(8):999. doi: 10.1038/s41431-020-0622-z. Epub 2020 Apr 9. Eur J Hum Genet. 2020. PMID: 32273581 Free PMC article. No abstract available.
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KPJ, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J; FORGE Canada Consortium; Boycot KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG. Mirzaa G, et al. Nat Genet. 2014 May;46(5):510-515. doi: 10.1038/ng.2948. Epub 2014 Apr 6. Nat Genet. 2014. PMID: 24705253 Free PMC article.
The spectrum of brain malformations and disruptions in twins.
Park KB, Chapman T, Aldinger KA, Mirzaa GM, Zeiger J, Beck A, Glass IA, Hevner RF, Jansen AC, Marshall DA, Oegema R, Parrini E, Saneto RP, Curry CJ, Hall JG, Guerrini R, Leventer RJ, Dobyns WB. Park KB, et al. Among authors: hevner rf. Am J Med Genet A. 2021 Sep;185(9):2690-2718. doi: 10.1002/ajmg.a.61972. Epub 2020 Nov 18. Am J Med Genet A. 2021. PMID: 33205886 Free PMC article.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Alcantara D, et al. Among authors: hevner r. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203. Brain. 2017. PMID: 28969385 Free PMC article.
150 results