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Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG. Roberts JL, et al. Gene. 2014 Feb 1;535(1):70-8. doi: 10.1016/j.gene.2013.10.020. Epub 2013 Nov 2. Gene. 2014. PMID: 24188901 Free PMC article.
We report our experience with the use of the 105 K and 180K oligonucleotide microarrays in 215 consecutive patients referred with either autism or autism spectrum disorders (ASD) or developmental delay/learning disability for genetic services at the University of Ka …
We report our experience with the use of the 105 K and 180K oligonucleotide microarrays in 215 consecutive patients referred with either aut …
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA, Vanderver A, Lockhart PJ, Helman G, Pope K, Uebergang E, Love C, Delatycki MB, Thorburn D, Mackay MT, Peters H, Kornberg AJ, Patel C, Rodriguez-Casero V, Waak M, Silberstein J, Sinclair A, Nolan M, Field M, Davis MR, Fahey M, Scheffer IE, Freeman JL, Wolf NI, Taft RJ, van der Knaap MS, Simons C, Leventer RJ. Stutterd CA, et al. Eur J Med Genet. 2022 Sep;65(9):104551. doi: 10.1016/j.ejmg.2022.104551. Epub 2022 Jul 5. Eur J Med Genet. 2022. PMID: 35803560
Beyond this group, the causes of genetic white matter disorders are unclear and a broader approach to genomic testing is recommended. ...The other nine genes had not been specifically associated with white matter disease at the time of diagnosis and included genes associat …
Beyond this group, the causes of genetic white matter disorders are unclear and a broader approach to genomic testing is recommended. …
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6. Hum Mol Genet. 2015. PMID: 26443594
We demonstrate that STAG2 is the dosage-sensitive gene within these CNVs, as gains of STAG2 mRNA and protein dysregulate disease-relevant neuronal gene networks in cells derived from affected individuals. ...Overall, we define a novel cohesinopathy due to copy numbe …
We demonstrate that STAG2 is the dosage-sensitive gene within these CNVs, as gains of STAG2 mRNA and protein dysregulate disea …