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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
Am J Hum Genet. 2017 Aug 3;101(2):267-273. doi: 10.1016/j.ajhg.2017.07.002.
Am J Hum Genet. 2017.
PMID: 28777933
Free PMC article.
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, Daly MJ.
Kosmicki JA, et al.
Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.
Nat Genet. 2017.
PMID: 28191890
Free PMC article.
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UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Sedláčková L, Laššuthová P, Štěrbová K, Haberlová J, Vyhnálková E, Neupauerová J, Staněk D, Šedivá M, Kršek P, Seeman P.
Sedláčková L, et al.
Neuropediatrics. 2019 Feb;50(1):57-60. doi: 10.1055/s-0038-1676288. Epub 2018 Dec 5.
Neuropediatrics. 2019.
PMID: 30517966
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A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS.
Toro C, et al.
Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435.
Hum Mol Genet. 2018.
PMID: 29300972
Free PMC article.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.
Richards S, et al.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
Genet Med. 2015.
PMID: 25741868
Free PMC article.
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