ELIZABETH ROEDER to Transcription Factors
This is a "connection" page, showing publications ELIZABETH ROEDER has written about Transcription Factors.
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Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
Score: 0.061
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.060
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185.
Score: 0.056
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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet. 2010 Aug; 47(8):513-24.
Score: 0.032
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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. 2003 Nov 11; 100(23):13424-9.
Score: 0.021
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A. 2023 08; 191(8):2113-2131.
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Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by C?rcamo et al. 2022. Eur J Med Genet. 2023 02; 66(2):104694.
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med. 2020 02; 22(2):389-397.
Score: 0.015
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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet. 1998 Oct; 20(2):180-3.
Score: 0.015
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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum Mutat. 2017 12; 38(12):1774-1785.
Score: 0.014
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.014