Gerarda Cappuccio to Transcription Factors
This is a "connection" page, showing publications Gerarda Cappuccio has written about Transcription Factors.
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0.633
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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Mol Genet Genomic Med. 2019 06; 7(6):e682.
Score: 0.302
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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. Am J Med Genet C Semin Med Genet. 2024 Dec; 196(4):e32089.
Score: 0.108
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023 02 23; 14(1):1009.
Score: 0.099
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. Genet Med. 2020 11; 22(11):1838-1850.
Score: 0.083
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020 10 01; 11(1):4932.
Score: 0.021
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Two cases of 16q12.1q21 deletions and refinement of the critical region. Eur J Med Genet. 2020 Jun; 63(6):103878.
Score: 0.020