Gerarda Cappuccio to Infant
This is a "connection" page, showing publications Gerarda Cappuccio has written about Infant.
Connection Strength
0.461
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Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Hum Mutat. 2021 06; 42(6):745-761.
Score: 0.059
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A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288.
Score: 0.056
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Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. 2019 05; 42(3):509-518.
Score: 0.051
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New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr. 2016 Apr 12; 42:39.
Score: 0.042
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Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4.
Score: 0.037
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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. BMC Med Genet. 2014 Jan 28; 15:15.
Score: 0.036
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A clinical and genotype-phenotype analysis of MACF1 variants. Am J Hum Genet. 2025 Oct 02; 112(10):2363-2380.
Score: 0.020
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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nat Commun. 2024 Aug 06; 15(1):6524.
Score: 0.019
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Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. J Clin Endocrinol Metab. 2022 02 17; 107(3):e1136-e1147.
Score: 0.016
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.
Score: 0.015
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.
Score: 0.015
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.
Score: 0.014
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Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950.
Score: 0.014
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 08 03; 29(13):2250-2260.
Score: 0.014
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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020 07; 8(7):594-605.
Score: 0.014
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clin Genet. 2020 08; 98(2):172-178.
Score: 0.014
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RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. Ann Clin Transl Neurol. 2020 01; 7(1):83-93.
Score: 0.013
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.013