Gerarda Cappuccio to Adolescent
This is a "connection" page, showing publications Gerarda Cappuccio has written about Adolescent.
Connection Strength
0.698
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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: 0.053
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A pilot clinical trial with losartan in Myhre syndrome. Am J Med Genet A. 2021 03; 185(3):702-709.
Score: 0.052
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A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288.
Score: 0.050
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Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder. Eur J Hum Genet. 2019 09; 27(9):1475-1480.
Score: 0.047
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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: 0.046
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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: 0.046
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Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. Acta Paediatr. 2019 01; 108(1):171-172.
Score: 0.045
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Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation. Am J Med Genet A. 2017 Oct; 173(10):2743-2746.
Score: 0.041
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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: 0.038
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Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2014 Jan; 164A(1):182-5.
Score: 0.032
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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: 0.017
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Aug 08; 111(8):1605-1625.
Score: 0.017
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Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants. Am J Med Genet A. 2024 Nov; 194(11):e63713.
Score: 0.017
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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: 0.017
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L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study. Brain. 2024 May 03; 147(5):1653-1666.
Score: 0.016
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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: 0.014
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Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. Eur J Med Genet. 2022 Jan; 65(1):104380.
Score: 0.014
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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature. Eur J Pediatr. 2022 Jan; 181(1):171-187.
Score: 0.014
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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: 0.013
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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: 0.013
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Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series. J Clin Endocrinol Metab. 2021 01 23; 106(2):539-553.
Score: 0.013
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.
Score: 0.013
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Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950.
Score: 0.013
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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: 0.013
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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: 0.013
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RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. Ann Clin Transl Neurol. 2020 01; 7(1):83-93.
Score: 0.012
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. Am J Hum Genet. 2019 08 01; 105(2):283-301.
Score: 0.012
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Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. Gene. 2014 Mar 15; 538(1):69-73.
Score: 0.008