Gerarda Cappuccio to Intellectual Disability
This is a "connection" page, showing publications Gerarda Cappuccio has written about Intellectual Disability.
Connection Strength
5.011
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Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder. Am J Med Genet A. 2022 10; 188(10):3032-3040.
Score: 0.478
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Biallelic variants in CENPF causing a phenotype distinct from Str?mme syndrome. Am J Med Genet C Semin Med Genet. 2022 03; 190(1):102-108.
Score: 0.471
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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: 0.429
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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: 0.416
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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: 0.381
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Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder. Eur J Med Genet. 2017 Dec; 60(12):655-657.
Score: 0.341
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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: 0.309
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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: 0.137
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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: 0.136
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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clin Genet. 2023 08; 104(2):186-197.
Score: 0.126
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Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. Cell Mol Life Sci. 2023 Mar 31; 80(4):110.
Score: 0.125
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Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review. Birth Defects Res. 2022 08 01; 114(13):759-767.
Score: 0.119
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Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Am J Med Genet A. 2022 05; 188(5):1497-1514.
Score: 0.116
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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445.
Score: 0.116
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
Score: 0.115
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ZTTK syndrome: Clinical and molecular findings of?15 cases and a review of the literature. Am J Med Genet A. 2021 12; 185(12):3740-3753.
Score: 0.112
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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. J Med Genet. 2022 05; 59(5):511-516.
Score: 0.111
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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: 0.110
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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: 0.110
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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: 0.108
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.
Score: 0.107
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clin Genet. 2020 08; 98(2):172-178.
Score: 0.103
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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Clin Genet. 2020 06; 97(6):940-942.
Score: 0.102
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Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. Eur J Hum Genet. 2019 08; 27(8):1254-1259.
Score: 0.095
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A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Am J Med Genet A. 2018 02; 176(2):426-430.
Score: 0.087
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Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22. Am J Med Genet A. 2011 Jul; 155A(7):1697-705.
Score: 0.055
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Dominantly acting variants in?ATP6V1C1?and?ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. HGG Adv. 2024 Oct 10; 5(4):100349.
Score: 0.035
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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: 0.034
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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: 0.026