Gerarda Cappuccio to Female
This is a "connection" page, showing publications Gerarda Cappuccio has written about Female.
Connection Strength
0.570
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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: 0.032
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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: 0.029
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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: 0.029
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A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288.
Score: 0.028
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Expansion of the phenotype of lateral meningocele syndrome. Am J Med Genet A. 2020 05; 182(5):1259-1262.
Score: 0.027
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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: 0.026
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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: 0.025
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Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. Acta Paediatr. 2019 01; 108(1):171-172.
Score: 0.025
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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: 0.023
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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: 0.023
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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: 0.021
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Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4.
Score: 0.018
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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: 0.018
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Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review. Am J Med Genet A. 2014 Mar; 164A(3):753-9.
Score: 0.018
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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: 0.018
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.008
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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: 0.008
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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: 0.007
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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: 0.007
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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: 0.007
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068.
Score: 0.007
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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: 0.007
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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: 0.007
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Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 01 07; 108(1):100-114.
Score: 0.007
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.
Score: 0.007
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020 10 01; 11(1):4932.
Score: 0.007
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Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950.
Score: 0.007
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Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Hum Mutat. 2020 10; 41(10):1761-1774.
Score: 0.007
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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: 0.007
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clin Genet. 2020 08; 98(2):172-178.
Score: 0.007
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705.
Score: 0.007
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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: 0.007
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.004
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A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. Am J Med Genet A. 2014 Jan; 164A(1):190-3.
Score: 0.004
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Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? Ital J Pediatr. 2012 Nov 16; 38:65.
Score: 0.004
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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: 0.004