Gerarda Cappuccio to Male
This is a "connection" page, showing publications Gerarda Cappuccio has written about Male.
Connection Strength
0.612
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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: 0.034
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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: 0.033
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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: 0.033
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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: 0.031
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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: 0.030
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A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288.
Score: 0.029
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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: 0.027
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Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. Mol Genet Genomic Med. 2019 06; 7(6):e708.
Score: 0.027
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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: 0.027
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Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. Acta Paediatr. 2019 01; 108(1):171-172.
Score: 0.026
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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: 0.022
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Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4.
Score: 0.019
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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: 0.019
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Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome? Eur J Med Genet. 2012 Dec; 55(12):705-7.
Score: 0.017
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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: 0.010
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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: 0.010
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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: 0.010
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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: 0.010
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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: 0.010
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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: 0.010
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Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome. Stem Cell Res. 2024 02; 74:103292.
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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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.
Score: 0.008
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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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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: 0.007
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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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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Clin Genet. 2020 06; 97(6):940-942.
Score: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency. Acta Paediatr. 2019 03; 108(3):564-565.
Score: 0.007
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De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. Eur J Hum Genet. 2016 08; 24(9):1359-62.
Score: 0.005
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Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. J Peripher Nerv Syst. 2015 Dec; 20(4):415-8.
Score: 0.005
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Clinical description of a patient carrying the smallest reported deletion involving 10p14 region. Am J Med Genet A. 2012 Apr; 158A(4):832-5.
Score: 0.004