Gerarda Cappuccio to Neurodevelopmental Disorders
This is a "connection" page, showing publications Gerarda Cappuccio has written about Neurodevelopmental Disorders.
Connection Strength
2.194
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Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. Acta Paediatr. 2019 01; 108(1):171-172.
Score: 0.433
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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: 0.160
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Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders. J Clin Invest. 2024 Jan 16; 134(2).
Score: 0.156
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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 11; 43(11):1609-1628.
Score: 0.141
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Sci Adv. 2022 08 19; 8(33):eabo7112.
Score: 0.141
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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: 0.136
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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: 0.130
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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: 0.129
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020 10 01; 11(1):4932.
Score: 0.124
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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: 0.122
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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: 0.115
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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: 0.114
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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: 0.113
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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: 0.109
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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: 0.040
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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: 0.031