Lucia Castiglia
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View article: Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Genetic modifiers and ascertainment drive variable expressivity of complex disorders Open
SUMMARY Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary vari…
View article: Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants Open
View article: Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants Open
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in children. We identified cor…
View article: Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations Open
View article: Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome Open
Background It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a disease gene or its c…
View article: Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders Open
View article: De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms Open
View article: Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder Open
View article: Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Open
View article: Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders Open
Purpose To assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations. Methods We analyzed quan…