Giuseppa Maria Luana Mandarà
A5021643182- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- Neonatal Health and Biochemistry
- Digestive system and related health
- Erythrocyte Function and Pathophysiology
- Hemoglobinopathies and Related Disorders
- Neuroblastoma Research and Treatments
- RNA Research and Splicing
- Autism Spectrum Disorder Research
- Protein Kinase Regulation and GTPase Signaling
- Wnt/β-catenin signaling in development and cancer
- Sarcoma Diagnosis and Treatment
- Skin and Cellular Biology Research
- Neurofibromatosis and Schwannoma Cases
University of Ragusa
2023-2024
Azienda Usl 8 Arezzo
2023
SUMMARY Variable expressivity of disease-associated variants implies a role for secondary that modify clinical features. We assessed the effects modifier towards outcomes 2,252 individuals with primary variants. Among 132 families 16p12.1 deletion, distinct rare and common variant classes conferred risk specific developmental features, including short tandem repeats neurological defects SNVs microcephaly, while additional multiple genetic diagnoses. Within disease population cohorts 773 we...
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic genetic patterns in parents associated with risk children. identified correlations between six phenotypes children, including of clinical diagnoses such as obsessive-compulsive disorder (R=0.31-0.49, p<0.001), two measures sub-clinical autism features affecting several severity bi-parental mean Social Responsiveness Scale (SRS) scores proband SRS (regression...
The FOXP subfamily includes four different transcription factors: FOXP1, FOXP2, FOXP3, and FOXP4, all with important roles in regulating gene expression from early development through adulthood. Haploinsufficiency of due to deleterious variants (point mutations, copy number variants) disrupting the gene, leads an emerging disorder known as “FOXP1 syndrome”, mainly characterized by intellectual disability, language impairment, dysmorphic features, multiple congenital abnormalities or without...
Several nuclear genes have been found to be linked ichthyosis, and Next Generation Sequencing approach on panels of targeted has turned out particularly useful in analyzing diseases characterized by significant genetic phenotypic heterogeneity. We developed a panel 26 screened with the Ion Personal Genome Machine (PGM) for causative mutations relating ichthyosis. runs were obtained from patient ichthyosis using Torrent PGM then processed Suite, Variant Caller, Coverage Analysis wANNOVER...