Marcella Zollino
A5023451940- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Congenital heart defects research
- Neurological diseases and metabolism
- Congenital gastrointestinal and neural anomalies
- Acute Myeloid Leukemia Research
- Chromatin Remodeling and Cancer
- Genomics and Chromatin Dynamics
- Fetal and Pediatric Neurological Disorders
- Genetic Neurodegenerative Diseases
- Prion Diseases and Protein Misfolding
- Parkinson's Disease Mechanisms and Treatments
- Chronic Lymphocytic Leukemia Research
- Hedgehog Signaling Pathway Studies
- Acute Lymphoblastic Leukemia research
- Genetic Syndromes and Imprinting
- Cancer Genomics and Diagnostics
- Advanced biosensing and bioanalysis techniques
- RNA modifications and cancer
- Lymphoma Diagnosis and Treatment
Agostino Gemelli University Polyclinic
2016-2025
Università Cattolica del Sacro Cuore
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2012-2024
Center for Genomic Science
2016-2023
Telethon Institute Of Genetics And Medicine
2023
Erasmus MC
2019
Catholic University of America
2012-2014
Neuroscience Institute
2014
Laboratory of Molecular Genetics
2014
The Neurological Institute
2014
Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression Mendelian randomization were applied a large‐scale, data‐driven manner to explore genetic correlations relationships between >700 phenotypic traits ALS. Exposures consisted of publicly available genome‐wide association studies (GWASes) summary statistics from MR Base LD‐hub . The outcome data came the recently published ALS GWAS...
Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 complex chromosome rearrangements (CCRs) were screened. All cases had been interpreted as "balanced" by conventional cytogenetics. In all, 27 of detected in patients with an abnormal phenotype, after CGH analysis, 11 found to be unbalanced. Thus 40% (11 27) a "chromosomal phenotype" apparently balanced translocation fact unbalanced, 18% (5 the instead >3 breakpoints. Fourteen fetuses novo,...
A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ∼40% familial amyotrophic lateral sclerosis cases European ancestry. The aim current article was describe phenotype carrying by providing detailed clinical description affected from representative multi-generational kindreds, and analysing age onset, gender ratio survival cohort patients with sclerosis. We collected DNA analysed...
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and neuromuscular phenotype. Despite recent advances in understanding the genetic basis MADD, number cases remain unexplained. Here, we report clinically relevant variants FLAD1, which encodes FAD synthase (FADS), as cause MADD dysfunction nine individuals recruited from centers six countries. In most individuals, identified biallelic frameshift...
Baker, Gordon et al. present the first international case series describing neurodevelopmental disorder associated with Synaptotagmin 1 (SYT1) de novo missense mutations. Key features include movement abnormalities, severe intellectual disability, and hallmark EEG alterations. Expression of patients’ SYT1 mutations in mouse neurons disturbs presynaptic vesicle dynamics a mutation-specific manner.
<h3>Objectives:</h3> To quantify the overall contribution of mutations in currently known amyotrophic lateral sclerosis (ALS) genes a large cohort sporadic patients and to make genotype–phenotype correlations. <h3>Methods:</h3> Screening for <i>SOD1</i>, <i>TARDBP</i>, <i>FUS</i>, <i>ANG</i>, <i>ATXN2</i>, <i>OPTN</i>, <i>C9ORF72</i> was carried out 480 consecutive with ALS (SALS) 48 familial (FALS) index admitted single Italian referral center. <h3>Results:</h3> Mutations were detected 53...
Mutations in the gene encoding fused-in-sarcoma (FUS) have been identified a subset of patients with sporadic and familial amyotrophic lateral sclerosis (ALS). Variants 3' untranslated region (3'UTR) FUS also reported ALS patients, but their pathogenic role has not assessed. We sequenced whole 3'UTR 420 who were negative for mutations currently known genes 480 ethnically matched controls. detected four variants (c.*48 G>A, c.*59 c.*108 C>T c.*110 G>A) one compared none controls (P = 0.02).We...
Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. It generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed better delineate phenotype, natural history, genotype-phenotype correlations MWS.In collaborative study, analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described prevalence all aspects,...
Abstract Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with rare neurodevelopmental disorder structural brain anomalies facial dysmorphism. We investigated cohort 10 unrelated participants presenting global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures musculoskeletal abnormalities. MRI revealed complex pattern...
We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or molecular probes apparently normal chromosomes (4 patients). One patient had without detectable deletion within the WHS “critical region.” In each deleted patient, demonstrated to be terminal fluorescence in situ hybridization (FISH). The proximal breakpoint rearrangement established cases with visible...
<h3>Background:</h3> Patients with a microscopically visible deletion of the distal part long arm chromosome 1 have recognisable phenotype, including mental retardation, microcephaly, growth distinct facial appearance and various midline defects corpus callosum abnormalities, cardiac, gastro-oesophageal urogenital defects, as well central nervous system anomalies. submicroscopic, subtelomeric 1qter similar suggesting that main phenotype these patients is caused by haploinsufficiency genes in...
No standard treatment has been defined for metastatic uveal melanoma (mUM). Although clinical trials testing Nivolumab/Pembrolizumab cutaneous did not include mUM, anti PD-1 agents are commonly used this disease.In prospective observational cohort single arm study, we investigated efficacy and safety of Pembrolizumab as first-line therapy mUM. The was evaluated in terms progression-free survival (PFS), response rate overall (OS). Toxicity also assessed.Seventeen patients were enrolled. A...
PurposeMicrocephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and landscape an unselected cohort patients with microcephaly.MethodsWe performed assessment, high-resolution chromosomal microarray analysis, exome sequencing, functional studies in 62 (58% primary microcephaly [PM], 27% secondary [SM], 15% unknown onset).ResultsWe found severity developmental delay/intellectual disability correlating PM,...
AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with have been described, but clinical data are limited and almost all cases involved young children.We present a detailed description of 13 (including six adults) who pathogenic mutation deletion in All were systematically evaluated the same geneticist.All borderline to severe ID/developmental delay, 83-100%...