Cecilia Mancini
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View article: Community Views of Determinants of Men’s Wellbeing in Guatemala: A Study Using Fuzzy Cognitive Mapping
Community Views of Determinants of Men’s Wellbeing in Guatemala: A Study Using Fuzzy Cognitive Mapping Open
Background In post-conflict Guatemala, Indigenous men’s psychological distress has been linked to violence exposure, disrupted social support systems, and structural inequities. Purpose We aimed to document how communities themselves under…
View article: Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency Open
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid and amino acid oxidation with an incidence of 1 in 200,000 live births. MADD has three clinical phenotypes: severe neonatal-onset w…
View article: Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9
Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9 Open
Bardet–Biedl syndrome (BBS) is a rare recessive multisystem disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, cognitive deficits, and genitourinary defects. BBS is clinically variable and genetically heterogen…
View article: Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity Open
View article: Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy Open
The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six families presenting…
View article: Congenital heart defects in <i>CTNNB1</i> syndrome: Raising clinical awareness
Congenital heart defects in <i>CTNNB1</i> syndrome: Raising clinical awareness Open
CTNNB1 [OMIM *116806] encodes β‐catenin, an integral part of the cadherin/catenin complex, which functions as effector of Wnt signaling. CTNNB1 is highly expressed in brain as well as in other tissues, including heart. Heterozygous CTNNB1 …
View article: Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures Open
Objective We aimed to report on previously unappreciated clinical features associated with FOXP1 -related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, intellectual d…
View article: Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot Open
View article: P58 LOW CD38 EXPRESSION BY PLASMA CELLS IN EXTRAMEDULLARY DISEASE IN MULTIPLE MYELOMA PATIENTS
P58 LOW CD38 EXPRESSION BY PLASMA CELLS IN EXTRAMEDULLARY DISEASE IN MULTIPLE MYELOMA PATIENTS Open
Extramedullary disease (EMD) is a possible rare manifestation in multiple myeloma (MM) and it represents an unmet medical need in the treatment of MM patients (pts). Thus a better characterization of plasma cells (PCs) of the EMD is critic…
View article: Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants Open
View article: Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot Open
Fatty acid elongase ELOVL5 is part of a protein family of multipass transmembrane proteins that reside in the endoplasmic reticulum where they regulate long-chain fatty acid elongation. A missense variant (c.689G > T p.Gly230Val) in ELOVL5…
View article: Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly Open
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small number of reported individuals, the clinical phenotype of the disorder has not be…
View article: Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium Open
Inherited retinal degeneration (IRD) represents a clinically variable and genetically heterogeneous group of disorders characterized by photoreceptor dysfunction. These diseases typically present with progressive severe vision loss and var…
View article: Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants Open
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndrome…
View article: Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish Open
View article: Delineation of the clinical profile of <scp><i>CNOT2</i></scp> haploinsufficiency and overview of the <scp>IDNADFS</scp> phenotype
Delineation of the clinical profile of <span><i>CNOT2</i></span> haploinsufficiency and overview of the <span>IDNADFS</span> phenotype Open
CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps…
View article: Dominantly acting <i>KIF5B</i> variants with pleiotropic cellular consequences cause variable clinical phenotypes
Dominantly acting <i>KIF5B</i> variants with pleiotropic cellular consequences cause variable clinical phenotypes Open
Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin…
View article: Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants Open
Objective: The co-occurrence of pathogenic variants has emerged as a relatively common finding underlying complex phenotypes. Here, we used whole-exome sequencing (WES) to solve an unclassified multisystem clinical presentation. Patients a…
View article: Time evaluation and its accuracy in eating disorders: differences in relation to interoceptive awareness
Time evaluation and its accuracy in eating disorders: differences in relation to interoceptive awareness Open
View article: Urinary free cortisol and childhood maltreatments in eating disorder patients: New evidence for an ecophenotype subgroup
Urinary free cortisol and childhood maltreatments in eating disorder patients: New evidence for an ecophenotype subgroup Open
Introduction Increasing neurobiological evidence has suggested the presence of a specific ecophenotype in people with eating disorders (EDs) linked to early maltreatment. Urinary‐free cortisol could strengthen the data and show specific re…
View article: Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature Open
View article: Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss Open
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelate…
View article: Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype Open
Objective, the application of genomic sequencing in clinical practice has allowed us to appreciate the contribution of co-occurring pathogenic variants to complex and unclassified clinical phenotypes. Besides the clinical relevance, these …
View article: KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity Open
The TWIK-related spinal cord potassium channel (TRESK) is encoded by KCNK18, and variants in this gene have previously been associated with susceptibility to familial migraine with aura (MIM #613656). A single amino acid substitution in th…
View article: Non-suicidal self-injury and impulsivity: Study of inibithory control in adolescent population
Non-suicidal self-injury and impulsivity: Study of inibithory control in adolescent population Open
Introduction Non-suicidal self-injury (NSSI) is a clinical condition defined as intentional, self-inflicted act causing pain or superficial damage without suicidal intents (12-35% of the adolescent community). Several findings show a high …
View article: Health-related quality of life assessment in eating disorders: adjustment and validation of a specific scale with the inclusion of an interpersonal domain
Health-related quality of life assessment in eating disorders: adjustment and validation of a specific scale with the inclusion of an interpersonal domain Open
View article: In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients Open
Short term treatment with low doses of glucocorticoid analogues has been shown to ameliorate neurological symptoms in Ataxia–Telangiectasia (A–T), a rare autosomal recessive multisystem disease that mainly affects the cerebellum, immune sy…
View article: Mitochondrial stress response triggered by defects in protein synthesis quality control
Mitochondrial stress response triggered by defects in protein synthesis quality control Open
Mitochondria have a compartmentalized gene expression system dedicated to the synthesis of membrane proteins essential for oxidative phosphorylation. Responsive quality control mechanisms are needed to ensure that aberrant protein synthesi…
View article: Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a <i>de novo RPS19</i> mutation
Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a <i>de novo RPS19</i> mutation Open
Diamond-Blackfan Anaemia (DBA; Mendelian Inheritance in Man reference 105650) is an inherited bone marrow (BM) failure syndrome that, in most cases, shows onset in the first year of life and is characterized by hyporegenerative anaemia, co…
View article: A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants Open