Francesca Ariani
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View article: Validation of the NovaSeq6000 Platform and automated library preparation for CE-IVD equivalence
Validation of the NovaSeq6000 Platform and automated library preparation for CE-IVD equivalence Open
The implementation of next-generation sequencing (NGS) technologies in clinical diagnostics requires rigorous validation of sequencing platforms and analytical workflows. In this study, we validated the performance of the Illumina NovaSeq6…
View article: Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations
Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations Open
Background/Objectives: Ischemic arterial stroke (AIS) is a cerebrovascular event that can occur acutely within the first hours or days of life, presenting as a neurological emergency. To date, clearly defined genetic risk factors for AIS h…
View article: Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence
Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence Open
The implementation of next-generation sequencing (NGS) technologies in clinical diagnostics requires rigorous validation of sequencing platforms and analytical workflows. In this study, we validated the performance of the Illumina NovaSeq6…
View article: Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant Open
View article: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant Open
View article: A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death Open
View article: Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors Open
We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy.…
View article: Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review Open
The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 …
View article: Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder Open
View article: Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype Open
[This corrects the article DOI: 10.3389/fgene.2021.761264.].
View article: An explainable model of host genetic interactions linked to COVID-19 severity
An explainable model of host genetic interactions linked to COVID-19 severity Open
View article: Expanding the clinical spectrum associated with the <scp><i>PACS1</i></scp> p.<scp>Arg203Trp</scp> mutational hot‐spot: Two additional Italian patients
Expanding the clinical spectrum associated with the <span><i>PACS1</i></span> p.<span>Arg203Trp</span> mutational hot‐spot: Two additional Italian patients Open
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients
View article: Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder Open
Loss of both alleles in CLN6 causes neuronal ceroid lipofuscinosis, a severe progressive childhood neurological disorder. Our results indicate that heterozygous CLN6 carriers, previously reported as healthy, may be susceptible to bipolar d…
View article: Natural history of KBG syndrome in a large European cohort
Natural history of KBG syndrome in a large European cohort Open
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natur…
View article: SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures Open
Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2 , and SPTBN4 have been associa…
View article: Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder Open
Genetic defects in the SHANK2 gene, encoding for synaptic scaffolding protein, are associated with a variety of neurodevelopmental conditions, including autism spectrum disorders and mild to moderate intellectual disability. Until now, lim…
View article: New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing Open
Intellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with a…
View article: Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype Open
Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phe…
View article: 13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay Open
Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineatin…
View article: Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes Open
In the original article, there was an error. Instead of “Whole Exome Sequencing” we want to change to “Exome Sequencing” throughout the manuscript. A correction has been made to the Title: Exome sequencing in BRCA1-2 candidate familias: th…
View article: Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations Open
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Ex…
View article: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes
Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes Open
Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the BRCA1-2…
View article: <scp> <i>IQSEC2</i> </scp> disorder: A new disease entity or a Rett spectrum continuum?
<span> <i>IQSEC2</i> </span> disorder: A new disease entity or a Rett spectrum continuum? Open
IQSEC2 mutations are associated with IQSEC2 ‐related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype–phenotype relationship fo…
View article: RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report Open
Malignant ovarian germ cell tumors (MOGCTs) are neoplasms of the ovary, of which, due to their rarity and heterogeneity, few is reported about genetic background and development. Here, we report a 18-years old patient diagnosed with an ova…
View article: DNA Methylation in the Diagnosis of Monogenic Diseases
DNA Methylation in the Diagnosis of Monogenic Diseases Open
DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be …
View article: Retinoblastoma (hereditary predisposition)
Retinoblastoma (hereditary predisposition) Open
View article: Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance Open
Highly penetrant variants of BRCA1/2 genes are involved in hereditary predisposition to breast and ovarian cancer. The detection of pathogenic BRCA variants has a considerable clinical impact, allowing appropriate cancer-risk management. H…
View article: Non-collagen genes role in digenic Alport syndrome
Non-collagen genes role in digenic Alport syndrome Open
View article: Evidence of predisposing epimutation in retinoblastoma
Evidence of predisposing epimutation in retinoblastoma Open
Retinoblastoma (RB), which represents the most common childhood eye cancer, is caused by biallelic inactivation of RB1 gene. Promoter hypermethylation is quite frequent in RB tissues but conclusive evidence of soma-wide predisposing epimut…
View article: Expert consensus guidelines for the genetic diagnosis of Alport syndrome
Expert consensus guidelines for the genetic diagnosis of Alport syndrome Open