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View article: Computationally resolved neuroprogenitor cell biomarkers associate with human disorders
Computationally resolved neuroprogenitor cell biomarkers associate with human disorders Open
View article: Abstract 1976 Bi-allelic inactivating variants of lactosylceramide synthase B4GALT5 responsible for a novel congenital disorder of glycosylation involving glycosphingolipids
Abstract 1976 Bi-allelic inactivating variants of lactosylceramide synthase B4GALT5 responsible for a novel congenital disorder of glycosylation involving glycosphingolipids Open
View article: Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration Open
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for ‘actionable’ genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), w…
View article: MetaboLINK is a novel algorithm for unveiling cell-specific metabolic pathways in longitudinal datasets
MetaboLINK is a novel algorithm for unveiling cell-specific metabolic pathways in longitudinal datasets Open
Introduction In the rapidly advancing field of ‘omics research, there is an increasing demand for sophisticated bioinformatic tools to enable efficient and consistent data analysis. As biological datasets, particularly metabolomics, become…
View article: Deletion Testing of the <i>DEGS1</i> Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)
Deletion Testing of the <i>DEGS1</i> Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) Open
Hypomyelinating leukodystrophies are a heterogeneous group of disorders characterized by abnormal myelin formation in the central nervous system. Thanks to the increased use of NGS, a growing number of pathogenic single nucleotide variants…
View article: Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function Open
View article: Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement Open
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but r…
View article: Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome Open
View article: Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype
Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype Open
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides‐Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disabi…
View article: Rigor and reproducibility in human brain organoid research: Where we are and where we need to go
Rigor and reproducibility in human brain organoid research: Where we are and where we need to go Open
View article: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor Open
View article: Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome Open
MECP2 Duplication Syndrome (MDS) is a rare, severe neurodevelopmental disorder arising from duplications in the Xq28 region containing the MECP2 gene that predominantly affects males. We generated five human induced pluripotent stem cell (…
View article: Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders Open
Recent studies using cell type-specific knockout mouse models have improved our understanding of the pathophysiological relevance of suppressor of lin-12-like-HMG-CoA reductase degradation 1 (SEL1L-HRD1) endoplasmic reticulum-associated (E…
View article: Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations Open
View article: Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature Open
Sequence-based genetic testing currently identifies causative genetic variants in ∼50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmenta…
View article: OC18.06: Comparing ultrasound evaluation of postpartum pelvic floor dysfunction in supine and standing positions
OC18.06: Comparing ultrasound evaluation of postpartum pelvic floor dysfunction in supine and standing positions Open
Objectives: Mesh repair surgery, compared with native tissue repair, was associated with lower risk of recurrence of prolapse in women with Stage III/IV pelvic organ prolapse (POP).In women with concomitant levator ani muscle (LAM) avulsio…
View article: Mass spectrometry imaging as an emerging tool for studying metabolism in human brain organoids
Mass spectrometry imaging as an emerging tool for studying metabolism in human brain organoids Open
Human brain organoids are emerging models to study human brain development and pathology as they recapitulate the development and characteristics of major neural cell types, and enable manipulation through an in vitro system. Over the past…
View article: <scp>POU3F3</scp> ‐related disorder: Defining the phenotype and expanding the molecular spectrum
<span>POU3F3</span> ‐related disorder: Defining the phenotype and expanding the molecular spectrum Open
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype–phenotype correlations in individuals with POU3F3‐related disorders. We r…
View article: Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening
Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening Open
View article: TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease Open
Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nucl…
View article: CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories Open
View article: De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders Open
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by d…
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Issue Information Open
View article: Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders Open
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been ap…
View article: Postnatal microcephaly and retinal involvement expand the phenotype of <scp><i>RPL10</i></scp>‐related disorder
Postnatal microcephaly and retinal involvement expand the phenotype of <span><i>RPL10</i></span>‐related disorder Open
Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X‐linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenita…
View article: Genotype–phenotype spectrum and correlations in <scp>Xia‐Gibbs</scp> syndrome: Report of five novel cases and literature review
Genotype–phenotype spectrum and correlations in <span>Xia‐Gibbs</span> syndrome: Report of five novel cases and literature review Open
Background Xia‐Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT‐hook DNA‐binding motif‐containing 1 gene ( AHDC1 ), encoding a protein with a crucial role in transcription and epigenetic re…
View article: Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes Open
Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and fac…
View article: Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants Open
Background Postzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA -related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for …
View article: Biallelic variants in <scp><i>CENPF</i></scp> causing a phenotype distinct from Strømme syndrome
Biallelic variants in <span><i>CENPF</i></span> causing a phenotype distinct from Strømme syndrome Open
Biallelic loss‐of‐function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four…
View article: Expanding the phenotype of <scp><i>HNRNPU</i></scp>‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature
Expanding the phenotype of <span><i>HNRNPU</i></span>‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature Open
Pathogenic variants in heterogeneous nuclear ribonucleoprotein U ( HNRNPU) results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants. All p…