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View article: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture Open
View article: 20769. IDENTIFICACIÓN DE UNA MUTACIÓN PATOGÉNICA EN ARPP21 EN PACIENTES CON ESCLEROSIS LATERAL AMIOTRÓFICA
20769. IDENTIFICACIÓN DE UNA MUTACIÓN PATOGÉNICA EN ARPP21 EN PACIENTES CON ESCLEROSIS LATERAL AMIOTRÓFICA Open
View article: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture Open
Cilia are essential organelles and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis in animals models but rem…
View article: Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy Open
Neurodevelopmental disorders have been linked to numerous genes, particularly pathogenic variants in genes encoding postsynaptic scaffolding proteins, like SHANK3. This study aims to provide insights into the cardiovascular profile of pati…
View article: Identification of a pathogenic mutation in<i>ARPP21</i>in patients with amyotrophic lateral sclerosis
Identification of a pathogenic mutation in<i>ARPP21</i>in patients with amyotrophic lateral sclerosis Open
Background and objective Between 5% and 10% of amyotrophic lateral sclerosis (ALS) cases have a family history of the disease, 30% of which do not have an identifiable underlying genetic cause after a comprehensive study of the known ALS-r…
View article: Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals Open
View article: Elucidating the clinical and molecular spectrum of<i>SMARCC2</i>-associated NDD in a cohort of 65 affected individuals
Elucidating the clinical and molecular spectrum of<i>SMARCC2</i>-associated NDD in a cohort of 65 affected individuals Open
PURPOSE Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecu…
View article: An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history Open
View article: A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome Open
Cornelia de Lange syndrome (CdLS) is a multisystemic genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, as well as various systemic conditions. It is caused by genetic variants i…
View article: Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 Open
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to…
View article: Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Open
View article: Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases Open
View article: The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy Open
After 26 years of discovery of the determinant survival motor neuron 1 and the modifier survival motor neuron 2 genes (SMN1 and SMN2, respectively), three SMN-dependent specific therapies are already approved by FDA and EMA and, as a conse…
View article: Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review Open
Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary dis…
View article: Beyond copy number: A new, rapid, and versatile method for sequencing the entire <i>SMN2</i> gene in SMA patients
Beyond copy number: A new, rapid, and versatile method for sequencing the entire <i>SMN2</i> gene in SMA patients Open
Spinal muscular atrophy (SMA) is caused by bi-allelic loss or pathogenic variants in the SMN1 gene. SMN2, the highly homologous copy of SMN1, is considered the major phenotypic modifier of the disease. Determination of SMN2 copy number is …
View article: Estado actual de la identificación de restos humanos de víctimas de la Guerra Civil Española y de la posguerra en Cataluña
Estado actual de la identificación de restos humanos de víctimas de la Guerra Civil Española y de la posguerra en Cataluña Open
La genética cumple un papel primordial dentro del proceso de identificación de las víctimas de la Guerra Civil Española y la posguerra. Aquí se realiza un resumen sobre el estado de la cuestión en Cataluña. Son objeto de análisis los resto…
View article: Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome
Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome Open
Skin fibroblasts were obtained from four patients with 7q11.23 microduplication syndrome carrying the reciprocal rearrangement of Williams-Beuren syndrome at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated…
View article: Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)
Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion) Open
Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infecti…
View article: Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy
Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy Open
Our proposed guideline would help to systematically identify discordant SMA cases that warrant further genetic investigation. The SMN2 gene, as the main modifier of SMA phenotype, deserves a more in-depth study to provide more accur…
View article: Defective minor spliceosome <scp>mRNA</scp> processing results in isolated familial growth hormone deficiency
Defective minor spliceosome <span>mRNA</span> processing results in isolated familial growth hormone deficiency Open
View article: Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity Open
View article: TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci Open
Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range of reproductive phenotypes resulting from defects in the specification, migration and/or function of GnRH neurons. To identify additional molecular components of …
View article: <i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features Open
Introduction Pigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for ly…
View article: X-InDels efficacy evaluation in a critical samples paternity case: A Spanish Civil War case from the memorial of the camposines (Tarragona, Spain)
X-InDels efficacy evaluation in a critical samples paternity case: A Spanish Civil War case from the memorial of the camposines (Tarragona, Spain) Open
View article: Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings Open
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (N…
View article: Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome Open
Background The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the pre…
View article: Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond Open
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immun…
View article: bigSCale: an analytical framework for big-scale single-cell data
bigSCale: an analytical framework for big-scale single-cell data Open
Single-cell RNA sequencing (scRNA-seq) has significantly deepened our insights into complex tissues, with the latest techniques capable of processing tens of thousands of cells simultaneously. Analyzing increasing numbers of cells, however…
View article: bigSCale: An Analytical Framework for Big-Scale Single-Cell Data
bigSCale: An Analytical Framework for Big-Scale Single-Cell Data Open
Single-cell RNA sequencing significantly deepened our insights into complex tissues and latest techniques are capable processing ten-thousands of cells simultaneously. With big S Cale , we provide an analytical framework being scalable to …
View article: Provision of Genetic Services for Autism and its Impact on Spanish Families
Provision of Genetic Services for Autism and its Impact on Spanish Families Open