Leslie Matalonga
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View article: <i>SYNE1</i> Deficiency Manifesting Primarily With Motor Neuron Disease
<i>SYNE1</i> Deficiency Manifesting Primarily With Motor Neuron Disease Open
View article: Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience Open
The diagnosis of mitochondrial DNA (mtDNA) diseases remains challenging with next-generation sequencing, where bioinformatic analysis is usually more focused on the nuclear genome. We developed a workflow for the evaluation of mtDNA diseas…
View article: Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases Open
View article: Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease Open
Background: The genetic diagnosis of mitochondrial disorders is complicated by its genetic and phenotypic complexity. Next generation sequencing techniques have much improved the diagnostic yield for these conditions. A cohort of individua…
View article: Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Open
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilised 10-fold coverage HiFi long-read sequencing (LRS) for detecting causativ…
View article: Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with <i>RYR1</i> -Congenital Myopathy
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with <i>RYR1</i> -Congenital Myopathy Open
Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing and a phenotype-drive…
View article: Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report Open
View article: Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report Open
Rare diseases (RD) have a prevalence of not more than 1/2000 in the European population, and are characterised by the difficulty of obtaining a correct and timely diagnosis. According to Orphanet, 72,5% of RD have a genetic origin although…
View article: Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy Open
Several clinical trials are working on drug development for Duchenne and Becker muscular dystrophy (DMD and BMD) treatment, and, since the expected increase in dystrophin is relatively subtle, high-sensitivity quantification methods are ne…
View article: A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Open
View article: Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases Open
View article: 580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease
580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease Open
Aims Mitochondrial diseases are rare diseases which are phenotypically and genetically heterogeneous. About two thirds of mitochondrial diseases are caused by mitochondrial DNA (mtDNA) variants, the rest by nuclear DNA variants. To improve…
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 RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases Open
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the method…
View article: Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant Open
View article: The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine Open
Despite great strides in the development and wide acceptance of standards for exchanging structured information about genomic variants, there is no corresponding standard for exchanging phenotypic data, and this has impeded the sharing of …
View article: High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases Open
Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A de…
View article: Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint Open
View article: Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data Open
View article: Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Open
View article: Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis Open
View article: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis Open
View article: Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) Open
View article: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Open
View article: A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report Open
View article: Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome Open
View article: A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome Open
View article: Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion 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
Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical genetic studies. More than 2400 exome sequencing data sets were analyzed and screened for autozygosity on the basis of det…
View article: Review for "A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature"
Review for "A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature" Open