A5017232204- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Endoplasmic Reticulum Stress and Disease
- Chromatin Remodeling and Cancer
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Renal and related cancers
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Syndromes and Imprinting
- Williams Syndrome Research
- Epigenetics and DNA Methylation
- Carbohydrate Chemistry and Synthesis
- Neurological diseases and metabolism
- Lysosomal Storage Disorders Research
- Chromosomal and Genetic Variations
- Alzheimer's disease research and treatments
- Gestational Trophoblastic Disease Studies
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2015-2025
Centre for Biomedical Network Research on Rare Diseases
2016-2025
Instituto de Salud Carlos III
2016-2025
Hospital Clínic de Barcelona
2016-2025
Fundació Clínic per a la Recerca Biomèdica
2023-2025
Instituto de Investigación de Enfermedades Raras
2009-2025
Fundació de Recerca Clínic Barcelona-Institut d’Investigacions Biomèdiques August Pi i Sunyer
2023-2024
Universitat de Barcelona
2011-2022
Centro de Investigación Biomédica en Red
2009-2019
Laboratory of Molecular Genetics
2007-2013
Abstract Background Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases highly both genetic environmental factors play an important role in many them. The introduction next generation sequencing (NGS) has lead to the detection variants several diseases. main aim this report is discuss impact advantages implementation NGS diagnosis...
Autism spectrum disorder (ASD) refers to a group of complex neurodevelopmental disorders and is characterized by impaired reciprocal social interaction communication, as well the presence restricted interests stereotyped repetitive behaviors. As disorder, phenotype severity autism are extremely heterogeneous, with differences from one patient another. Chromosome microarray (CMA) fragile X syndrome analyses has been used powerful tool identify new candidate genes for ASD. In present study,...
Abstract Background Aproximately 5–10% of cases mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help uncover cryptic rearrangements X-linked (XLMR) patients. We have constructed an X-chromosome tiling path using bacterial artificial chromosomes (BACs) and validated it samples with cytogenetically defined changes. studied 54 patients idiopathic 20 controls subjects. Results...
Little information is available about the risk of microdeletion and microduplication syndromes in fetal growth restriction (FGR) with a normal karyotype.To assess incremental yield genomic microarray over conventional karyotyping fetuses early restriction.Genomic was prospectively performed defined as weight below 3rd percentile estimated before 32 weeks pregnancy, quantitative fluorescent polymerase chain reaction result. The by rate presenting pathogenic copy number variant 10 Mb.Among 133...
Objectives Fragile-X premutation carriers have been considered asymptomatic patients for a long time. It has been, however, demonstrated that the is also involved in clinical pathology, such as premature ovarian failure, fragile-X-associated tremor/ataxia syndrome, and distinct neurocognitive behavioral phenotype, which includes psychiatric problems. To define better this neuropsychiatric phenotype associated with to minimize possible environmental effect, we examined depressive symptoms 34...
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation future reinterpretation. The Undiagnosed Rare Disease Program Catalonia project collated previously inconclusive good quality (panels, exomes, genomes) standardized phenotypic profiles from 323 families (543 individuals) with...
Objective This document addresses the clinical application of next-generation sequencing (NGS) technologies for prenatal genetic diagnosis and aims to establish practice recommendations in Spain ensure uniformity implementing these into care. Methods A joint committee expert obstetricians geneticists was created review existing literature on fetal NGS make Spanish healthcare professionals. Results guideline summarises technical aspects technologies, indications setting, considerations...
ABSTRACT Objective To assess the frequency of atypical chromosomal and submicroscopic anomalies, as well fetal structural abnormalities, observed on first‐trimester ultrasound scan in fetuses with nuchal translucency (NT) thickness > 99 th centile, order to evaluate suitability using standard cell‐free DNA (cfDNA) testing sole screening test these pregnancies. Methods This was a retrospective cohort study 226 NT centile at 11–14 weeks' gestation, between January 2013 December 2017,...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with FMR1 gene premutation alleles (55-200 CGG repeats). clinical core features include action tremor, gait ataxia, cognitive deficits progressing to dementia, and frequently parkinsonism. Although the pathogenic molecular mechanism of FXTAS not completely understood, restriction phenotype range has given rise model based on RNA toxic gain-of-function. Since identification first...
Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder intellectual disability (ID). Nevertheless, etiology remains elusive close to 50% cases, even those families with multiple affected individuals, strongly hinting at genetic cause. Here we present case report two siblings severe ID other comorbidities, who...