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Author Details

Leslie Matalonga
The Barcelona Institute of Science and Technology
2012
30
13
PMIDPaper TitleJournal TitlePublished Year
37926714Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.Eur J Hum Genet2024
37721175Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Brain2024
36681873A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.Genet Med2023
37047330Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.Int J Mol Sci2023
36819661Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.Cell Genom2023
34791078High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.Brain2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
36136088BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.Genet Med2022
34267341Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.Eur J Hum Genet2021
33752678Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.Orphanet J Rare Dis2021
33557041<i>De Novo PORCN</i> and <i>ZIC2</i> Mutations in a Highly Consanguineous Family.Int J Mol Sci2021
34429526Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.Eur J Hum Genet2021
34393220Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.Eur J Hum Genet2021
32787960A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.Orphanet J Rare Dis2020
31656314Alazami syndrome: the first case of papillary thyroid carcinoma.J Hum Genet2020
32656641Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.J Neurol2020
31058414Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.Hum Mutat2019
31040037Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.Neuromuscul Disord2019
29452236Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.Biochim Biophys Acta Gen Subj2018
29642246A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.Neuropediatrics2018
27862579Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.Hum Mutat2017
28436574Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.Mov Disord2017
27966099Small molecules as therapeutic agents for inborn errors of metabolism.J Inherit Metab Dis2017
26688339A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.Mitochondrion2016
26169295Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.Neurotherapeutics2015
24256811Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.Hum Mol Genet2014
24347096Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.J Inherit Metab Dis2014
23118351Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.Hum Mol Genet2013
23179554Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.J Inherit Metab Dis2013
22834902Discovery of a novel noniminosugar acid α glucosidase chaperone series.J Med Chem2012
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National Institutes of Health, National Center for Advancing Translational Sciences
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King Edward Memorial Hospital
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Release 1.2