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Employment (1)

CNAG: Barcelona, ES

2022 to present | Clinical Genomics Manager
Employment
Source: Self-asserted source
Leslie Matalonga

Professional activities (1)

Asociación española de genética humana (AEGH): Madrid, ES

2024 | Miembro de la comisión de enfermedades raras
Distinction
Source: Self-asserted source
Leslie Matalonga

Works (50 of 55)

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Page 1 of 2

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Nature medicine
2025-01 | Journal article
Contributors: Laurie S; Steyaert W; de Boer E; Polavarapu K; Schuermans N; Sommer AK; Demidov G; Ellwanger K; Paramonov I; Thomas C et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

NPJ genomic medicine
2024-10 | Journal article
Contributors: Demidov G; Yaldiz B; Garcia-Pelaez J; de Boer E; Schuermans N; Van de Vondel L; Paramonov I; Johansson LF; Musacchia F; Benetti E et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

European journal of human genetics : EJHG
2024-09 | Journal article
Contributors: Estévez-Arias B; Matalonga L; Yubero D; Polavarapu K; Codina A; Ortez C; Carrera-García L; Expósito-Escudero J; Jou C; Meyer S et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.

Pediatric neurology
2024-05 | Journal article
Contributors: Natera-de Benito D; Pugliese A; Polavarapu K; Guergueltcheva V; Tournev I; Todorova A; Afonso Ribeiro J; Fernández-Mayoralas DM; Ortez C; Selcen D
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

2024-05 | Preprint
Contributors: Steyaert W; Sagath L; Demidov G; Yépez VA; Esteve-Codina A; Gagneur J; Ellwanger K; Derks R; Weiss M; den Ouden A et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.

Neuromuscular disorders : NMD
2024-03 | Journal article
Contributors: Polavarapu K; O'Neil D; Thompson R; Spendiff S; Nandeesh B; Vengalil S; Huddar A; Baskar D; Arunachal G; Kotambail A et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

An interconnected data infrastructure to support large-scale rare disease research.

GigaScience
2024-01 | Journal article
Contributors: Johansson LF; Laurie S; Spalding D; Gibson S; Ruvolo D; Thomas C; Piscia D; de Andrade F; Been G; Bijlsma M et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Brain : a journal of neurology
2024-01 | Journal article
Contributors: Polavarapu K; Sunitha B; Töpf A; Preethish-Kumar V; Thompson R; Vengalil S; Nashi S; Bardhan M; Sanka SB; Huddar A et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

Journal of neuromuscular diseases
2024-01 | Journal article
Contributors: Estévez-Arias B; Matalonga L; Martorell L; Codina A; Ortez C; Carrera-García L; Expósito-Escudero J; Yubero D; Hoenicka J; Jou C et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

Journal of neuromuscular diseases
2024-01 | Journal article
Contributors: Olimpio C; Paramonov I; Matalonga L; Laurie S; Schon K; Polavarapu K; Kirschner J; Schara-Schmidt U; Lochmüller H; Chinnery PF et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

European journal of human genetics : EJHG
2023-11 | Journal article
Contributors: Lagorce D; Lebreton E; Matalonga L; Hongnat O; Chahdil M; Piscia D; Paramonov I; Ellwanger K; Köhler S; Robinson P et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

2023-06 | Preprint
Contributors: Lebreton E; Matalonga L; Hongnat O; Chahdil M; Piscia D; Paramonov I; Ellwanger K; Kohler S; Robinson P; Graessner H et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Human genomics
2023-05 | Journal article
Contributors: Yaldiz B; Kucuk E; Hampstead J; Hofste T; Pfundt R; Corominas Galbany J; Rinne T; Yntema HG; Hoischen A; Nelen M et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.

International journal of molecular sciences
2023-03-28 | Journal article
Contributors: Anna Codina Bergada; Monica Roldan-Molina; Daniel Natera-de Benito; Ortez C; Robert Planas; Matalonga L; Daniel Cuadras; Carrera L; JESICA MARIA EXPOSITO ESCUDERO; Marquez J et al.
Source: Self-asserted source
Leslie Matalonga

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14.

HGG advances
2023-03-03 | Journal article
Contributors: Jackson A; Lin SJ; Jones EA; Chandler KE; Orr D; Moss C; Haider Z; Ryan G; Holden S; Harrison M et al.
Source: Self-asserted source
Leslie Matalonga

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics
2023-01-20 | Journal article
Contributors: Anne-Sophie Denommé-Pichon; Matalonga L; de Boer E; Jackson A; Benetti E; Banka S; Bruel AL; Ciolfi A; Clayton-Smith J; Dallapiccola B et al.
Source: Self-asserted source
Leslie Matalonga

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.

Cell genomics
2023-01-11 | Journal article
Contributors: Corvò A; Matalonga L; Spalding D; Senf A; Laurie S; Picó-Amador D; Fernandez-Callejo M; Paramonov I; Romero AF; Garcia-Rios E et al.
Source: Self-asserted source
Leslie Matalonga

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.

Genetics in medicine : official journal of the American College of Medical Genetics
2022-09-22 | Journal article
Contributors: Adriana Rebelo; Ruiz A; Dohrn MF; Wayand M; Farooq A; Danzi MC; Beijer D; Aaron B; Vandrovcova J; Houlden H et al.
Source: Self-asserted source
Leslie Matalonga

Position paper on management of personal data in environment and health research in Europe.

Environment international
2022-06 | Journal article
Contributors: Eva G; Liese G; Stephanie B; Petr H; Leslie M; Roel V; Martine V; Sergi B; Mette H; Sarah J et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

The GA4GH Phenopacket schema defines a computable representation of clinical data.

Nature biotechnology
2022-06-01 | Journal article
Contributors: Julius O. B. Jacobsen; Baudis M; Gareth Baynam; Jacques S Beckmann; Beltran S; Buske OJ; Callahan TJ; Christopher G Chute; Mélanie Courtot; Daniel Danis et al.
Source: Self-asserted source
Leslie Matalonga

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

Human mutation
2022-06-01 | Journal article | Author
Contributors: Steven Laurie; davide piscia; Leslie Matalonga; Alberto Corvo'; Marcos Fernández; Carles Garcia Linares; Carles Hernandez-Ferrer; Cristina Luengo; Inés Martínez Martínez; Anastasios Papakonstantinou et al.
Source: Self-asserted source
Leslie Matalonga

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

The Journal of molecular diagnostics : JMD
2022-05-01 | Journal article
Contributors: Bullich G; Matalonga L; Pujadas M; Anastasios Papakonstantinou; Piscia D; Tonda R; Artuch R; Gallano P; Garrabou G; Gonzalez-Quereda, L et al.
Source: Self-asserted source
Leslie Matalonga

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.

European journal of medical genetics
2022-03-11 | Journal article
Contributors: Anna Katharina Sommer; Iris B.A.W. te Paske; Garcia-Pelaez J; Andreas Laner; Holinski-Feder E; Steinke-Lange V; Peters S; Laura Valle; Spier I; Huntsman D et al.
Source: Self-asserted source
Leslie Matalonga

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.

European journal of medical genetics
2021-12-01 | Journal article
Contributors: de Boer E; Yaldiz B; Anne-Sophie Denommé-Pichon; Matalonga L; Laurie S; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA
Source: Self-asserted source
Leslie Matalonga

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

2021-11 | Preprint
Contributors: Jacobsen JOB; Baudis M; Baynam GS; Beckmann JS; Beltran S; Callahan TJ; Chute CG; Courtot M; Danis D; Elemento O et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Brain
2021-11-17 | Journal article
Part of ISSN: 0006-8950
Part of ISSN: 1460-2156
Source: Self-asserted source
Leslie Matalonga

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report.

European journal of human genetics : EJHG
2021-06-01 | Journal article
Source: Self-asserted source
Leslie Matalonga

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

European journal of human genetics : EJHG
2021-06-01 | Journal article
Source: Self-asserted source
Leslie Matalonga

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).

European journal of human genetics : EJHG
2021-06-01 | Journal article
Source: Self-asserted source
Leslie Matalonga

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

European journal of human genetics : EJHG
2021-06-01 | Journal article
Source: Self-asserted source
Leslie Matalonga

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

European journal of human genetics : EJHG
2021-06-01 | Journal article
Source: Self-asserted source
Leslie Matalonga

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

European journal of human genetics : EJHG
2021-05-10 | Journal article
Source: Self-asserted source
Leslie Matalonga
grade
Preferred source (of 2)‎

ELIXIR-EXCELERATE: establishing Europe's data infrastructure for the life science research of the future.

The EMBO journal
2021-02-09 | Journal article
Source: Self-asserted source
Leslie Matalonga

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

International journal of molecular sciences
2021-02-04 | Journal article
Source: Self-asserted source
Leslie Matalonga

10th Anniversary of the European Association for Predictive, Preventive and Personalised (3P) Medicine - EPMA World Congress Supplement 2020.

The EPMA journal
2020-08-19 | Journal article
Source: Self-asserted source
Leslie Matalonga

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.

Orphanet journal of rare diseases
2020-08-12 | Journal article
Source: Self-asserted source
Leslie Matalonga

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Journal of Neurology
2020-07-12 | Journal article
Part of ISSN: 0340-5354
Part of ISSN: 1432-1459
Source: Self-asserted source
Leslie Matalonga

Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity.

The Journal of molecular diagnostics : JMD
2020-06 | Journal article
Contributors: Matalonga L; Laurie S; Papakonstantinou A; Piscia D; Mereu E; Bullich G; Thompson R; Horvath R; Pérez-Jurado L; Riess O et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Alazami syndrome: the first case of papillary thyroid carcinoma.

Journal of human genetics
2019-10-28 | Journal article
Source: Self-asserted source
Leslie Matalonga

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

2019-05-06 | Journal article
Part of ISSN: 1059-7794
Part of ISSN: 1098-1004
Source: Self-asserted source
Leslie Matalonga

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.

Neuromuscular disorders : NMD
2019-04-10 | Journal article
Source: Self-asserted source
Leslie Matalonga
grade
Preferred source (of 2)‎

ELIXIR Implementation Study End Report: Remote real-time visualization of human rare disease genomics data (RD-Connect) stored at the EGA

Source: Self-asserted source
Leslie Matalonga

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.

Biochimica et biophysica acta
2018-05 | Journal article
Contributors: Guitart-Mampel M; Gonzalez-Tendero A; Niñerola S; Morén C; Catalán-Garcia M; González-Casacuberta I; Juárez-Flores DL; Ugarteburu O; Matalonga L; Cardellach F
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

Neuropediatrics
2018-04 | Journal article
Contributors: Maini I; Farnetti E; Caraffi SG; Ivanovski I; De Bernardi ML; Gelmini C; Pollazzon M; Rosato S; Laurie S; Matalonga L et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein

Mov Disord
2017-04 | Journal article
Source: Self-asserted source
Leslie Matalonga

Small molecules as therapeutic agents for inborn errors of metabolism

Journal of Inherited Metabolic Disease
2017-03 | Journal article
Contributors: Leslie Matalonga; Laura Gort; Antonia Ribes
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Crossref

Exocytosis activating compounds

2016 | Patent
PAT:

13382541.4

Source: Self-asserted source
Leslie Matalonga

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

2016-11 | Journal article
Contributors: Matalonga L; Bravo M; Serra-Peinado C; García-Pelegrí E; Ugarteburu O; Vidal S; Llambrich M; Quintana E; Fuster-Jorge P; Gonzalez-Bravo MN et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

2016-01 | Journal article
Contributors: Ferrer-Cortès X; Narbona J; Bujan N; Matalonga L; Del Toro M; Arranz JA; Riudor E; Garcia-Cazorla A; Jou C; O'Callaghan M et al.
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.

2015-10 | Journal article
Contributors: Matalonga L; Arias Á; Tort F; Ferrer-Cortés X; Garcia-Villoria J; Coll MJ; Gort L; Ribes A
Source: Self-asserted source
Leslie Matalonga via Europe PubMed Central
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