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L. Matalonga · SciRah

Researcher profile · Semantic Scholar

L. Matalonga

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L. Matalonga — researcher profile on SciRah

h-index: 17
Works: 64
Citations: 857

Most-cited papers

The GA4GH Phenopacket schema defines a computable representation of clinical data
Julius O. B. Jacobsen, M. Baudis, Gareth S. Baynam, J. Beckmann +63 more
2022Nature Biotechnology97 citations Open access
Semantic Scholar
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B. Zurek, K. Ellwanger, L. Vissers, R. Schüle +25 more
2021European Journal of Human Genetics88 citations Open access
Semantic Scholar
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
L. Matalonga, C. Hernández-Ferrer, D. Piscia, R. Schüle +17 more
2021European Journal of Human Genetics62 citations Open access
Semantic Scholar
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
S. Laurie, W. Steyaert, Elke de Boer, K. Polavarapu +105 more
2025Nature Medicine60 citations Open access
Semantic Scholar
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
S. Laurie, D. Piscia, L. Matalonga, A. Corvó +48 more
2022Human Mutation58 citations Open access
Semantic Scholar
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Gemma Bullich, L. Matalonga, M. Pujadas, Anastasios Papakonstantinou +22 more
2022Journal of Molecular Diagnostics51 citations Open access
Semantic Scholar
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
W. Steyaert, L. Sagath, G. Demidov, V. Yépez +49 more
2025Genome Research34 citations Open access
Semantic Scholar
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
A. Atalaia, R. Thompson, A. Corvó, L. Carmody +28 more
2020Orphanet Journal of Rare Diseases32 citations Open access
Semantic Scholar
ELIXIR‐EXCELERATE: establishing Europe's data infrastructure for the life science research of the future
J. Harrow, John M. Hancock, N. Blomberg, Søren Brunak +40 more
2021EMBO Journal25 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
A. Rebelo, Ariel Ruiz, M. Dohrn, Melanie Wayand +15 more
2022Genetics in Medicine23 citations Open access
Semantic Scholar
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
K. Polavarapu, Balaraju Sunitha, A. Töpf, V. Preethish-Kumar +22 more
2023Brain : a journal of neurology21 citations Open access
Semantic Scholar
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
S. Kurul, Y. Oktay, A. Töpf, N. Szabó +31 more
2021Brain : a journal of neurology21 citations Open access
Semantic Scholar
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
L. Matalonga, S. Laurie, Anastasios Papakonstantinou, D. Piscia +79 more
2020Journal of Molecular Diagnostics20 citations Open access
Semantic Scholar
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
W. Steyaert, L. Sagath, G. Demidov, V. Yépez +49 more
2024medRxiv18 citations Open access
Semantic Scholar
Small molecules as therapeutic agents for inborn errors of metabolism
L. Matalonga, L. Gort, A. Ribes
2017Journal of Inherited Metabolic Disease18 citations
Semantic Scholar
Alazami syndrome: the first case of papillary thyroid carcinoma
Ivan Ivanovski, S. Caraffi, E. Magnani, S. Rosato +9 more
2019Journal of Human Genetics17 citations
Semantic Scholar
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
A. Töpf, A. Pyle, H. Griffin, L. Matalonga +56 more
2021European Journal of Human Genetics15 citations Open access
Semantic Scholar
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R. Schüle, D. Timmann, C. Erasmus, Jennifer Reichbauer +11 more
2021European Journal of Human Genetics14 citations Open access
Semantic Scholar
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.
S. Saredi, S. Gibertini, L. Matalonga, L. Farina +3 more
2019Neuromuscular Disorders14 citations
Semantic Scholar
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
Julius O. B. Jacobsen, M. Baudis, Gareth S. Baynam, J. Beckmann +43 more
2021medRxiv13 citations Open access
Semantic Scholar
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
D. Lagorce, Emeline Lebreton, L. Matalonga, Oscar Hongnat +11 more
2023European Journal of Human Genetics11 citations Open access
Semantic Scholar
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
G. McMacken, H. Lochmüller, B. Bánsági, A. Pyle +6 more
2020Journal of Neurology11 citations Open access
Semantic Scholar
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
Iris B. A. W. Te Paske, J. Garcia-Pelaez, Anna K. Sommer, L. Matalonga +7 more
2021European Journal of Human Genetics10 citations Open access
Semantic Scholar
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
Catarina Olimpio, I. Paramonov, L. Matalonga, S. Laurie +7 more
2024Journal of Neuromuscular Diseases9 citations Open access
Semantic Scholar
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, C. Ockeloen, L. Matalonga, R. Horvath +11 more
2021European Journal of Human Genetics9 citations Open access
Semantic Scholar
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
B. Estévez-Arias, L. Matalonga, D. Yubero, K. Polavarapu +23 more
2024European Journal of Human Genetics8 citations
Semantic Scholar
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum
Florencia Pérez-Vidarte, B. Estévez-Arias, L. Matalonga, D. Yubero +10 more
2025Annals of Clinical and Translational Neurology7 citations Open access
Semantic Scholar
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project
Christina Saier, S. Sansen, Joanne Berghout, K. Freyler +15 more
2025Orphanet Journal of Rare Diseases7 citations Open access
Semantic Scholar
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus
I. Maini, E. Farnetti, S. Caraffi, Ivan Ivanovski +8 more
2018Neuropediatrics7 citations
Semantic Scholar
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience
Thiloka E. Ratnaike, I. Paramonov, Catarina Olimpio, A. Hoischen +3 more
2025American Journal of Human Genetics6 citations Open access
Semantic Scholar
Advancing the understanding of VAMP1-related congenital myasthenic syndrome: phenotypic insights, favorable response to 3,4-diaminopyridine, and clinical characterization of five new cases
D. Natera-de Benito, Alessia Pugliese, K. Polavarapu, V. Guergueltcheva +17 more
2024Pediatric Neurology6 citations Open access
Semantic Scholar
A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
A. Denommé-Pichon, L. Matalonga, Elke de Boer, A. Jackson +43 more
2023Genetics in Medicine6 citations Open access
Semantic Scholar
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
V. Yépez, G. Demidov, K. Ellwanger, S. Laurie +60 more
2025Nature Genetics5 citations Open access
Semantic Scholar
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.
Sivasankar Malaichamy, Romane Idoux, K. Polavarapu, Katarina Šikić +29 more
2025Brain : a journal of neurology5 citations Open access
Semantic Scholar
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
K. Polavarapu, Daniel O'Neil, Rachel Thompson, S. Spendiff +16 more
2024Neuromuscular Disorders5 citations
Semantic Scholar
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases
A. Corvó, L. Matalonga, D. Spalding, Alexander Senf +19 more
2023Cell Genomics4 citations Open access
Semantic Scholar
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
Anna K. Sommer, Iris B. A. W. Te Paske, J. Garcia-Pelaez, A. Laner +22 more
2022European Journal of Medical Genetics4 citations Open access
Semantic Scholar
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, Aina Prat-Planas +7 more
2021International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
Elke de Boer, B. Yaldiz, A. Denommé-Pichon, L. Matalonga +12 more
2021European Journal of Medical Genetics3 citations Open access
Semantic Scholar
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
B. Estévez-Arias, L. Matalonga, L. Martorell, A. Codina +12 more
2024Journal of Neuromuscular Diseases2 citations Open access
Semantic Scholar
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants
Nelson Martins, M. Terradas, J. Garcia-Pelaez, Anna K. Sommer +31 more
2026JCO Precision Oncology1 citations Open access
Semantic Scholar
SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease
H. Senghor, R. D. Rubio, Carla Marco, A. Salazar-Villacorta +10 more
2025Neurology: Genetics1 citations Open access
Semantic Scholar
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
Thiloka E. Ratnaike, M. Kule, I. Paramonov, L. Matalonga +3 more
2025European Journal of Human Genetics1 citations Open access
Semantic Scholar
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
B. Estévez-Arias, L. Matalonga, D. Yubero, K. Polavarapu +23 more
2024European Journal of Human Genetics1 citations
Semantic Scholar
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
A. Codina, M. Roldán, D. Natera-de Benito, C. Ortez +10 more
2023International Journal of Molecular Sciences1 citations Open access
Semantic Scholar
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, C. Ockeloen, L. Matalonga, R. Horvath +11 more
2021European Journal of Human Genetics1 citations Open access
Semantic Scholar
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, C. Ockeloen, L. Matalonga, R. Horvath +72 more
2021European Journal of Human Genetics1 citations Open access
Semantic Scholar
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R. Schüle, D. Timmann, C. Erasmus, Jennifer Reichbauer +13 more
2021European Journal of Human Genetics1 citations Open access
Semantic Scholar
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
L. Matalonga, C. Hernández-Ferrer, D. Piscia, R. Schüle +17 more
2021European Journal of Human Genetics1 citations Open access
Semantic Scholar

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