Examinant per Autoria "Matalonga, Leslie"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome(BioMed Central, 2020) Atalaia, Antonio; Corvò, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle
Ítem Accés Obert A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report(Nature Research, 2021) Te Paske, Iris B.A.W.; Garcia-Pelaez, José; Sommer, Anna K.; Matalonga, Leslie; Starzynska, Teresa; Jakubowska, Anna; Solve-RD-GENTURIS group; van der Post, Rachel S.; Lubinski, Jan; Oliveira, Carla; Hoogerbrugge, Nicoline; de Voer, Richarda M.
Ítem Accés Obert A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis(Nature Research, 2021) de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Solve-RD SNV-indel working group; Rodenburg, Richard J.; Coenen, Marieke J.H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Solve-RD-DITF-ITHACA; Trimouille, Aurélien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E.L.M.
Ítem Accés Obert A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing(Elsevier, 2023) Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; Faivre, Laurence
Ítem Accés Obert Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion(Springer, 2020) McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita
Ítem Accés Obert De novo PORCN and ZIC2 mutations in a highly consanguineous family(MDPI, 2021) Castilla-Vallmanya, Laura; Gürsoy, Semra; Bozkaya, Özlem Giray; Prats-Planas, Aina; Bullich, Gemma; Matalonga, Leslie; Centeno-Pla, Mónica; Rabionet Janssen, Raquel; Grinberg, Daniel; Balcells, Susana; Urreizti, Roser
Ítem Accés Obert Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)(Nature Research, 2021) Töpf, Ana; Pyle, Angela; Griffin, Helen; Matalonga, Leslie; Schon, Katherine; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann, Albert; Schara-Schmidt, Ulrike; Hentschel, Andreas; Chinnery, Patrick F.; Kölbel, Heike; Roos, Andreas
Ítem Accés Obert Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant(Elsevier, 2022) Boer, Elke de; Yaldiz, Burcu; Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; Laurie, Steven, 1973-; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA
Ítem Accés Obert High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases(Oxford University Press, 2022) Kurul, Semra Hiz; Matalonga, Leslie; Paramonov, Ida; Laurie, Steven, 1973-; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita
Ítem Accés Obert Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity(Elsevier, 2020) Matalonga, Leslie; Laurie, Steven, 1973-; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis Alberto; Riess, Olaf; Gut, Ivo Glynne; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors
Ítem Accés Obert Innovative computerized dystrophin quantification method based on spectral confocal microscopy(MDPI, 2023) Codina, Anna; Roldán, Mònica; Natera de Benito, Daniel; Ortez, Carlos; Planas, Robert; Matalonga, Leslie; Cuadras, Daniel; Carrera, Laura; Exposito, Jesica; Marquez, Jesus; Jimenez-Mallebrera, Cecilia; Porta, Josep M.; Nascimento, Andrés; Jou-Muñoz, Cristina
Ítem Accés Obert Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report(Nature Research, 2023) Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Köhler, Sebastian; Robinson, Peter N.; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana
Ítem Accés Obert Position paper on management of personal data in environment and health research in Europe(Elsevier, 2022) Govarts, Eva; Gilles, Liese; Bopp, Stephanie; Holub, Petr; Matalonga, Leslie; Vermeulen, Roel; Vrijheid, Martine; Beltran, Sergi; Hartlev, Mette; Jones, Sarah; Rodriguez Martin, Laura; Standaert, Arnout; Swertz, Morris A.; Theunis, Jan; Trier, Xenia; Vogel, Nina; Van Espen, Koert; Remy, Sylvie; Schoeters, Greet
Ítem Accés Obert Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases(Elsevier, 2023) Corvò, Alberto; Matalonga, Leslie; Laurie, Steven, 1973-; Picó-Amador, Daniel; Fernández Callejo, Marcos; Paramonov, Ida; Gut, Ivo Glynne; Piscia, Davide; Beltran, Sergi
Ítem Accés Obert Solving patients with rare diseases through programmatic reanalysis of genome-phenome data(Nature Research, 2021) Matalonga, Leslie; Hernández Ferrer, Carles; Piscia, Davide; Tonda, Raúl; Laurie, Steven, 1973-; Fernández Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou Ntalis, Anastasios; Corvò, Alberto; Joshi, Ricky S.; Diez, Hector; Gut, Ivo Glynne; Beltran, Sergi; Solve-RD Consortium
Ítem Accés Obert Solving unsolved rare neurological diseases-a Solve-RD viewpoint(Springer Nature, 2021) Matalonga, Leslie; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; Solve-RD-DITF-RND; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven, 1973-; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis; Solve-RD Consortium
Ítem Accés Obert Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases(Elsevier, 2022) Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou Ntalis, Anastasios; Piscia, Davide; Tonda, Raúl; González, Juan Ramón; Laurie, Steven, 1973-; Luengo, Cristina; Ovelleiro, David; Parra Farré, Genís; Pérez Jurado, Luis Alberto; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium
Ítem Accés Obert The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases(Wiley, 2022) Laurie, Steven, 1973-; Piscia, Davide; Matalonga, Leslie; Corvò, Alberto; Fernández Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles, 1987-; Luengo, Cristina; Martínez, Inés; Papakonstantinou Ntalis, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Tonda, Raúl; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Pérez Jurado, Luis Alberto; Rambla de Argila, Jordi; Gut, Ivo Glynne; Lochmüller, Hanns; Beltran, Sergi