Browsing by Author "Matalonga, Leslie"

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  • Atalaia, Antonio; Corvo, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle (BioMed Central, 2020)
    Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
  • 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. (Nature Research, 2021)
    Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification ...
  • 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. (Nature Research, 2021)
    The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases ...
  • McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita (Springer, 2020)
    Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular ...
  • 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 (MDPI, 2021)
    We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical ...
  • 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 (Nature Research, 2021)
    TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been ...
  • Boer, Elke de; Yaldiz, Burcu; Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; Laurie, Steven, 1973-; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA (Elsevier, 2022)
    Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are ...
  • Kurul, Semra Hiz; Matalonga, Leslie; Paramonov, Ida; Laurie, Steven, 1973-; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita (Oxford University Press, 2021)
    Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and ...
  • Matalonga, Leslie; Laurie, Steven; 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 (Elsevier, 2020)
    Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical genetic studies. More than 2400 exome sequencing data sets were analyzed and screened for autozygosity ...
  • Matalonga, Leslie; Hernández Ferrer, Carles; Piscia, Davide; Tonda, Raúl; Laurie, Steven, 1973-; Fernández Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou Ntalis, Anastasios; Corvó, Alberto; Joshi, Ricky S.; Diez, Hector; Gut, Ivo Glynne; Beltran, Sergi; Solve-RD Consortium (Nature Research, 2021)
    Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and ...
  • 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 (Springer Nature, 2021)
    Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases ...