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Page 1
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: matalonga l. Eur J Hum Genet. 2024 Dec 10. doi: 10.1038/s41431-024-01756-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39658675 No abstract available.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: matalonga l. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01699-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333429
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
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.
Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez C, Martorell L, Estévez-Arias B, Matalonga L, Laurie S, Jou C, Lau J, Thompson R, Shen X, Engel AG, Nascimento A, Lochmüller H, Selcen D. Natera-de Benito D, et al. Among authors: matalonga l. Pediatr Neurol. 2024 Aug;157:5-13. doi: 10.1016/j.pediatrneurol.2024.04.027. Epub 2024 May 9. Pediatr Neurol. 2024. PMID: 38833907
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: matalonga l. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H. Polavarapu K, et al. Among authors: matalonga l. Neuromuscul Disord. 2024 Jun;39:10-18. doi: 10.1016/j.nmd.2024.03.011. Epub 2024 Mar 22. Neuromuscul Disord. 2024. PMID: 38669730
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D. Estévez-Arias B, et al. Among authors: matalonga l. J Neuromuscul Dis. 2024;11(3):647-653. doi: 10.3233/JND-230216. J Neuromuscul Dis. 2024. PMID: 38489196 Free PMC article.
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A. Lagorce D, et al. Among authors: matalonga l. Eur J Hum Genet. 2024 Feb;32(2):182-189. doi: 10.1038/s41431-023-01486-7. Epub 2023 Nov 6. Eur J Hum Genet. 2024. PMID: 37926714 Free PMC article.
55 results