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953 results

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Page 1
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: muntoni f. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
RNA-targeted drugs for neuromuscular diseases.
Ferlini A, Goyenvalle A, Muntoni F. Ferlini A, et al. Among authors: muntoni f. Science. 2021 Jan 1;371(6524):29-31. doi: 10.1126/science.aba4515. Science. 2021. PMID: 33384365 Free article. No abstract available.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1459-1461. doi: 10.1038/s41431-021-00936-4. Eur J Hum Genet. 2021. PMID: 34385672 Free PMC article. No abstract available.
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1462-1465. doi: 10.1038/s41431-021-00935-5. Eur J Hum Genet. 2021. PMID: 34429526 Free PMC article. No abstract available.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: muntoni f. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
953 results