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Page 1
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Among authors: osorio an. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Among authors: osorio an. Am J Hum Genet. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004. Am J Hum Genet. 2019. PMID: 31051109 Free PMC article. No abstract available.
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.
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 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.
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.
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.
Coratti G, Pera MC, Lucibello S, Montes J, Pasternak A, Mayhew A, Glanzman AM, Young SD, Pane M, Scoto M, Messina S, Goemans N, Osorio AN, Pedemonte M, Sansone V, Bertini E, De Vivo DC, Finkel R, Muntoni F, Mercuri E; ISMAC group and collaborators.. Coratti G, et al. Among authors: osorio an. Neuromuscul Disord. 2020 Sep;30(9):756-764. doi: 10.1016/j.nmd.2020.07.005. Epub 2020 Jul 25. Neuromuscul Disord. 2020. PMID: 32900576
Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.
Mercuri E, Osorio AN, Muntoni F, Buccella F, Desguerre I, Kirschner J, Tulinius M, de Resende MBD, Morgenroth LP, Gordish-Dressman H, Johnson S, Kristensen A, Werner C, Trifillis P, Henricson EK, McDonald CM; STRIDE and CINRG DNHS investigators. Mercuri E, et al. Among authors: osorio an. J Neurol. 2023 Sep;270(9):4583. doi: 10.1007/s00415-023-11864-2. J Neurol. 2023. PMID: 37460854 Free PMC article. No abstract available.
24 results