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Year Number of Results
1991 1
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2014 4
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34 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: pini v. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
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.
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. Smeets H, et al. Neuromuscul Disord. 2024 Mar;36:16-22. doi: 10.1016/j.nmd.2024.01.001. Epub 2024 Jan 9. Neuromuscul Disord. 2024. PMID: 38306718
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Among authors: pini v. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
GGPS1-associated muscular dystrophy with and without hearing loss.
Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V, Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: pini v. Ann Clin Transl Neurol. 2022 Sep;9(9):1465-1474. doi: 10.1002/acn3.51633. Epub 2022 Jul 23. Ann Clin Transl Neurol. 2022. PMID: 35869884 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.
Necroptosis mediates myofibre death in dystrophin-deficient mice.
Morgan JE, Prola A, Mariot V, Pini V, Meng J, Hourde C, Dumonceaux J, Conti F, Relaix F, Authier FJ, Tiret L, Muntoni F, Bencze M. Morgan JE, et al. Among authors: pini v. Nat Commun. 2018 Sep 7;9(1):3655. doi: 10.1038/s41467-018-06057-9. Nat Commun. 2018. PMID: 30194302 Free PMC article.
Toward a Plasmon-Based Biosensor throughout a Thermoresponsive Hydrogel.
Parra A, Ahumada Ó, Thon A, Pini V, Mingot J, Armelin E, Alemán C, Lanzalaco S. Parra A, et al. Among authors: pini v. ACS Appl Polym Mater. 2024 Nov 1;6(22):13618-13629. doi: 10.1021/acsapm.4c02255. eCollection 2024 Nov 22. ACS Appl Polym Mater. 2024. PMID: 39606251 Free PMC article.
34 results