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The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H. Mora M, et al. Among authors: renieri a. Eur J Hum Genet. 2015 Sep;23(9):1116-23. doi: 10.1038/ejhg.2014.272. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537360 Free PMC article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.
Filocamo M, Baldo C, Goldwurm S, Renieri A, Angelini C, Moggio M, Mora M, Merla G, Politano L, Garavaglia B, Casareto L, Bricarelli FD; Telethon Network of Genetic Biobanks Staff. Filocamo M, et al. Among authors: renieri a. Orphanet J Rare Dis. 2013 Aug 30;8:129. doi: 10.1186/1750-1172-8-129. Orphanet J Rare Dis. 2013. PMID: 24004821 Free PMC article.
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
Livide G, Patriarchi T, Amenduni M, Amabile S, Yasui D, Calcagno E, Lo Rizzo C, De Falco G, Ulivieri C, Ariani F, Mari F, Mencarelli MA, Hell JW, Renieri A, Meloni I. Livide G, et al. Among authors: renieri a. Eur J Hum Genet. 2015 Feb;23(2):195-201. doi: 10.1038/ejhg.2014.81. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916645 Free PMC article.
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.
Frullanti E, Amabile S, Lolli MG, Bartolini A, Livide G, Landucci E, Mari F, Vaccarino FM, Ariani F, Massimino L, Renieri A, Meloni I. Frullanti E, et al. Among authors: renieri a. Eur J Hum Genet. 2016 Feb;24(2):252-7. doi: 10.1038/ejhg.2015.79. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966633 Free PMC article.
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
Baldo C, Casareto L, Renieri A, Merla G, Garavaglia B, Goldwurm S, Pegoraro E, Moggio M, Mora M, Politano L, Sangiorgi L, Mazzotti R, Viotti V, Meloni I, Pellico MT, Barzaghi C, Wang CM, Monaco L, Filocamo M. Baldo C, et al. Among authors: renieri a. Orphanet J Rare Dis. 2016 Oct 24;11(1):142. doi: 10.1186/s13023-016-0527-7. Orphanet J Rare Dis. 2016. PMID: 27776540 Free PMC article.
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.
Benetti E, Tita R, Spiga O, Ciolfi A, Birolo G, Bruselles A, Doddato G, Giliberti A, Marconi C, Musacchia F, Pippucci T, Torella A, Trezza A, Valentino F, Baldassarri M, Brusco A, Asselta R, Bruttini M, Furini S, Seri M, Nigro V, Matullo G, Tartaglia M, Mari F; GEN-COVID Multicenter Study; Renieri A, Pinto AM. Benetti E, et al. Among authors: renieri a. Eur J Hum Genet. 2020 Nov;28(11):1602-1614. doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17. Eur J Hum Genet. 2020. PMID: 32681121 Free PMC article.
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.
Daga S, Fallerini C, Baldassarri M, Fava F, Valentino F, Doddato G, Benetti E, Furini S, Giliberti A, Tita R, Amitrano S, Bruttini M, Meloni I, Pinto AM, Raimondi F, Stella A, Biscarini F, Picchiotti N, Gori M, Pinoli P, Ceri S, Sanarico M, Crawley FP, Birolo G; GEN-COVID Multicenter Study; Renieri A, Mari F, Frullanti E. Daga S, et al. Among authors: renieri a. Eur J Hum Genet. 2021 May;29(5):745-759. doi: 10.1038/s41431-020-00793-7. Epub 2021 Jan 17. Eur J Hum Genet. 2021. PMID: 33456056 Free PMC article. Clinical Trial.
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.
428 results