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PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M. Buske OJ, et al. Hum Mutat. 2015 Oct;36(10):931-40. doi: 10.1002/humu.22851. Epub 2015 Aug 31. Hum Mutat. 2015. PMID: 26251998 Free PMC article.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, 't Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S. Laurie S, et al. Among authors: buske oj. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
PhenomeCentral: 7 years of rare disease matchmaking.
Osmond M, Hartley T, Johnstone B, Andjic S, Girdea M, Gillespie M, Buske O, Dumitriu S, Koltunova V, Ramani A, Boycott KM, Brudno M. Osmond M, et al. Among authors: buske o. Hum Mutat. 2022 Jun;43(6):674-681. doi: 10.1002/humu.24348. Epub 2022 Feb 22. Hum Mutat. 2022. PMID: 35165961
The Matchmaker Exchange: a platform for rare disease gene discovery.
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. Philippakis AA, et al. Among authors: buske oj. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858. Hum Mutat. 2015. PMID: 26295439 Free PMC article.
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Driver HG, Hartley T, Price EM, Turinsky AL, Buske OJ, Osmond M, Ramani AK, Kirby E, Kernohan KD, Couse M, Elrick H, Lu K, Mashouri P, Mohan A, So D, Klamann C, Le HGBH, Herscovich A, Marshall CR, Statia A, Canada Consortium CR, Knoppers BM, Brudno M, Boycott KM. Driver HG, et al. Among authors: buske oj. Hum Mutat. 2022 Jun;43(6):800-811. doi: 10.1002/humu.24354. Epub 2022 Mar 9. Hum Mutat. 2022. PMID: 35181971 Free PMC article.
Matchmaker Exchange.
Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL; Matchmaker Exchange Consortium. Sobreira NLM, et al. Among authors: buske oj. Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15. doi: 10.1002/cphg.50. Curr Protoc Hum Genet. 2017. PMID: 29044468 Free PMC article.
27 results