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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2005 1
2006 1
2008 2
2009 2
2010 3
2011 7
2012 7
2013 3
2014 3
2015 3
2016 6
2017 5
2018 3
2019 3
2020 4
2022 1
2023 1
2024 0

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45 results

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Page 1
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: attimonelli m. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ. McCormick EM, et al. Among authors: attimonelli m. Hum Mutat. 2020 Dec;41(12):2028-2057. doi: 10.1002/humu.24107. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 32906214 Free PMC article.
Investigating Human Mitochondrial Genomes in Single Cells.
Diroma MA, Varvara AS, Attimonelli M, Pesole G, Picardi E. Diroma MA, et al. Among authors: attimonelli m. Genes (Basel). 2020 May 11;11(5):534. doi: 10.3390/genes11050534. Genes (Basel). 2020. PMID: 32403285 Free PMC article.
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G, Zhang Q, Clima R, Xiao Y, Busch JF, Kilic E, Jung K, Berndt N, Bulik S, Holzhütter HG, Gasparre G, Attimonelli M, Babu M, Meierhofer D. Kürschner G, et al. Among authors: attimonelli m. Oncotarget. 2017 Nov 11;8(62):105882-105904. doi: 10.18632/oncotarget.22413. eCollection 2017 Dec 1. Oncotarget. 2017. PMID: 29285300 Free PMC article.
45 results