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

Year Number of Results
1969 1
1973 1
1976 1
1978 1
1988 1
1993 1
1997 3
1999 1
2000 1
2002 1
2003 4
2004 3
2006 4
2007 6
2008 9
2009 9
2010 9
2011 5
2012 7
2013 12
2014 12
2015 18
2016 17
2017 15
2018 22
2019 22
2020 34
2021 32
2022 29
2023 29
2024 14

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283 results

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Page 1
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: beltran s. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
The autoimmune tautology revisited.
Anaya JM, Beltrán S. Anaya JM, et al. Among authors: beltran s. J Transl Autoimmun. 2023 Jun 16;7:100204. doi: 10.1016/j.jtauto.2023.100204. eCollection 2023 Dec. J Transl Autoimmun. 2023. PMID: 38544807 Free PMC article. No abstract available.
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: beltran s. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 Free PMC article.
Solving the unsolved rare diseases in Europe.
Graessner H, Zurek B, Hoischen A, Beltran S. Graessner H, et al. Among authors: beltran s. Eur J Hum Genet. 2021 Sep;29(9):1319-1320. doi: 10.1038/s41431-021-00924-8. Eur J Hum Genet. 2021. PMID: 34140650 Free PMC article. No abstract available.
Therapeutic news in ALS.
Corcia P, Beltran S, Bakkouche SE, Couratier P. Corcia P, et al. Among authors: beltran s. Rev Neurol (Paris). 2021 May;177(5):544-549. doi: 10.1016/j.neurol.2020.12.003. Epub 2021 Mar 26. Rev Neurol (Paris). 2021. PMID: 33781562 Review.
Treatment of hereditary amyotrophic lateral sclerosis.
Corcia P, Blasco H, Beltran S, Piegay AS, Vourc'h P. Corcia P, et al. Among authors: beltran s. Rev Neurol (Paris). 2023 Jan-Feb;179(1-2):54-60. doi: 10.1016/j.neurol.2022.09.001. Epub 2022 Nov 3. Rev Neurol (Paris). 2023. PMID: 36336493 Review.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: beltran s. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Genetics of amyotrophic lateral sclerosis.
Corcia P, Couratier P, Blasco H, Andres CR, Beltran S, Meininger V, Vourc'h P. Corcia P, et al. Among authors: beltran s. Rev Neurol (Paris). 2017 May;173(5):254-262. doi: 10.1016/j.neurol.2017.03.030. Epub 2017 Apr 25. Rev Neurol (Paris). 2017. PMID: 28449881 Review.
283 results