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Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: santoyo lopez j. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: santoyo lopez j. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. PMID: 37873269 Free PMC article. Preprint.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM, Weerakkody RA, Parry DA, Kanonidou C, Toddie-Moore DJ, Vandrovcova J, Darlay R, Santoyo-Lopez J, Meynert A; NIHR BioResource; Kazkaz H, Grahame R, Cummings C, Bartlett M, Ghali N, Brady AF, Pope FM, van Dijk FS, Cordell HJ, Aitman TJ. Vandersteen AM, et al. Among authors: santoyo lopez j. J Med Genet. 2024 Feb 21;61(3):232-238. doi: 10.1136/jmg-2023-109329. J Med Genet. 2024. PMID: 37813462 Free article.
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Among authors: santoyo lopez j. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
Selective miRNA inhibition in CD8+ cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses.
Madrid-Elena N, Serrano-Villar S, Gutiérrez C, Sastre B, Morín M, Luna L, Martín L, Santoyo-López J, López-Huertas MR, Moreno E, García-Bermejo ML, Moreno-Pelayo MÁ, Moreno S. Madrid-Elena N, et al. Among authors: santoyo lopez j. Front Immunol. 2022 Sep 26;13:998368. doi: 10.3389/fimmu.2022.998368. eCollection 2022. Front Immunol. 2022. PMID: 36225912 Free PMC article.
Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney.
Dulias K, Foody MGB, Justeau P, Silva M, Martiniano R, Oteo-García G, Fichera A, Rodrigues S, Gandini F, Meynert A, Donnelly K, Aitman TJ; Scottish Genomes Partnership; Chamberlain A, Lelong O, Kozikowski G, Powlesland D, Waddington C, Mattiangeli V, Bradley DG, Bryk J, Soares P, Wilson JF, Wilson G, Moore H, Pala M, Edwards CJ, Richards MB. Dulias K, et al. Proc Natl Acad Sci U S A. 2022 Feb 22;119(8):e2108001119. doi: 10.1073/pnas.2108001119. Proc Natl Acad Sci U S A. 2022. PMID: 35131896 Free PMC article.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A; Scottish Genomes Partnership; Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP; Members of the Scottish Genome Partnership include. Parry DA, et al. Genes Dev. 2020 Nov 1;34(21-22):1520-1533. doi: 10.1101/gad.340190.120. Epub 2020 Oct 15. Genes Dev. 2020. PMID: 33060134 Free PMC article.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium; Carracedo Á, Alonso Á, Dopazo J. Peña-Chilet M, et al. Among authors: santoyo lopez j. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137. doi: 10.1093/nar/gkaa794. Nucleic Acids Res. 2021. PMID: 32990755 Free PMC article.
Pervasive lesion segregation shapes cancer genome evolution.
Aitken SJ, Anderson CJ, Connor F, Pich O, Sundaram V, Feig C, Rayner TF, Lukk M, Aitken S, Luft J, Kentepozidou E, Arnedo-Pac C, Beentjes SV, Davies SE, Drews RM, Ewing A, Kaiser VB, Khamseh A, López-Arribillaga E, Redmond AM, Santoyo-Lopez J, Sentís I, Talmane L, Yates AD; Liver Cancer Evolution Consortium; Semple CA, López-Bigas N, Flicek P, Odom DT, Taylor MS. Aitken SJ, et al. Among authors: santoyo lopez j. Nature. 2020 Jul;583(7815):265-270. doi: 10.1038/s41586-020-2435-1. Epub 2020 Jun 24. Nature. 2020. PMID: 32581361 Free PMC article.
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.
Kerr SM, Klaric L, Halachev M, Hayward C, Boutin TS, Meynert AM, Semple CA, Tuiskula AM, Swan H, Santoyo-Lopez J, Vitart V, Haley C, Dean J, Miedzybrodzka Z, Aitman TJ, Wilson JF. Kerr SM, et al. Among authors: santoyo lopez j. Sci Rep. 2019 Jul 29;9(1):10964. doi: 10.1038/s41598-019-47436-6. Sci Rep. 2019. PMID: 31358886 Free PMC article.
28 results