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

Year Number of Results
2003 3
2004 3
2005 6
2006 12
2007 4
2008 3
2009 4
2010 8
2011 3
2012 8
2013 8
2014 4
2015 1
2016 4
2017 4
2018 6
2019 5
2020 7
2021 6
2022 3
2023 2
2024 1

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95 results

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Page 1
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Among authors: feuk l. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: feuk l. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
Long-read whole-genome analysis of human single cells.
Hård J, Mold JE, Eisfeldt J, Tellgren-Roth C, Häggqvist S, Bunikis I, Contreras-Lopez O, Chin CS, Nordlund J, Rubin CJ, Feuk L, Michaëlsson J, Ameur A. Hård J, et al. Among authors: feuk l. Nat Commun. 2023 Aug 24;14(1):5164. doi: 10.1038/s41467-023-40898-3. Nat Commun. 2023. PMID: 37620373 Free PMC article.
Splicing in the human brain.
Zaghlool A, Ameur A, Cavelier L, Feuk L. Zaghlool A, et al. Among authors: feuk l. Int Rev Neurobiol. 2014;116:95-125. doi: 10.1016/B978-0-12-801105-8.00005-9. Int Rev Neurobiol. 2014. PMID: 25172473 Review.
Prepublication data sharing.
Toronto International Data Release Workshop Authors; Birney E, Hudson TJ, Green ED, Gunter C, Eddy S, Rogers J, Harris JR, Ehrlich SD, Apweiler R, Austin CP, Berglund L, Bobrow M, Bountra C, Brookes AJ, Cambon-Thomsen A, Carter NP, Chisholm RL, Contreras JL, Cooke RM, Crosby WL, Dewar K, Durbin R, Dyke SO, Ecker JR, El Emam K, Feuk L, Gabriel SB, Gallacher J, Gelbart WM, Granell A, Guarner F, Hubbard T, Jackson SA, Jennings JL, Joly Y, Jones SM, Kaye J, Kennedy KL, Knoppers BM, Kyrpides NC, Lowrance WW, Luo J, MacKay JJ, Martín-Rivera L, McCombie WR, McPherson JD, Miller L, Miller W, Moerman D, Mooser V, Morton CC, Ostell JM, Ouellette BF, Parkhill J, Raina PS, Rawlings C, Scherer SE, Scherer SW, Schofield PN, Sensen CW, Stodden VC, Sussman MR, Tanaka T, Thornton J, Tsunoda T, Valle D, Vuorio EI, Walker NM, Wallace S, Weinstock G, Whitman WB, Worley KC, Wu C, Wu J, Yu J. Toronto International Data Release Workshop Authors, et al. Among authors: feuk l. Nature. 2009 Sep 10;461(7261):168-70. doi: 10.1038/461168a. Nature. 2009. PMID: 19741685 Free PMC article.
R.ROSETTA: an interpretable machine learning framework.
Garbulowski M, Diamanti K, Smolińska K, Baltzer N, Stoll P, Bornelöv S, Øhrn A, Feuk L, Komorowski J. Garbulowski M, et al. Among authors: feuk l. BMC Bioinformatics. 2021 Mar 6;22(1):110. doi: 10.1186/s12859-021-04049-z. BMC Bioinformatics. 2021. PMID: 33676405 Free PMC article.
Structural variation in the human genome.
Feuk L, Carson AR, Scherer SW. Feuk L, et al. Nat Rev Genet. 2006 Feb;7(2):85-97. doi: 10.1038/nrg1767. Nat Rev Genet. 2006. PMID: 16418744 Review.
Copy-number variation in control population cohorts.
Pinto D, Marshall C, Feuk L, Scherer SW. Pinto D, et al. Among authors: feuk l. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R168-73. doi: 10.1093/hmg/ddm241. Hum Mol Genet. 2007. PMID: 17911159 Review.
Copy number variation: new insights in genome diversity.
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Freeman JL, et al. Among authors: feuk l. Genome Res. 2006 Aug;16(8):949-61. doi: 10.1101/gr.3677206. Epub 2006 Jun 29. Genome Res. 2006. PMID: 16809666 Free article. Review.
95 results