Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2002 1
2004 2
2005 1
2006 2
2007 2
2008 2
2009 3
2010 1
2011 2
2012 1
2013 1
2014 1
2016 2
2017 1
2018 2
2019 3
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

26 results

Results by year

Filters applied: . Clear all
Page 1
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study; Blair E, Taylor JC, Stewart H. Pagnamenta AT, et al. Among authors: kaisaki pj. Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30859559 Free PMC article.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: kaisaki pj. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons.
Calderari S, Ria M, Gérard C, Nogueira TC, Villate O, Collins SC, Neil H, Gervasi N, Hue C, Suarez-Zamorano N, Prado C, Cnop M, Bihoreau MT, Kaisaki PJ, Cazier JB, Julier C, Lathrop M, Werner M, Eizirik DL, Gauguier D. Calderari S, et al. Among authors: kaisaki pj. Genomics. 2018 Mar;110(2):98-111. doi: 10.1016/j.ygeno.2017.09.001. Epub 2017 Sep 11. Genomics. 2018. PMID: 28911974 Free article.
Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series.
Domingo E, Camps C, Kaisaki PJ, Parsons MJ, Mouradov D, Pentony MM, Makino S, Palmieri M, Ward RL, Hawkins NJ, Gibbs P, Askautrud H, Oukrif D, Wang H, Wood J, Tomlinson E, Bark Y, Kaur K, Johnstone EC, Palles C, Church DN, Novelli M, Danielsen HE, Sherlock J, Kerr D, Kerr R, Sieber O, Taylor JC, Tomlinson I. Domingo E, et al. Among authors: kaisaki pj. Lancet Gastroenterol Hepatol. 2018 Sep;3(9):635-643. doi: 10.1016/S2468-1253(18)30117-1. Epub 2018 Jul 2. Lancet Gastroenterol Hepatol. 2018. PMID: 30042065 Free PMC article. Clinical Trial.
Genetic control of differential acetylation in diabetic rats.
Kaisaki PJ, Otto GW, McGouran JF, Toubal A, Argoud K, Waller-Evans H, Finlay C, Caldérari S, Bihoreau MT, Kessler BM, Gauguier D, Mott R. Kaisaki PJ, et al. PLoS One. 2014 Apr 17;9(4):e94555. doi: 10.1371/journal.pone.0094555. eCollection 2014. PLoS One. 2014. PMID: 24743600 Free PMC article.
Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.
Atanur SS, Diaz AG, Maratou K, Sarkis A, Rotival M, Game L, Tschannen MR, Kaisaki PJ, Otto GW, Ma MC, Keane TM, Hummel O, Saar K, Chen W, Guryev V, Gopalakrishnan K, Garrett MR, Joe B, Citterio L, Bianchi G, McBride M, Dominiczak A, Adams DJ, Serikawa T, Flicek P, Cuppen E, Hubner N, Petretto E, Gauguier D, Kwitek A, Jacob H, Aitman TJ. Atanur SS, et al. Among authors: kaisaki pj. Cell. 2013 Aug 1;154(3):691-703. doi: 10.1016/j.cell.2013.06.040. Epub 2013 Jul 25. Cell. 2013. PMID: 23890820 Free PMC article.
Untargeted metabolome quantitative trait locus mapping associates variation in urine glycerate to mutant glycerate kinase.
Cazier JB, Kaisaki PJ, Argoud K, Blaise BJ, Veselkov K, Ebbels TM, Tsang T, Wang Y, Bihoreau MT, Mitchell SC, Holmes EC, Lindon JC, Scott J, Nicholson JK, Dumas ME, Gauguier D. Cazier JB, et al. Among authors: kaisaki pj. J Proteome Res. 2012 Feb 3;11(2):631-42. doi: 10.1021/pr200566t. Epub 2011 Nov 28. J Proteome Res. 2012. PMID: 22029865
26 results