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 Custom Filters

Results by year

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

Year Number of Results
1996 1
1997 2
1998 1
2000 3
2001 1
2002 2
2004 1
2005 2
2006 1
2007 1
2008 2
2009 1
2010 1
2011 1
2012 1
2013 1
2015 1
2017 1
2018 2
2019 5
2021 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

30 results

Results by year

Filters applied: . Clear all
Page 1
Registered access: authorizing data access.
Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, Spalding JD, Cabili MN, Kerry G, Foreman J, Cutts T, Shabani M, Rodriguez LL, Haeussler M, Walsh B, Jiang X, Wang S, Perrett D, Boughtwood T, Matern A, Brookes AJ, Cupak M, Fiume M, Pandya R, Tulchinsky I, Scollen S, Törnroos J, Das S, Evans AC, Malin BA, Beck S, Brenner SE, Nyrönen T, Blomberg N, Firth HV, Hurles M, Philippakis AA, Rätsch G, Brudno M, Boycott KM, Rehm HL, Baudis M, Sherry ST, Kato K, Knoppers BM, Baker D, Flicek P. Dyke SOM, et al. Among authors: lappalainen i. Eur J Hum Genet. 2018 Dec;26(12):1721-1731. doi: 10.1038/s41431-018-0219-y. Epub 2018 Aug 2. Eur J Hum Genet. 2018. PMID: 30069064 Free PMC article.
Leveraging European infrastructures to access 1 million human genomes by 2022.
Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S. Saunders G, et al. Among authors: lappalainen i. Nat Rev Genet. 2019 Nov;20(11):693-701. doi: 10.1038/s41576-019-0156-9. Epub 2019 Aug 27. Nat Rev Genet. 2019. PMID: 31455890 Free PMC article. Review.
Registries of immunodeficiency patients and mutations.
Lappalainen I, Ollila J, Smith CI, Vihinen M. Lappalainen I, et al. Hum Mutat. 1997;10(4):261-7. doi: 10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K. Hum Mutat. 1997. PMID: 9338579 Review.
Primary immunodeficiency mutation databases.
Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI. Vihinen M, et al. Among authors: lappalainen i. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.
htsget: a protocol for securely streaming genomic data.
Kelleher J, Lin M, Albach CH, Birney E, Davies R, Gourtovaia M, Glazer D, Gonzalez CY, Jackson DK, Kemp A, Marshall J, Nowak A, Senf A, Tovar-Corona JM, Vikhorev A, Keane TM; GA4GH Streaming Task Team. Kelleher J, et al. Bioinformatics. 2019 Jan 1;35(1):119-121. doi: 10.1093/bioinformatics/bty492. Bioinformatics. 2019. PMID: 29931085 Free PMC article.
Common ELIXIR Service for Researcher Authentication and Authorisation.
Linden M, Prochazka M, Lappalainen I, Bucik D, Vyskocil P, Kuba M, Silén S, Belmann P, Sczyrba A, Newhouse S, Matyska L, Nyrönen T. Linden M, et al. Among authors: lappalainen i. F1000Res. 2018 Aug 6;7:ELIXIR-1199. doi: 10.12688/f1000research.15161.1. eCollection 2018. F1000Res. 2018. PMID: 30254736 Free PMC article.
Federated discovery and sharing of genomic data using Beacons.
Fiume M, Cupak M, Keenan S, Rambla J, de la Torre S, Dyke SOM, Brookes AJ, Carey K, Lloyd D, Goodhand P, Haeussler M, Baudis M, Stockinger H, Dolman L, Lappalainen I, Törnroos J, Linden M, Spalding JD, Ur-Rehman S, Page A, Flicek P, Sherry S, Haussler D, Varma S, Saunders G, Scollen S. Fiume M, et al. Among authors: lappalainen i. Nat Biotechnol. 2019 Mar;37(3):220-224. doi: 10.1038/s41587-019-0046-x. Nat Biotechnol. 2019. PMID: 30833764 Free PMC article. No abstract available.
DbVar and DGVa: public archives for genomic structural variation.
Lappalainen I, Lopez J, Skipper L, Hefferon T, Spalding JD, Garner J, Chen C, Maguire M, Corbett M, Zhou G, Paschall J, Ananiev V, Flicek P, Church DM. Lappalainen I, et al. Nucleic Acids Res. 2013 Jan;41(Database issue):D936-41. doi: 10.1093/nar/gks1213. Epub 2012 Nov 27. Nucleic Acids Res. 2013. PMID: 23193291 Free PMC article.
30 results