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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

100 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. O'Toole JF, et al. Among authors: uusimaa j. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. J Clin Invest. 2010. PMID: 20179356 Free PMC article.
DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
Harju T, Hurme-Niiranen A, Suo-Palosaari M, Nygaard Nielsen S, Hinttala R, Schmiegelow K, Uusimaa J, Harila A, Niinimäki R. Harju T, et al. Among authors: uusimaa j. Pharmacogenomics J. 2023 Sep;23(5):105-111. doi: 10.1038/s41397-023-00303-0. Epub 2023 May 3. Pharmacogenomics J. 2023. PMID: 37138020 Free PMC article.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: uusimaa j. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Järvelä V, Hamze M, Komulainen-Ebrahim J, Rahikkala E, Piispala J, Kallio M, Kangas SM, Nickl T, Huttula M, Hinttala R, Uusimaa J, Medina I, Immonen EV. Järvelä V, et al. Among authors: uusimaa j. Front Mol Neurosci. 2024 Apr 10;17:1372662. doi: 10.3389/fnmol.2024.1372662. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38660387 Free PMC article.
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. Uusimaa J, et al. Dis Model Mech. 2022 Oct 1;15(10):dmm049490. doi: 10.1242/dmm.049490. Epub 2022 Oct 26. Dis Model Mech. 2022. PMID: 36285626 Free PMC article. Review.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Urpa L, Kurki MI, Rahikkala E, Hämäläinen E, Salomaa V, Suvisaari J, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Uusimaa J, Moilanen JS, Körkkö J, Singh T, Kuismin O, Pietiläinen O, Palotie A, Daly MJ. Urpa L, et al. Among authors: uusimaa j. Eur J Hum Genet. 2024 May;32(5):576-583. doi: 10.1038/s41431-024-01581-3. Epub 2024 Mar 11. Eur J Hum Genet. 2024. PMID: 38467730 Free PMC article.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y, Hepojoki J, Maldonado RS, Mito T, Terzioglu M, Manninen T, Kant R, Singh S, Othman A, Verma R, Uusimaa J, Wartiovaara K, Kareinen L, Zamboni N, Nyman TA, Paetau A, Kipar A, Vapalahti O, Suomalainen A. Kang Y, et al. Among authors: uusimaa j. Nature. 2024 Apr;628(8009):844-853. doi: 10.1038/s41586-024-07260-z. Epub 2024 Apr 3. Nature. 2024. PMID: 38570685 Free PMC article.
100 results