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

45 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: arnadottir ga. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K, Palsson R. Runolfsdottir HL, et al. Among authors: arnadottir ga. Eur J Hum Genet. 2021 Jul;29(7):1061-1070. doi: 10.1038/s41431-020-00805-6. Epub 2021 Mar 11. Eur J Hum Genet. 2021. PMID: 33707627 Free PMC article.
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Klemenzdottir EO, Arnadottir GA, Jensson BO, Jonasdottir A, Katrinardottir H, Fridriksdottir R, Jonasdottir A, Sigurdsson A, Gudjonsson SA, Jonsson JJ, Stefansdottir V, Danielsen R, Palsdottir A, Jonsson H, Helgason A, Magnusson OT, Thorsteinsdottir U, Bjornsson HT, Stefansson K, Sulem P. Klemenzdottir EO, et al. Among authors: arnadottir ga. Eur J Hum Genet. 2024 Jan;32(1):44-51. doi: 10.1038/s41431-023-01455-0. Epub 2023 Sep 8. Eur J Hum Genet. 2024. PMID: 37684520 Free PMC article.
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA, Jensson BO, Marelsson SE, Sulem G, Oddsson A, Kristjansson RP, Benonisdottir S, Gudjonsson SA, Masson G, Thorisson GA, Saemundsdottir J, Magnusson OT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Stefansson K. Arnadottir GA, et al. BMC Med Genet. 2017 Oct 2;18(1):103. doi: 10.1186/s12881-017-0466-8. BMC Med Genet. 2017. PMID: 28965491 Free PMC article.
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R, Jonsson AJ, Jensson BO, Sverrisson KO, Arnadottir GA, Skarphedinsdottir SJ, Katrinardottir H, Snaebjornsdottir S, Jonsson H, Eiriksson O, Oskarsson GR, Oddsson A, Jonasdottir A, Jonasdottir A, Sigurdsson GH, Indridason EP, Sigurdsson SB, Bjornsdottir G, Saemundsdottir J, Magnusson OT, Bjornsson HT, Thorsteinsdottir U, Sigurdsson TS, Sulem P, Sigurdsson MI, Stefansson K. Fridriksdottir R, et al. Among authors: arnadottir ga. Eur J Hum Genet. 2021 Dec;29(12):1819-1824. doi: 10.1038/s41431-021-00954-2. Epub 2021 Aug 31. Eur J Hum Genet. 2021. PMID: 34462577 Free PMC article.
Sequence variants affecting the genome-wide rate of germline microsatellite mutations.
Kristmundsdottir S, Jonsson H, Hardarson MT, Palsson G, Beyter D, Eggertsson HP, Gylfason A, Sveinbjornsson G, Holley G, Stefansson OA, Halldorsson GH, Olafsson S, Arnadottir GA, Olason PI, Eiriksson O, Masson G, Thorsteinsdottir U, Rafnar T, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Stefansson K. Kristmundsdottir S, et al. Among authors: arnadottir ga. Nat Commun. 2023 Jun 29;14(1):3855. doi: 10.1038/s41467-023-39547-6. Nat Commun. 2023. PMID: 37386006 Free PMC article.
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Among authors: arnadottir ga. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.
Helgadottir A, Sulem P, Thorgeirsson G, Gretarsdottir S, Thorleifsson G, Jensson BÖ, Arnadottir GA, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Helgadottir A, et al. Among authors: arnadottir ga. Eur Heart J. 2018 Jun 14;39(23):2172-2178. doi: 10.1093/eurheartj/ehy169. Eur Heart J. 2018. PMID: 29596577 Free PMC article.
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G, Olafsdottir EF, Thorolfsdottir RB, Davidsson OB, Helgadottir A, Jonasdottir A, Jonasdottir A, Bjornsson E, Jensson BO, Arnadottir GA, Kristinsdottir H, Stephensen SS, Oskarsson G, Gudbjartsson T, Sigurdsson EL, Andersen K, Danielsen R, Arnar DO, Jonsdottir I, Thorsteinsdottir U, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Stefansson K. Sveinbjornsson G, et al. Among authors: arnadottir ga. Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151. Circ Genom Precis Med. 2018. PMID: 30354339 Free article.
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K. Arnadottir GA, et al. Nat Commun. 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8. Nat Commun. 2022. PMID: 35121750 Free PMC article.
45 results