日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Sequence diversity lost in early pregnancy

妊娠早期序列多样性丧失

Arnadottir, Gudny A; Jonsson, Hakon; Hartwig, Tanja Schlaikjær; Gruhn, Jennifer R; Møller, Peter Loof; Gylfason, Arnaldur; Westergaard, David; Chan, Andrew Chi-Ho; Oddsson, Asmundur; Stefansdottir, Lilja; Roux, Louise le; Steinthorsdottir, Valgerdur; Swerford Moore, Kristjan H; Olafsson, Sigurgeir; Olason, Pall I; Eggertsson, Hannes P; Halldórsson, Gísli H; Walters, G Bragi; Stefansson, Hreinn; Gudjonsson, Sigurjon A; Palsson, Gunnar; Jensson, Brynjar O; Fridriksdottir, Run; Petersen, Jesper Friis; Helgason, Agnar; Norddahl, Gudmundur L; Rohde, Palle Duun; Saemundsdottir, Jona; Magnusson, Olafur Th; Halldorsson, Bjarni V; Bliddal, Sofie; Banasik, Karina; Gudbjartsson, Daniel F; Nyegaard, Mette; Sulem, Patrick; Thorsteinsdottir, Unnur; Hoffmann, Eva R; Nielsen, Henriette Svarre; Stefansson, Kari

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease

ITSN1基因功能缺失变异会增加患帕金森病的风险。

Skuladottir, Astros Th; Tragante, Vinicius; Sveinbjornsson, Gardar; Helgason, Hannes; Sturluson, Arni; Bjornsdottir, Anna; Jonsson, Palmi; Palmadottir, Vala; Sveinsson, Olafur A; Jensson, Brynjar O; Gudjonsson, Sigurjon A; Ivarsdottir, Erna V; Gisladottir, Rosa S; Gunnarsson, Arni F; Walters, G Bragi; Jonsdottir, Gudrun A; Thorgeirsson, Thorgeir E; Bjornsdottir, Gyda; Holm, Hilma; Gudbjartsson, Daniel F; Sulem, Patrick; Stefansson, Hreinn; Stefansson, Kari

Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

出版商更正:152万个体中纯合性缺失以及隐性致死的遗传原因

Oddsson, Asmundur; Sulem, Patrick; Sveinbjornsson, Gardar; Arnadottir, Gudny A; Steinthorsdottir, Valgerdur; Halldorsson, Gisli H; Atlason, Bjarni A; Oskarsson, Gudjon R; Helgason, Hannes; Nielsen, Henriette Svarre; Westergaard, David; Karjalainen, Juha M; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jensson, Brynjar O; Tragante, Vinicius; Ferkingstad, Egil; Jonsson, Hakon; Gudjonsson, Sigurjon A; Beyter, Doruk; Moore, Kristjan H S; Thordardottir, Helga B; Kristmundsdottir, Snaedis; Stefansson, Olafur A; Rantapää-Dahlqvist, Solbritt; Sonderby, Ida Elken; Didriksen, Maria; Stridh, Pernilla; Haavik, Jan; Tryggvadottir, Laufey; Frei, Oleksandr; Walters, G Bragi; Kockum, Ingrid; Hjalgrim, Henrik; Olafsdottir, Thorunn A; Selbaek, Geir; Nyegaard, Mette; Erikstrup, Christian; Brodersen, Thorsten; Saevarsdottir, Saedis; Olsson, Tomas; Nielsen, Kaspar Rene; Haraldsson, Asgeir; Bruun, Mie Topholm; Hansen, Thomas Folkmann; Steingrimsdottir, Thora; Jacobsen, Rikke Louise; Lie, Rolv T; Djurovic, Srdjan; Alfredsson, Lars; Lopez de Lapuente Portilla, Aitzkoa; Brunak, Soren; Melsted, Pall; Halldorsson, Bjarni V; Saemundsdottir, Jona; Magnusson, Olafur Th; Padyukov, Leonid; Banasik, Karina; Rafnar, Thorunn; Askling, Johan; Klareskog, Lars; Pedersen, Ole Birger; Masson, Gisli; Havdahl, Alexandra; Nilsson, Bjorn; Andreassen, Ole A; Daly, Mark; Ostrowski, Sisse Rye; Jonsdottir, Ingileif; Stefansson, Hreinn; Holm, Hilma; Helgason, Agnar; Thorsteinsdottir, Unnur; Stefansson, Kari; Gudbjartsson, Daniel F

Factor B Mutation in Monozygotic Twins Discordant for Atypical Hemolytic Uremic Syndrome

单卵双胞胎中B因子突变导致非典型溶血性尿毒综合征不一致

Aradottir, Sigridur Sunna; Kristoffersson, Ann-Charlotte; Jensson, Brynjar O; Sulem, Patrick; Gong, Henning; Palsson, Runolfur; Karpman, Diana

Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

序列变异影响 GCSAML 剪接、肥大细胞特异性蛋白和荨麻疹风险

Ragnar P Kristjansson #, Gudjon R Oskarsson #, Astros Skuladottir, Asmundur Oddsson, Solvi Rognvaldsson, Gardar Sveinbjornsson, Sigrun H Lund, Brynjar O Jensson, Edda L Styrmisdottir, Gisli H Halldorsson, Egil Ferkingstad, Grimur Hjorleifsson Eldjarn, Doruk Beyter, Snædis Kristmundsdottir, Kristinn

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

人群水平的纯合性缺陷揭示了 CPSF3 是一种智力障碍综合征基因

Gudny A Arnadottir, Asmundur Oddsson, Brynjar O Jensson, Svanborg Gisladottir, Mariella T Simon, Asgeir O Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R Oskarss

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database

冰岛恶性高热症基因序列变异:人口数据库中的分类和可操作发现

Run Fridriksdottir #, Arnar J Jonsson #, Brynjar O Jensson, Kristinn O Sverrisson, Gudny A Arnadottir, Sigurbjorg J Skarphedinsdottir, Hildigunnur Katrinardottir, Steinunn Snaebjornsdottir, Hakon Jonsson, Ogmundur Eiriksson, Gudjon R Oskarsson, Asmundur Oddsson, Adalbjorg Jonasdottir, Aslaug Jonasdo

Isolation of equid alphaherpesvirus 3 from a horse in Iceland with equine coital exanthema

从一匹患马性交疹的冰岛马体内分离出马 α 疱疹病毒 3

Lilja Thorsteinsdóttir, Gunnar Örn Guðmundsson, Höskuldur Jensson, Sigurbjörg Torsteinsdóttir, Vilhjálmur Svansson