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Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies BRF2基因的双等位基因变异与围产期死亡和颅面畸形相关。 Mattioli, Francesca; Fridriksdottir, Run; Hebert, Anne; Bassani, Sissy; Ibrahim, Nazia; Naz, Shagufta; Chrast, Jacqueline; Pailler-Pradeau, Clara; Oddsson, Asmundur; Sulem, Patrick; Halldorsson, Gisli H.; Melsted, Pall; Guobjartsson, Daniel F.; Palombo, Flavia; Pippucci, Tommaso; Nouri, Nayereh; Seri, Marco; Farrow, Emily G.; Saunders, Carol J.; Guex, Nicolas; Ansar, Muhammad; Stefansson, Kari; Reymond, Alexandre 分享 收藏
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish GTF3C3基因的双等位基因变异，该基因编码TFIIIC2复合物的亚基，与人类和斑马鱼中的神经发育表型相关。 Abdel-Hamid, Mohamed S.; Paimboeuf, Adeline; Zaki, Maha S.; Figueiredo, Fernanda; Abdel-Ghafar, Sherif F.; Maher, Sabrina; Fridriksdottir, Run; Sulem, Patrick; Hognason, Hakon Bjorn; Hallgrimsdottir, Sigrun; Rojas, Catarina Falleiros N.; Kok, Fernando; Suri, Mohnish; Alves, Cesar Augusto P. F.; Houlden, Henry; Maroofian, Reza; Patten, Shunmoogum A. 分享 收藏
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder HECTD1中的序列变异导致可变的神经发育障碍 Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A. 分享 收藏
Transformers significantly improve splice site prediction (vol 7, 1616, 2024) 变压器显著改善了拼接现场预测 (第7卷、1616卷、2024卷) Jonsson, Benedikt A.; Halldorsson, Gisli H.; Ardal, Steinthor; Roegnvaldsson, Soelvi; Einarsson, Eythor; Sulem, Patrick; Guobjartsson, Daniel F.; Melsted, Pall; Stefansson, Kari; Ulfarsson, Magnus 分享 收藏
Transformers significantly improve splice site prediction 变压器显著改善拼接现场预测 Jonsson, Benedikt A.; Halldorsson, Gisli H.; Ardal, Steinpor; Rognvaldsson, Solvi; Einarsson, Eypor; Sulem, Patrick; Guobjartsson, Daniel F.; Melsted, Pall; Stefansson, Kari; Ulfarsson, Magnus O. 分享 收藏
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes 罕见种系变异的基于基因的负荷测试确定了六个癌症易感基因 Ivarsdottir, Erna V.; Gudmundsson, Julius; Tragante, Vinicius; Sveinbjornsson, Gardar; Kristmundsdottir, Snaedis; Stacey, Simon N.; Halldorsson, Gisli H.; Magnusson, Magnus I.; Oddsson, Asmundur; Walters, G. Bragi; Sigurdsson, Asgeir; Saevarsdottir, Saedis; Beyter, Doruk; Thorleifsson, Gudmar; Halldorsson, Bjarni V.; Melsted, Pall; Stefansson, Hreinn; Jonsdottir, Ingileif; Sorensen, Erik; Pedersen, Ole B.; Erikstrup, Christian; Bogsted, Martin; Pohl, Mette; Roder, Andreas; Stroomberg, Hein Vincent; Goegenur, Ismail; Hillingso, Jens; Bojesen, Stig E.; Lassen, Ulrik; Hogdall, Estrid; Ullum, Henrik; Brunak, Soren; Ostrowski, Sisse R.; Pedersen, Ole Birger; Sonderby, Ida Elken; Frei, Oleksandr; Djurovic, Srdjan; Havdahl, Alexandra; Moller, Pal; Dominguez-Valentin, Mev; Haavik, Jan; Andreassen, Ole A.; Hovig, Eivind; Agnarsson, Bjarni A.; Hilmarsson, Rafn; Johannsson, Oskar Th.; Valdimarsson, Trausti; Jonsson, Steinn; Moller, Pall H.; Olafsson, Jon H.; Sigurgeirsson, Bardur; Jonasson, Jon G.; Tryggvason, Geir; Holm, Hilma; Sulem, Patrick; Rafnar, Thorunn; Gudbjartsson, Daniel F.; Stefansson, Kari 分享 收藏
Predicting progression from coronary artery disease to heart failure in community cohorts 预测社区队列中从冠状动脉疾病到心力衰竭的进展 Pilbrow, A. P.; Tragante, V; Cameron, V. A.; Jones, G. T.; Helgadottir, A.; Troughton, R. W.; Richards, A. M.; Doughty, R. N.; Patel, R. S.; Asselbergs, F. W.; Gudbjartsson, D.; Sulem, P.; Holm, H.; Stefansson, K.; Poppe, K. K. 分享 收藏
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency CCDC201中终止增益变体的纯合性导致原发性卵巢功能不全 Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Oskarsson, Gudjon R.; Styrkarsdottir, Unnur; Moore, Kristjan H. S.; Isberg, Salvor; Halldorsson, Gisli H.; Sveinbjornsson, Gardar; Westergaard, David; Nielsen, Henriette Svarre; Fridriksdottir, Run; Jensson, Brynjar O.; Arnadottir, Gudny A.; Jonsson, Hakon; Sturluson, Arni; Snaebjarnarson, Audunn S.; Andreassen, Ole A.; Walters, G. Bragi; Nyegaard, Mette; Erikstrup, Christian; Steingrimsdottir, Thora; Lie, Rolv T.; Melsted, Pall; Jonsdottir, Ingileif; Halldorsson, Bjarni V.; Thorleifsson, Gudmar; Saemundsdottir, Jona; Magnusson, Olafur Th.; Banasik, Karina; Sorensen, Erik; Masson, Gisli; Pedersen, Ole Birger; Tryggvadottir, Laufey; Haavik, Jan; Ostrowski, Sisse Rye; Stefansson, Hreinn; Holm, Hilma; Rafnar, Thorunn; Gudbjartsson, Daniel F.; Sulem, Patrick; Stefansson, Kari 分享 收藏
Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease ITSN1的功能缺失变异导致帕金森病的高风险 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 分享 收藏
Deciphering the genetics and mechanisms of predisposition to multiple myeloma 解读多发性骨髓瘤易感性的遗传学和机制 Went, Molly; Duran-Lozano, Laura; Halldorsson, Gisli H.; Gunnell, Andrea; Ugidos-Damboriena, Nerea; Law, Philip; Ekdahl, Ludvig; Sud, Amit; Thorleifsson, Gudmar; Thodberg, Malte; Olafsdottir, Thorunn; Lamarca-Arrizabalaga, Antton; Cafaro, Caterina; Niroula, Abhishek; Ajore, Ram; Portilla, Aitzkoa Lopez de Lapuente; Ali, Zain; Pertesi, Maroulio; Goldschmidt, Hartmut; Stefansdottir, Lilja; Kristinsson, Sigurdur Y.; Stacey, Simon N.; Love, Thorvardur J.; Rognvaldsson, Saemundur; Hajek, Roman; Vodicka, Pavel; Pettersson-Kymmer, Ulrika; Spath, Florentin; Schinke, Carolina; Van Rhee, Frits; Sulem, Patrick; Ferkingstad, Egil; Eldjarn, Grimur Hjorleifsson; Mellqvist, Ulf-Henrik; Jonsdottir, Ingileif; Morgan, Gareth; Sonneveld, Pieter; Waage, Anders; Weinhold, Niels; Thomsen, Hauke; Foersti, Asta; Hansson, Markus; Juul-Vangsted, Annette; Thorsteinsdottir, Unnur; Hemminki, Kari; Kaiser, Martin; Rafnar, Thorunn; Stefansson, Kari; Houlston, Richard; Nilsson, Bjorn 分享 收藏
The correlation between CpG methylation and gene expression is driven by sequence variants CpG甲基化与基因表达之间的相关性由序列变异驱动 Stefansson, Olafur Andri; Sigurpalsdottir, Brynja Dogg; Rognvaldsson, Solvi; Halldorsson, Gisli Hreinn; Juliusson, Kristinn; Sveinbjornsson, Gardar; Gunnarsson, Bjarni; Beyter, Doruk; Jonsson, Hakon; Gudjonsson, Sigurjon Axel; Olafsdottir, Thorunn Asta; Saevarsdottir, Saedis; Magnusson, Magnus Karl; Lund, Sigrun Helga; Tragante, Vinicius; Oddsson, Asmundur; Hardarson, Marteinn Thor; Eggertsson, Hannes Petur; Gudmundsson, Reynir L.; Sverrisson, Sverrir; Frigge, Michael L.; Zink, Florian; Holm, Hilma; Stefansson, Hreinn; Rafnar, Thorunn; Jonsdottir, Ingileif; Sulem, Patrick; Helgason, Agnar; Gudbjartsson, Daniel F.; Halldorsson, Bjarni V.; Thorsteinsdottir, Unnur; Stefansson, Kari 分享 收藏
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease LAG3的起始密码子变异与LAG-3表达降低和自身免疫性甲状腺疾病风险增加有关 Saevarsdottir, Saedis; Bjarnadottir, Kristbjorg; Markusson, Thorsteinn; Berglund, Jonas; Olafsdottir, Thorunn A.; Halldorsson, Gisli H.; Rutsdottir, Gudrun; Gunnarsdottir, Kristbjorg; Arnthorsson, Asgeir Orn; Lund, Sigrun H.; Stefansdottir, Lilja; Gudmundsson, Julius; Johannesson, Ari J.; Sturluson, Arni; Oddsson, Asmundur; Halldorsson, Bjarni; Ludviksson, Bjorn R.; Ferkingstad, Egil; Ivarsdottir, Erna V.; Sveinbjornsson, Gardar; Grondal, Gerdur; Masson, Gisli; Eldjarn, Grimur Hjorleifsson; Thorisson, Gudmundur A.; Kristjansdottir, Katla; Knowlton, Kirk U.; Moore, Kristjan H. S.; Gudjonsson, Sigurjon A.; Rognvaldsson, Solvi; Knight, Stacey; Nadauld, Lincoln D.; Holm, Hilma; Magnusson, Olafur T.; Sulem, Patrick; Gudbjartsson, Daniel F.; Rafnar, Thorunn; Thorleifsson, Gudmar; Melsted, Pall; Norddahl, Gudmundur L.; Jonsdottir, Ingileif; Stefansson, Kari 分享 收藏
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 神经发育障碍队列的负担重新分析，以优先考虑候选基因 Smal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E. C.; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B.; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N.; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A.; Lalani, Seema R.; Streff, Haley; Kooy, R. Frank; Weckhuysen, Sarah 分享 收藏
Understanding the genetic complexity of puberty timing across the allele frequency spectrum 了解等位基因频谱中青春期时间的遗传复杂性 Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa; Vaudel, Marc; de Oliveira, Edson Mendes; Messina, Andrea; Walters, Robin G.; Liu, Xiaoxi; Busch, Alexander S.; Helgason, Hannes; Thompson, Deborah J.; Santoni, Federico; Petricek, Konstantin M.; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F.; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J.; Zhao, Yajie; Jia, Raina Y.; Terao, Chikashi; Riggan, Marjorie J.; Bolla, Manjeet K.; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bradfield, Jonathan P.; Broer, Linda; Campbell, Archie; Chasman, Daniel I.; Cousminer, Diana L.; Franceschini, Nora; Franke, Lude H.; Girotto, Giorgia; He, Chunyan; Jarvelin, Marjo-Riitta; Joshi, Peter K.; Kamatani, Yoichiro; Karlsson, Robert; Luan, Jian'an; Lunetta, Kathryn L.; Magi, Reedik; Mangino, Massimo; Medland, Sarah E.; Meisinger, Christa; Noordam, Raymond; Nutile, Teresa; Concas, Maria Pina; Polasek, Ozren; Porcu, Eleonora; Ring, Susan M.; Sala, Cinzia; Smith, Albert V.; Tanaka, Toshiko; Van der Most, Peter J.; Vitart, Veronique; Wang, Carol A.; Willemsen, Gonneke; Zygmunt, Marek; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antoniou, Antonis C.; Auer, Paul L.; Barnes, Catriona L. K.; Beckmann, Matthias W.; de Gonzalez, Amy Berrington; Bogdanova, Natalia V.; Bojesen, Stig E.; Brenner, Hermann; Buring, Julie E.; Canzian, Federico; Chang-Claude, Jenny; Couch, Fergus J.; Cox, Angela; Crisponi, Laura; Czene, Kamila; Daly, Mary B.; Demerath, Ellen W.; Dennis, Joe; Devilee, Peter; De Vivo, Immaculata; Doerk, Thilo; Dunning, Alison M.; Dwek, Miriam; Eriksson, Johan G.; Fasching, Peter A.; Fernandez-Rhodes, Lindsay; Ferreli, Liana; Fletcher, Olivia; Gago-Dominguez, Manuela; Garcia-Closas, Montserrat; Garcia-Saenz, Jose A.; Gonzalez-Neira, Anna; Grallert, Harald; Guenel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hakonarson, Hakon; Hart, Roger J.; Hickey, Martha; Hooning, Maartje J.; Hoppe, Reiner; Hopper, John L.; Hottenga, Jouke-Jan; Hu, Frank B.; Huebner, Hanna; Hunter, David J.; Jernstrom, Helena; John, Esther M.; Karasik, David; Khusnutdinova, Elza K.; Kristensen, Vessela N.; Lacey, James V.; Lambrechts, Diether; Launer, Lenore J.; Lind, Penelope A.; Lindblom, Annika; Magnusson, Patrik K. E.; Mannermaa, Arto; McCarthy, Mark I.; Meitinger, Thomas; Menni, Cristina; Michailidou, Kyriaki; Millwood, Iona Y.; Milne, Roger L.; Montgomery, Grant W.; Nevanlinna, Heli; Nolte, Ilja M.; Nyholt, Dale R.; Obi, Nadia; O'Brien, Katie M.; Offit, Kenneth; Oldehinkel, Albertine J.; Ostrowski, Sisse R.; Palotie, Aarno; Pedersen, Ole B.; Peters, Annette; Pianigiani, Giulia; Plaseska-Karanfilska, Dijana; Pouta, Anneli; Pozarickij, Alfred; Radice, Paolo; Rennert, Gad; Rosendaal, Frits R.; Ruggiero, Daniela; Saloustros, Emmanouil; Sandler, Dale P.; Schipf, Sabine; Schmidt, Carsten O.; Schmidt, Marjanka K.; Small, Kerrin; Spedicati, Beatrice; Stampfer, Meir; Stone, Jennifer; Tamimi, Rulla M.; Teras, Lauren R.; Tikkanen, Emmi; Turman, Constance; Vachon, Celine M.; Wang, Qin; Winqvist, Robert; Wolk, Alicja; Zemel, Babette S.; Zheng, Wei; van Dijk, Ko W.; Alizadeh, Behrooz Z.; Bandinelli, Stefania; Boerwinkle, Eric; Boomsma, Dorret I.; Ciullo, Marina; Chenevix-Trench, Georgia; Cucca, Francesco; Esko, Tonu; Gieger, Christian; Grant, Struan F. A.; Gudnason, Vilmundur; Hayward, Caroline; Kolcic, Ivana; Kraft, Peter; Lawlor, Deborah A.; Martin, Nicholas G.; Nohr, Ellen A.; Pedersen, Nancy L.; Pennell, Craig E.; Ridker, Paul M.; Robino, Antonietta; Snieder, Harold; Sovio, Ulla; Spector, Tim D.; Stockl, Doris; Sudlow, Cathie; Timpson, Nic J.; Toniolo, Daniela; Uitterlinden, Andre; Ulivi, Sheila; Volzke, Henry; Wareham, Nicholas J.; Widen, Elisabeth; Wilson, James F.; Pharoah, Paul D. P.; Li, Liming; Easton, Douglas F.; Njolstad, Pal R.; Sulem, Patrick; Murabito, Joanne M.; Murray, Anna; Manousaki, Despoina; Juul, Anders; Erikstrup, Christian; Stefansson, Kari; Horikoshi, Momoko; Chen, Zhengming; Farooqi, I. Sadaf; Pitteloud, Nelly; Johansson, Stefan; Day, Felix R.; Perry, John R. B.; Ong, Ken K. 分享 收藏
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response PSMD11功能丧失变体与神经行为表型，肥胖和干扰素反应增加相关 Deb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic 分享 收藏
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis Skuladottir, Astros Th.; Stefansdottir, Lilja; Halldorsson, Gisli H.; Stefansson, Olafur A.; Bjornsdottir, Anna; Jonsson, Palmi; Palmadottir, Vala; Thorgeirsson, Thorgeir E.; Walters, G. Bragi; Gisladottir, Rosa S.; Bjornsdottir, Gyda; Jonsdottir, Gudrun A.; Sulem, Patrick; Gudbjartsson, Daniel F.; Knowlton, Kirk U.; Jones, David A.; Ottas, Aigar; Pedersen, Ole B.; Didriksen, Maria; Brunak, Soren; Banasik, Karina; Hansen, Thomas Folkmann; Erikstrup, Christian; Haavik, Jan; Andreassen, Ole A.; Rye, David; Igland, Jannicke; Ostrowski, Sisse Rye; Milani, Lili A.; Nadauld, Lincoln D.; Stefansson, Hreinn; Stefansson, Kari 分享 收藏
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