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

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

大规模全基因组关联分析揭示肥厚型心肌病的新遗传位点和机制

Tadros, Rafik; Zheng, Sean L; Grace, Christopher; Jordà, Paloma; Francis, Catherine; West, Dominique M; Jurgens, Sean J; Thomson, Kate L; Harper, Andrew R; Ormondroyd, Elizabeth; Xu, Xiao; Theotokis, Pantazis I; Buchan, Rachel J; McGurk, Kathryn A; Mazzarotto, Francesco; Boschi, Beatrice; Pelo, Elisabetta; Lee, Michael; Noseda, Michela; Varnava, Amanda; Vermeer, Alexa M C; Walsh, Roddy; Amin, Ahmad S; van Slegtenhorst, Marjon A; Roslin, Nicole M; Strug, Lisa J; Salvi, Erika; Lanzani, Chiara; de Marvao, Antonio; Roberts, Jason D; Tremblay-Gravel, Maxime; Giraldeau, Genevieve; Cadrin-Tourigny, Julia; L'Allier, Philippe L; Garceau, Patrick; Talajic, Mario; Gagliano Taliun, Sarah A; Pinto, Yigal M; Rakowski, Harry; Pantazis, Antonis; Bai, Wenjia; Baksi, John; Halliday, Brian P; Prasad, Sanjay K; Barton, Paul J R; O'Regan, Declan P; Cook, Stuart A; de Boer, Rudolf A; Christiaans, Imke; Michels, Michelle; Kramer, Christopher M; Ho, Carolyn Y; Neubauer, Stefan; Matthews, Paul M; Wilde, Arthur A M; Tardif, Jean-Claude; Olivotto, Iacopo; Adler, Arnon; Goel, Anuj; Ware, James S; Bezzina, Connie R; Watkins, Hugh

Methylphenidate Inhibits the Development of Myopia by Altering Dopamine and Norepinephrine Reuptake

哌甲酯通过改变多巴胺和去甲肾上腺素的再摄取来抑制近视的发展

Karouta, Cindy; Thomson, Kate; Morgan, Ian; Booth, Lauren; Ashby, Regan

IMI: The Role of Light in Refractive Development and Myopia: Evidence from Animal and Human Studies

IMI:光在屈光发育和近视中的作用:来自动物和人类研究的证据

Ashby, Regan; Harb, Elise N; Ostrin, Lisa A; Flitcroft, Daniel Ian; Schaeffel, Frank; Karouta, Cindy; Gawne, Timothy; Chakraborty, Ranjay; Thomson, Kate; Read, Scott; Baraas, Rigmor C; Najjar, Raymond P; Rose, Kathryn; Phillips, John R; Wu, Pei-Chang; He, Xiangui; Liu, Xiao Nicole; Lan, Weizhong; Swiatczak, Barbara; Torii, Hidemasa; Chia, Audrey; Morgan, Ian

Light Inhibits Lens-Induced Myopia through an Intensity-Dependent Dopaminergic Mechanism.

光通过强度依赖性多巴胺能机制抑制晶状体诱发的近视

Karouta Cindy, Thomson Kate, Morgan Ian, Ashby Regan

An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

mavacamten 可部分挽救导致常染色体显性肥厚型心肌病的 ALPK3 截短变异体。

Leinhos, Lisa; Robinson, Paul; Poloni, Giulia; Broadway-Stringer, Sophie; Beglov, Julia; Lokman, Adam B; Douglas, Gillian; Nuthay, Sajjad; Fonseka, Oveena; Schmid, Manuel; Singer, Evie; Hooper, Charlotte; Thomson, Kate; Bagnall, Richard D; Ingles, Jodie; Semsarian, Christopher; Ormondroyd, Elizabeth; Toepfer, Christopher N; Davies, Benjamin; Redwood, Charles; Watkins, Hugh; Gehmlich, Katja

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

肌联蛋白相关家族性扩张型心肌病:与疾病发病相关的因素

Johnson, Renee; Fletcher, Robert A; Peters, Stacey; Ohanian, Monique; Soka, Magdalena; Smolnikov, Andrei; Abihider, Katherine E; Ackerman, Michael J; Ader, Flavie; Akhtar, Mohammed M; Amin, Ahmad S; Ashley, Euan A; Atherton, John J; Austin, Rachel; Baas, Annette F; Bagnall, Richard D; Ross, Samantha Barratt; Blouin, Jean-Louis; Brown, Emily E; Bundgaard, Henning; Cannie, Douglas; Chmielewski, Przemyslaw; Correnti, Gemma; Crespo-Leiro, Maria Generosa; Dal Ferro, Matteo; Dellefave-Castillo, Lisa M; Dominguez, Fernando; Dooijes, Dennis; Dybro, Anne M; Ed Demri, Youssef; El Hachmi, Mohamed; Escobar-Lopez, Luis; Foye, Sarah Jajesnica; Franaszczyk, Maria; Gigli, Marta; Lopez, Esther Gonzalez; Goudal, Adeline; Graw, Sharon; Guipponi, Michel; Haan, Eric; Haas, Jan; Hammersley, Daniel J; Hansen, Frederikke G; Hayward, Christopher S; Hey, Thomas Morris; Heymans, Stephane; Ho, Carolyn Y; Houweling, Arjan C; Ingles, Jodie; Ingrey, Angela; Jabbour, Andrew; James, Paul A; Jansweijer, Joeri A; Jongbloed, Jan D H; Keogh, Anne M; Larrañaga-Moreira, Jose M; Lekanne Deprez, Ronald H; Macciocca, Ivan; Macdonald, Peter S; Mansencal, Nicolas; Mansour, Julia; Martinez-Veira, Cristina; McDonough, Barbara; McGaughran, Julie; Medo, Kristen; Merlo, Marco; Michalak, Ewa; Monserrat, Lorenzo; Mountain, Helen; Muller, Steven A; Murphy, Anne M; Murray, Brittney; Oates, Emily C; Ormondroyd, Elizabeth; Pachter, Nicholas; Paldino, Alessia; Palmyre, Aurélien; Pereira, Naveen L; Picard, Kermshlise C; Poplawski, Nicola; Prasad, Sanjay; Proukhnitzky, Julie; Pruny, Jean-Francois; Reant, Patricia; Richard, Pascale; Ronan, Anne; Sedaghat-Hamedani, Farbod; Semsarian, Christopher; Storm, Garrett; Stroeks, Sophie; Syrris, Petros; Taylor, Matthew R G; Thomson, Kate; Thompson, Tina; van Tintelen, J Peter; Vissing, Christoffer Rasmus; Waddell-Smith, Kathryn E; Wallis, Mathew; Zentner, Dominica; Arnott, Clare; Marian, Ali J; Oh, Jaewon; Fokstuen, Siv; James, Cynthia A; Barriales-Villa, Roberto; Meder, Benjamin; Wahbi, Karim; Giudicessi, John R; Parikh, Victoria N; Ware, James S; Piriou, Nicolas; Rooryck, Caroline; Lakdawala, Neal K; Mestroni, Luisa; Sinagra, Gianfranco; Elliott, Perry M; Watkins, Hugh; McNally, Elizabeth M; Charron, Philippe; van Spaendonck-Zwarts, Karin Y; Garcia-Pavia, Pablo; Peña-Peña, Maria Luisa; Mogensen, Jens; Christensen, Alex Hoerby; Bilińska, Zofia T; Rasmussen, Torsten B; Seidman, Jonathan G; Seidman, Christine E; Te Riele, Anneline S J M; Verdonschot, Job A J; Pinto, Yigal M; Christiaans, Imke; Fatkin, Diane

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

TNNT2 中一种罕见的剪接位点变异:基因组参考数据集需要祖先多样性

Butters, Alexandra; Thomson, Kate; Harrington, Franki; Henden, Natasha; McGuire, Karen; Byrne, Alicia B; Bryen, Samantha; McGurk, Kathryn A; Leask, Megan; Ackerman, Michael J; Atherton, John; Bos, Johan M; Caleshu, Colleen; Day, Sharlene M; Dunn, Kyla; Hayes, Ian; Juang, Jimmy; McGaughran, Julie; Nowak, Natalie; Parikh, Victoria N; Ronan, Anne; Semsarian, Christopher; Tardiff, Jil C; Tiemensma, Marianne; Merriman, Tony R; Ware, James S; Skinner, Jonathan R; MacArthur, Daniel G; Siggs, Owen M; Bagnall, Richard D; Ingles, Jodie

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure

来自“十万基因组计划”的次要(补充)发现:疾病表现、医疗保健结果和信息披露成本

Nolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina; Blair, Edward; Broadgate, Suzanne; Butler, Samantha; Cazeaux, Angela; Craft, Judith; Cranston, Treena; Crawford, Gillian; Forrest, Jamie; Gabriel, Jessica; George, Elaine; Gillen, Donna; Haeger, Ash; Hastings Ward, Jillian; Hawkes, Lara; Hodgkiss, Claire; Hoffman, Jonathan; Jones, Alan; Karpe, Fredrik; Kasperaviciute, Dalia; Kovacs, Erika; Leigh, Sarah; Limb, Elizabeth; Lloyd-Jani, Anjali; Lopez, Javier; Lucassen, Anneke; McFarlane, Carlos; O'Rourke, Anthony W; Pond, Emily; Sherman, Catherine; Stewart, Helen; Thomas, Ellen; Thomas, Simon; Thomas, Tessy; Thomson, Kate; Wakelin, Hannah; Walker, Susan; Watson, Melanie; Williams, Eleanor; Ormondroyd, Elizabeth

Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants

多中心验证功能性检测方法以判定与SCN5A布鲁加达综合征相关的变异

Ma, Joanne G; O'Neill, Matthew J; Richardson, Ebony; Thomson, Kate L; Ingles, Jodie; Muhammad, Ayesha; Solus, Joseph F; Davogustto, Giovanni; Anderson, Katherine C; Shoemaker, M Benjamin; Stergachis, Andrew B; Floyd, Brendan J; Dunn, Kyla; Parikh, Victoria N; Chubb, Henry; Perrin, Mark J; Roden, Dan M; Vandenberg, Jamie I; Ng, Chai-Ann; Glazer, Andrew M

Administration of Nicotine Can Inhibit Myopic Growth in Animal Models

尼古丁给药可抑制动物模型中的近视发展

Thomson, Kate; Karouta, Cindy; Ashby, Regan