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

Genetics of skeletal proportions across two different populations

两个不同人群骨骼比例的遗传学研究

Bartell, Eric; Lin, Kuang; Tsuo, Kristin; Gan, Wei; Vedantam, Sailaja; Cole, Joanne B; Baronas, John M; Yengo, Loic; Marouli, Eirini; Amariuta, Tiffany; Chen, Zhengming; Li, Liming; Renthal, Nora E; Jacobsen, Christina M; Salem, Rany M; Walters, Robin G; Hirschhorn, Joel N

Exome-Wide Analysis Identifies a Rare EXD3 Missense Variant Associated With Diabetic Kidney Disease

全外显子组分析发现一种与糖尿病肾病相关的罕见EXD3错义变异

Sandholm, Niina; Cole, Joanne B; Nair, Viji; Brennan, Eoin; Giardini, Elena; Haukka, Jani K; Ha, Eunji; Syreeni, Anna; Dahlström, Emma H; Salem, Rany M; Fermin, Damian; Mercader, Josep; Smyth, Laura; Hill, Claire; Mychaleckyj, Josyf; McGurnaghan, Stuart; Miller, Rachel G; Costacou, Tina; Klein, Barbara E K; Snell-Bergeon, Janet; Paterson, Andrew D; Verkauskiene, Rasa; Sokolovska, Jelizaveta; Panduru, Nicolae Mircea; Zerbini, Gianpaolo; Brismar, Kerstin; Krolewski, Andrzej S; Harjutsalo, Valma; Rossing, Peter; Hadjadj, Samy; McKay, Gareth; McKnight, Amy Jayne; Maxwell, Alexander P; Susztak, Katalin; Godson, Catherine; Kretzler, Matthias; Hirschhorn, Joel N; Florez, Jose C; Groop, Per-Henrik

Genome-Wide Association Study of Quantitative Kidney Function in 52,531 Individuals with Diabetes Identifies Five Diabetes-Specific Loci

一项针对52531名糖尿病患者肾功能定量分析的全基因组关联研究,发现了五个糖尿病特异性基因位点

Cole, Joanne B; Dahlström, Emma H; Fermin, Damian; Gupta, Yogesh; Hill, Claire; Smyth, Laura J; Liu, Hongbo; Kreienkamp, Raymond J; Pezzolesi, Marcus G; Cao, Jing Jing; Valo, Erkka; Chen, Wei-Min; Onengut-Gumuscu, Suna; Rich, Stephen S; Brennan, Eoin P; Andrews, Darrell; Kennedy, Ciarán; Gu, Harvest F; Stechemesser, Lars; Weitgasser, Raimund; Sokolovska, Jelizaveta; Radzeviciene, Lina; Verkauskiene, Rasa; Panduru, Nicolae M; Rossing, Peter; Ahluwalia, Tarunveer S; Zerbini, Gianpaolo; Marre, Michel; Hadjadj, Samy; Costacou, Tina; Miller, Rachel G; Klein, Barbara E; Lee, Kristine E; Snell-Bergeon, Janet K; Caramori, Maria Luiza; Mauer, Michael; Brismar, Kerstin; Bjornstad, Petter; McKnight, Amy J; McKay, Gareth; Nair, Viji; Salem, Rany M; Groop, Per-Henrik; Godson, Catherine; Susztak, Katalin; Kretzler, Matthias; Maxwell, Alexander P; Krolewski, Andrzej; Paterson, Andrew; Sandholm-Lafferre, Niina; Florez, Jose C; Hirschhorn, Joel N

Kinship Decouple and Phenotype Selection (KDPS): a tool for phenotype-aware decoupling of related subjects

亲缘关系解耦与表型选择(KDPS):一种基于表型感知的亲缘对象解耦工具

Gu, Wanjun; Xi, Jiachen; Cao, Steven; Salem, Rany M

Association of gestational and childhood circulating C-peptide concentrations in the hyperglycemia and adverse pregnancy outcomes follow-up study

高血糖与不良妊娠结局随访研究中妊娠期和儿童期循环C肽浓度的相关性

Rajamoorthi, Ananthi; Zheng, Hao; Skowronski, Alicja A; Zork, Noelia; Reddy, Uma M; Tung, Pei Wen; Kupsco, Allison; Gallagher, Dympna; Salem, Rany M; Leibel, Rudolph L; LeDuc, Charles A; Thaker, Vidhu V

Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes

安第斯人适应性PRKAA1变异与改善的通气和睡眠表型相关

Elijah S Lawrence ,Wanjun Gu ,Mitchell C Kong ,Santiago Fassardi ,Cecilia Anza-Ramirez ,Esteban A Moya ,Erica C Heinrich ,James J Yu ,Jeremy E Orr ,Steven Y Cao ,Ana Sanchez-Azofra ,Amy M Cole ,James E Hall ,Andrew Lin ,Pamala N DeYoung ,Gustavo Vizcardo-Galindo ,Jose-Luis Macarlupu ,Rómulo Figueroa-Mujíca ,Daniela Bermudez ,Noemi Corante ,Gianpiero L Cavalleri ,Eduardo Gaio ,A Mark Evans ,Frank L Powell ,Atul Malhotra ,Rany M Salem ,Francisco C Villafuerte ,Tatum S Simonson

GenVarLoader: An accelerated dataloader for applying deep learning to personalized genomics

GenVarLoader:一种用于将深度学习应用于个性化基因组学的加速数据加载器

Laub, David; Ho, Aaron; Jaureguy, Jeff; Klie, Adam; Salem, Rany M; McVicker, Graham; Carter, Hannah

Effects of genetically predicted posttraumatic stress disorder on autoimmune phenotypes

基因预测的创伤后应激障碍对自身免疫表型的影响

Maihofer, Adam X; Ratanatharathorn, Andrew; Hemmings, Sian M J; Costenbader, Karen H; Michopoulos, Vasiliki; Polimanti, Renato; Rothbaum, Alex O; Seedat, Soraya; Mikita, Elizabeth A; Smith, Alicia K; Salem, Rany M; Shaffer, Richard A; Wu, Tianying; Sebat, Jonathan; Ressler, Kerry J; Stein, Murray B; Koenen, Karestan C; Wolf, Erika J; Sumner, Jennifer A; Nievergelt, Caroline M

Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome

多囊卵巢综合征遗传易感性的儿科特征

Zhu, Jia; Eliasen, Anders U; Aris, Izzuddin M; Stinson, Sara E; Holm, Jens-Christian; Hansen, Torben; Hivert, Marie-France; Bønnelykke, Klaus; Salem, Rany M; Hirschhorn, Joel N; Chan, Yee-Ming

Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism

常见遗传变异对体质性青春期延迟和特发性低促性腺激素性性腺功能减退症的影响

Lippincott, Margaret F; Schafer, Evan C; Hindman, Anna A; He, Wen; Brauner, Raja; Delaney, Angela; Grinspon, Romina; Hall, Janet E; Hirschhorn, Joel N; McElreavey, Kenneth; Palmert, Mark R; Rey, Rodolfo; Seminara, Stephanie B; Salem, Rany M; Chan, Yee-Ming