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

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation

深入探讨如何提高功能数据的可访问性和可用性,从而释放其在变异解读方面的潜力

Park, Min Seon; Kumar, Runjun D; Ovadiuc, Cristian; Folta, Andrew; McEwen, Abbye E; Snyder, Ashley; Villani, Rehan M; Spurdle, Amanda B; Fowler, Douglas M; Rubin, Alan F; Shirts, Brian H; Starita, Lea M; Stergachis, Andrew B

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

CELF4基因N端区域的杂合变异(该区域对RNA结合活性至关重要)会导致神经发育障碍和肥胖。

Bruel, Ange-Line; Vulto-vanSilfhout, Anneke T; Bilan, Frédéric; Le Guyader, Gwenaël; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlène; Lee, Kristen N; Beil, Adelyn; Suri, Mohnish; Guerin, François; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, François; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N; Wentzensen, Ingrid M; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel

Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation

深入探讨如何提高功能数据的可访问性和可用性,从而释放其在变异解读方面的潜力

Park, Min Seon; Kumar, Runjun D; Ovadiuc, Cristian; Folta, Andrew; McEwen, Abbye E; Snyder, Ashley; Fowler, Douglas M; Rubin, Alan F; Shirts, Brian H; Starita, Lea M; Stergachis, Andrew B

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts

对成人和儿童癌症队列中癌基因和双功能基因中体细胞NMD逃逸变异的分析和解释

Eldomery, Mohammad K; Dieseldorff Jones, Karissa M; Namwanje, Maria; Kumar, Runjun D; Li, Jiaming; Wilkinson, Mark R; Wang, Lu; Klco, Jeffery M; Tang, Li; Neary, Jennifer L; Plon, Sharon E; Blackburn, Patrick R

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

临床外显子组测序揭示婴儿卒中患者中孟德尔遗传病的高发率:一项回顾性分析

Kumar, Runjun D; Meng, Linyan; Liu, Pengfei; Miyake, Christina Y; Worley, Kim C; Bi, Weimin; Lalani, Seema R

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

深内含子变异是既往基因检测结果为阴性的个体中鸟氨酸氨甲酰转移酶(OTC)缺乏症的常见原因。

Kumar, Runjun D; Burrage, Lindsay C; Bartos, Jan; Ali, Saima; Schmitt, Eric; Nagamani, Sandesh C S; LeMons, Cynthia

A TMPRSS2-ERG gene signature predicts prognosis of patients with prostate adenocarcinoma

TMPRSS2-ERG基因特征可预测前列腺腺癌患者的预后

Zhou, Emily; Zhang, Baoyi; Zhu, Kenneth; Schaafsma, Evelien; Kumar, Runjun D; Cheng, Chao

Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types

激酶组体细胞突变分析揭示多种癌症类型的功能丧失突变

Runjun D Kumar, Ron Bose

Statistically identifying tumor suppressors and oncogenes from pan-cancer genome-sequencing data

利用泛癌基因组测序数据,通过统计学方法识别肿瘤抑制基因和癌基因

Kumar, Runjun D; Searleman, Adam C; Swamidass, S Joshua; Griffith, Obi L; Bose, Ron

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

QT间期遗传关联研究凸显钙信号通路在心肌复极化中的作用

Arking, Dan E; Pulit, Sara L; Crotti, Lia; van der Harst, Pim; Munroe, Patricia B; Koopmann, Tamara T; Sotoodehnia, Nona; Rossin, Elizabeth J; Morley, Michael; Wang, Xinchen; Johnson, Andrew D; Lundby, Alicia; Gudbjartsson, Daníel F; Noseworthy, Peter A; Eijgelsheim, Mark; Bradford, Yuki; Tarasov, Kirill V; Dörr, Marcus; Müller-Nurasyid, Martina; Lahtinen, Annukka M; Nolte, Ilja M; Smith, Albert Vernon; Bis, Joshua C; Isaacs, Aaron; Newhouse, Stephen J; Evans, Daniel S; Post, Wendy S; Waggott, Daryl; Lyytikäinen, Leo-Pekka; Hicks, Andrew A; Eisele, Lewin; Ellinghaus, David; Hayward, Caroline; Navarro, Pau; Ulivi, Sheila; Tanaka, Toshiko; Tester, David J; Chatel, Stéphanie; Gustafsson, Stefan; Kumari, Meena; Morris, Richard W; Naluai, Åsa T; Padmanabhan, Sandosh; Kluttig, Alexander; Strohmer, Bernhard; Panayiotou, Andrie G; Torres, Maria; Knoflach, Michael; Hubacek, Jaroslav A; Slowikowski, Kamil; Raychaudhuri, Soumya; Kumar, Runjun D; Harris, Tamara B; Launer, Lenore J; Shuldiner, Alan R; Alonso, Alvaro; Bader, Joel S; Ehret, Georg; Huang, Hailiang; Kao, W H Linda; Strait, James B; Macfarlane, Peter W; Brown, Morris; Caulfield, Mark J; Samani, Nilesh J; Kronenberg, Florian; Willeit, Johann; Smith, J Gustav; Greiser, Karin H; Meyer Zu Schwabedissen, Henriette; Werdan, Karl; Carella, Massimo; Zelante, Leopoldo; Heckbert, Susan R; Psaty, Bruce M; Rotter, Jerome I; Kolcic, Ivana; Polašek, Ozren; Wright, Alan F; Griffin, Maura; Daly, Mark J; Arnar, David O; Hólm, Hilma; Thorsteinsdottir, Unnur; Denny, Joshua C; Roden, Dan M; Zuvich, Rebecca L; Emilsson, Valur; Plump, Andrew S; Larson, Martin G; O'Donnell, Christopher J; Yin, Xiaoyan; Bobbo, Marco; D'Adamo, Adamo P; Iorio, Annamaria; Sinagra, Gianfranco; Carracedo, Angel; Cummings, Steven R; Nalls, Michael A; Jula, Antti; Kontula, Kimmo K; Marjamaa, Annukka; Oikarinen, Lasse; Perola, Markus; Porthan, Kimmo; Erbel, Raimund; Hoffmann, Per; Jöckel, Karl-Heinz; Kälsch, Hagen; Nöthen, Markus M; den Hoed, Marcel; Loos, Ruth J F; Thelle, Dag S; Gieger, Christian; Meitinger, Thomas; Perz, Siegfried; Peters, Annette; Prucha, Hanna; Sinner, Moritz F; Waldenberger, Melanie; de Boer, Rudolf A; Franke, Lude; van der Vleuten, Pieter A; Beckmann, Britt Maria; Martens, Eimo; Bardai, Abdennasser; Hofman, Nynke; Wilde, Arthur A M; Behr, Elijah R; Dalageorgou, Chrysoula; Giudicessi, John R; Medeiros-Domingo, Argelia; Barc, Julien; Kyndt, Florence; Probst, Vincent; Ghidoni, Alice; Insolia, Roberto; Hamilton, Robert M; Scherer, Stephen W; Brandimarto, Jeffrey; Margulies, Kenneth; Moravec, Christine E; del Greco M, Fabiola; Fuchsberger, Christian; O'Connell, Jeffrey R; Lee, Wai K; Watt, Graham C M; Campbell, Harry; Wild, Sarah H; El Mokhtari, Nour E; Frey, Norbert; Asselbergs, Folkert W; Mateo Leach, Irene; Navis, Gerjan; van den Berg, Maarten P; van Veldhuisen, Dirk J; Kellis, Manolis; Krijthe, Bouwe P; Franco, Oscar H; Hofman, Albert; Kors, Jan A; Uitterlinden, André G; Witteman, Jacqueline C M; Kedenko, Lyudmyla; Lamina, Claudia; Oostra, Ben A; Abecasis, Gonçalo R; Lakatta, Edward G; Mulas, Antonella; Orrú, Marco; Schlessinger, David; Uda, Manuela; Markus, Marcello R P; Völker, Uwe; Snieder, Harold; Spector, Timothy D; Ärnlöv, Johan; Lind, Lars; Sundström, Johan; Syvänen, Ann-Christine; Kivimaki, Mika; Kähönen, Mika; Mononen, Nina; Raitakari, Olli T; Viikari, Jorma S; Adamkova, Vera; Kiechl, Stefan; Brion, Maria; Nicolaides, Andrew N; Paulweber, Bernhard; Haerting, Johannes; Dominiczak, Anna F; Nyberg, Fredrik; Whincup, Peter H; Hingorani, Aroon D; Schott, Jean-Jacques; Bezzina, Connie R; Ingelsson, Erik; Ferrucci, Luigi; Gasparini, Paolo; Wilson, James F; Rudan, Igor; Franke, Andre; Mühleisen, Thomas W; Pramstaller, Peter P; Lehtimäki, Terho J; Paterson, Andrew D; Parsa, Afshin; Liu, Yongmei; van Duijn, Cornelia M; Siscovick, David S; Gudnason, Vilmundur; Jamshidi, Yalda; Salomaa, Veikko; Felix, Stephan B; Sanna, Serena; Ritchie, Marylyn D; Stricker, Bruno H; Stefansson, Kari; Boyer, Laurie A; Cappola, Thomas P; Olsen, Jesper V; Lage, Kasper; Schwartz, Peter J; Kääb, Stefan; Chakravarti, Aravinda; Ackerman, Michael J; Pfeufer, Arne; de Bakker, Paul I W; Newton-Cheh, Christopher