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D

Dong Li

children's hospital of philadelphia

45H指数
361论文数
8.2K被引数
收录论文 118
发表时间
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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders剪接因子基因SF3B1的从头变异与神经发育障碍有关
errNature Communications
IF15.7
err2026-01-23
err0
errOAAI
errKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
err分享
err收藏
Experimental insights into MMACHC variants using a novel minigene system使用新型迷你基因系统对MMACHC变异的实验研究
errMolecular Genetics and Metabolism
IF3.5
err2025-11-17
err0
PREAI
errYan Dong; Xiaowei Xu; Weiran Li; Leyi Wang; Bo Wu; Ping Wang; Dong Li; Jianbo Shu; Chunquan Cai
err分享
err收藏
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionSMARCA1的致病变异引起由NURF复合物组成调节的X连锁神经发育障碍
errNature Communications
IF15.7
err2025-11-10
err0
errOAAI
errGhayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
err分享
err收藏
Tetramethylpyrazine modulates airway inflammation and remodeling in bronchial asthma: A reviewTetramethylpyrazine modulates airway inflammation and remodeling in bronchial asthma: A review 四甲基吡嗪调节支气管哮喘中的气道炎症和重塑：综述
errCLINICS
IF2.4
err2025-09-01
err0
errOAAI
errHan, Zichao; Yu, Fei; Ding, Zhen; Liu, Qinghua; Zheng, Xiangyi; Zhang, Lijuan; Li, Dong; Wang, Chao
err分享
err收藏
Swept-source Optical Coherence Tomography Angiography Features of Melanotic Choroidal Tumors: An Analysis of 102 Consecutive Cases黑色素性脉络膜肿瘤的扫频源光学相干断层扫描血管成像特征：102例连续病例分析
errOphthalmology Science
IF4.6
err2025-08-29
err0
errOAAI
errRuiheng Zhang; Haotian Wu; Yitong Li; Wenda Zhou; Xuhan Shi; Chuyao Yu; Yuhang Yang; Hanqing Zhao; Heyan Li; Shanshan Wang; Jiaoyue Dong; Li Dong; Lei Shao; Yaling Liu; Xinyu Zhao; Zhen Yu; Guomin Zhang; Yueming Liu; Wenbin Wei
err分享
err收藏
Comparative plastome analysis reveals evolutionary dynamics and codon usage patterns in Bidens (Asteraceae)比较叶绿体基因组分析揭示了Bidens (Asteraceae)的进化动态和密码子使用模式
errFunctional & Integrative Genomics
IF3.1
err2025-08-27
err0
PREAI
errYing Xue; Shaowei Qin; Zhangchen Xianyu; Haodi Wang; Jialei Yu; Xiaoyan Zhao; Xingxing Liang; Dong Li; Yunpeng Gai
err分享
err收藏
Swept-source optical coherence tomography features of choroidal tumors and tumor mimics: A 5-year retrospective studyswept-source光学相干断层扫描特征在脉络膜肿瘤与肿瘤样病变中的应用：一项为期5年的回顾性研究
errPHOTODIAGNOSIS AND PHOTODYNAMIC THERAPY
IF2.6
err2025-06-01
err0
errOAAI
errZhang, Ruiheng; Li, Yitong; Dong, Li; Zhou, Wenda; Wei, Wenbin
err分享
err收藏
Citric acid impairs type B trichothecene biosynthesis of Fusarium graminearum but enhances its growth and pigment biosynthesis: transcriptomic and proteomic analyses柠檬酸抑制 Fusarium graminearum 的B型单端孢霉烯生物合成，但促进其生长和色素生物合成：转录组学和蛋白质组学分析
errAPPLIED AND ENVIRONMENTAL MICROBIOLOGY
IF3.7
err2025-05-14
err0
errOAAI
errCai, Luzhou; Li, Ling; Li, Dong; Wu, Yanping; Bai, Jinrong; Zhong, Kai; Gao, Hong
err分享
err收藏
A robust diagnostic model for high-risk MASH: integrating clinical parameters and circulating biomarkers through a multi-omics approach一种用于高风险MASH的稳健诊断模型：通过多组学方法整合临床参数和循环生物标志物
errHEPATOLOGY INTERNATIONAL
IF6.1
err2025-04-09
err0
PREAI
errZhang, Jie; Wang, Wei; Wang, Xiao-Qing; Hao, Hai-Rong; Hu, Wen; Ding, Zong-Li; Dong, Li; Liang, Hui; Zhang, Yi-Yuan; Kong, Lian-Hua; Xie, Ying
err分享
err收藏
Genetically predicted inflammatory proteins mediate the association between gut microbiota and renal cell carcinoma遗传预测的炎症蛋白介导了肠道微生物群与肾细胞癌之间的关联
errDISCOVER ONCOLOGY
IF2.9
err2025-02-20
err0
errOAAI
errZou, Xinyun; Li, Dong; Zhang, Ling; Shen, Jinlan
err分享
err收藏
RICTOR variants are associated with neurodevelopmental disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-30
err0
PREAI
errCarapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak
err分享
err收藏
Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1BNESP55/NESPAS的复发性小变异与广泛的GNAS甲基化缺陷和1B型假性甲状旁腺功能减退症相关
errJCI INSIGHT
IF6.1
err2024-12-20
err0
errOAAI
errLi, Dong; de Beur, Suzanne Jan; Hou, Cuiping; Ruzhnikov, Maura R. Z.; Seeley, Hilary; Cutting, Garry R.; Sheridan, Molly B.; Levine, Michael A.
err分享
err收藏
Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets
errJBMR PLUS
IF2.4
err2024-11-19
err0
errOAAI
errAlzoebie, Lama; Li, Dong; Wang, Xiang; Weber, David R.; Levine, Michael A.
err分享
err收藏
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/(3-catenin signaling有害的ZNRF3种系变体通过对Wnt/(3-catenin信号传导的结构域特异性作用引起具有镜像脑表型的神经发育障碍
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-09-01
err0
errOAAI
errBoonsawat, Paranchai; Asadollahi, Reza; Niedrist, Dunja; Steindl, Katharina; Begemann, Anais; Joset, Pascal; Bhoj, Elizabeth J.; Li, Dong; Zackai, Elaine; Vetro, Annalisa; Barba, Carmen; Guerrini, Renzo; Whalen, Sandra; Keren, Boris; Khan, Amjad; Jing, Duan; Bralo, Maria Palomares; Orozco, Emi Rikeros; Hao, Qin; Kristiansen, Britta Schlott; Zheng, Bixia; Donnelly, Deirdre; Clowes, Virginia; Zweier, Markus; Papik, Michael; Siegel, Gabriele; Sabatino, Valeria; Mocera, Martina; Horn, Anselm H. C.; Sticht, Heinrich; Rauch, Anita
err分享
err收藏
LINE-1 transposable element renaissance in aging and age-related diseases
errAGEING RESEARCH REVIEWS
IF12.4
err2024-09-01
err1
PREAI
errLi, Xiang; Yu, Huaxin; Li, Dong; Liu, Na
err分享
err收藏
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene A Clinical Report
errNEUROLOGY-CLINICAL PRACTICE
IF3.2
err2024-06-01
err1
PREAI
errLanvin, Pierre-Louis; Li, Dong; Conrad, Solene; Magot, Armelle; Micaelli, Xavier; Pereon, Yann; Vincent, Marie; Isidor, Bertrand; Sternberg, Damien; McCormick, Elizabeth M.; Hakonarson, Hakon; Mercier, Sandra; Falk, Marni J.
err分享
err收藏
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
errPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
err2024-03-11
err0
errOAAI
errPisan, Elise; De Luca, Chiara; Brancati, Francesco; Russo, Rossana Sanchez; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux -Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjorg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E.; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D.; Corona, Rosario I.; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K.; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordona, Christopher T.
err分享
err收藏
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features剪接体功能异常导致具有重叠特征的神经发育障碍
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2024-01-02
err6
errOAAI
errLi, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
err分享
err收藏
Steam explosion pretreatment enhances free/combined phytosterol extraction and utilization in rapeseed (Brassica napus L.) and its processed products: Insights from SPE-GC approach
errCURRENT RESEARCH IN FOOD SCIENCE
IF7
err2024-01-01
err0
errOAAI
errWang, Dan; Li, Dong; Xu, Qiuhui; Lv, Xin; Chen, Hong; Wei, Fang
err分享
err收藏
Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes
errJOURNAL OF HEPATOLOGY
IF33
err2023-12-01
err10
errOAAI
errGlessner, Joseph T.; Ningappa, Mylarappa B.; Ngo, Kim A.; Zahid, Maliha; So, Juhoon; Higgs, Brandon W.; Sleiman, Patrick M. A.; Narayanan, Tejaswini; Ranganathan, Sarangarajan; March, Michael; Prasadan, Krishna; Vaccaro, Courtney; Reyes-Mugica, Miguel; Velazquez, Jeremy; Salgado, Claudia M.; Ebrahimkhani, Mo R.; Schmitt, Lori; Rajasundaram, Dhivyaa; Paul, Morgan; Pellegrino, Renata; Gittes, George K.; Li, Dong; Wang, Xiang; Billings, Jonathan; Squires, Robert; Ashokkumar, Chethan; Sharif, Khalid; Kelly, Deirdre; Dhawan, Anil; Horslen, Simon; Lo, Cecilia W.; Shin, Donghun; Subramaniam, Shankar; Hakonarson, Hakon; Sindhi, Rakesh
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
N
Nicholas G. Martin
H 指数: 221 · 论文数: 2.8K
B
Brenda W.J.H. Penninx
H 指数: 210 · 论文数: 1.8K
D
Dorret I. Boomsma
H 指数: 202 · 论文数: 2.4K
R
Richard A. Gibbs
H 指数: 190 · 论文数: 1.3K
G
Grant W. Montgomery
H 指数: 188 · 论文数: 1.2K
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