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E

Eric W. Klee

Mayo Clinic

54H指数
461论文数
1.1W被引数
收录论文 155
发表时间
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A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies一种位于RAD21结合界面的新型De Novo STAG1变异与低血糖、反复发热、免疫缺陷和经典粘着素病特征相关
errClinical Genetics
IF2.3
err2026-09-27
err0
PREAI
errHafiz Muhammad Jafar Hussain; Michael Zimmermann; Stephanie L. Safgren; Joseph D. Farris; Deepak Panwar; Sarah Allen Thurman; Karthik Muthusamy; Raul Urrutia; Myra J. Wick; Filippo Pinto e Vairo; Eric W. Klee
err分享
err收藏
Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression基于电子健康记录关联的全基因组队列对代谢功能障碍相关脂肪性肝病的分型揭示其病因和进展的多样性
errNature Communications
IF15.7
err2026-09-02
err0
errOAAI
errTahmina Sultana Priya; Huihuang Yan; Kirk J. Wangensteen; Stephen Wu; Anthony C. Luehrs; Filippo Pinto e Vairo; Fan Leng; Andres J. Acosta; Robert A. Vierkant; Alina M. Allen; Konstantinos N. Lazaridis; Eric W. Klee; Danfeng Daphne Yao; Shulan Tian
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err收藏
Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical VariantsGenexus集成测序仪上针对广泛临床变异的自定义髓系检测性能评估
errJournal of Molecular Diagnostics
IF3.4
err2026-08-01
err0
PREAI
errDina, Michelle A.; Blommel, Joseph H.; Balan, Jagadheshwar; Sankaranarayanan, Saranya; Burke, Jennifer E.; Sedova, Marina; Jianjun, Jim; Jerde, Calvin R.; Henry, Justin N.; Voss, Jesse S.; Klee, Eric W.; Kipp, Benjamin R.; Sherlock, Jon; Sadis, Seth; Viswanatha, David S.; Murphy, Stephen J.
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err收藏
Machine Learning With Genetic and Clinical Data to Predict Ischemic Outcomes After PCI结合遗传和临床数据，利用机器学习预测PCI术后缺血性结局
errClinical and Translational Science
IF2.8
err2026-07-09
err0
errOAAI
errCaroline W. Grant; Brenden S. Ingraham; Ryan J. Lennon; Anvi Raina; Shulan Tian; Gurukripa Kowlgi; Larisa H. Cavallari; Craig R. Lee; Amber Beitelshees; Dominick J. Angiolillo; Francesco Franchi; Julio D. Duarte; Joseph S. Rossi; George A. Stouffer; Eric Klee; Rajiv Gulati; Charanjit Rihal; Michael Farkouh; Arjun P. Athreya; Naveen L. Pereira
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Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics揭示GYG1肌病的复合杂合性：RNA测序和长读长基因组学的诊断见解
errClinical Genetics
IF2.3
err2026-04-01
err0
PREAI
errPanwar, Deepak; Farris, Joseph D.; Schmidt, Danielle; Blake, Emily J.; Tan, Jia W.; Naddaf, Elie; Sonnen, Joshua; Vairo, Filippo Pinto e; Lambert, Laura J.; Wierenga, Klaas J.; Muthusamy, Karthik; Klee, Eric W.
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err收藏
Genomic profiling reveals molecular heterogeneity in patients with Richter transformation (RT) and chronic lymphocytic leukemia (CLL)基因组分析揭示了Richter transformation (RT)和chronic lymphocytic leukemia (CLL)患者中的分子异质性。
errLEUKEMIA RESEARCH
IF2.2
err2025-11-01
err0
errOAAI
errTian, Shulan; Wang, Hanyin; Parikh, Sameer A.; Liu, Yuanhang; Jin-Lee, Helen; Jessen, Erik; Klee, Eric W.; Wang, Yucai; Leng, Fan; Shi, Min; Zepeda-Mendoza, Cinthya; He, Rong; Kenderian, Saad J.; Baughn, Linda B.; Van Dyke, Daniel L.; Hampel, Paul J.; Kay, Neil E.; Braggio, Esteban; Slager, Susan L.; Yan, Huihuang; Ding, Wei
err分享
err收藏
Novel Identification of Genetic Variants in Musculoskeletal Pathways Implicated in Familial Femoroacetabular Impingement
errJOURNAL OF ORTHOPAEDIC RESEARCH
IF2.3
err2025-10-01
err0
PREAI
errWyles, Cody C.; Trousdale, William H.; Paradise, Christopher R.; Trousdale, Robert T.; Klee, Eric W.; Sierra, Rafael J.
err分享
err收藏
Individualized Medicine in the Era of Artificial Intelligence人工智能时代的个性化医学
errMayo Clinic Proceedings
IF6.7
err2025-10-01
err0
PREAI
errKonstantinos N. Lazaridis; Eric W. Klee; Timothy B. Curry; Victor E. Ortega; William V. Bobo; Arjun P. Athreya; Rebekah M. Samsonraj
err分享
err收藏
DMD Duplications Identified by Carrier Screening Should NOT Automatically Be Classified as [Likely] Pathogenic: Data from Long-Read Sequencing of 15 Cases通过携带者筛查鉴定的DMD重复变异不应自动归类为[可能]致病性：15例长读长测序数据
errCLINICAL CHEMISTRY
IF6.3
err2025-10-01
err0
errOAAI
errHasadsri, Linda; Ding, Qiliang; Balan, Jagadheshwar; Vidal-Folch, Noemi; Pickart, Angela; Sun, Guangchao; Walsh, Jesse; Majumdar, Ramanath; Klee, Eric; Murphy, Stephen; Oglesbee, Devin; Rowsey, Ross
err分享
err收藏
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing重新思考通过携带者筛查检测到的基因内DMD重复片段的致病性：长读长测序揭示了非串联重复片段的高发生率
errGenetics in Medicine
IF6.2
err2025-08-05
err0
PREAI
errQiliang Ding; Jagadheshwar Balan; Noemi Vidal-Folch; Angela M. Pickart; Guangchao Sun; Jesse R. Walsh; Ramanath Majumdar; Eric W. Klee; Stephen J. Murphy; Devin Oglesbee; Ross A. Rowsey; Linda Hasadsri
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err收藏
Clinical Bioinformatician Body of Knowledge—Bioinformatics and Software Core临床生物信息学家知识体系—生物信息学与软件核心
errmolecular diagnostics
IF0
err2025-05-19
err0
PREAI
errSabah Kadri; Kelly E. Craven; Amber M. Fussell; Elaine P.S. Gee; Danielle Jordan; Eric W. Klee; Niklas Krumm; Robyn L. Temple-Smolkin; Ahmet Zehir; Weiwei Zhang; Andrea Sboner
err分享
err收藏
A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditions基于临床知识图谱的框架，用于优先考虑候选基因以促进孟德尔疾病和罕见遗传状况的诊断
errBMC BIOINFORMATICS
IF3.3
err2025-03-14
err0
errOAAI
errGnanaolivu, Rohan; Oliver, Gavin; Jenkinson, Garrett; Blake, Emily; Chen, Wenan; Chia, Nicholas; Klee, Eric W.; Wang, Chen
err分享
err收藏
Expanding Upon Genomics in Rare Diseases: Epigenomic Insights拓展罕见病中的基因组学：表观基因组学洞见
errINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF4.9
err2024-12-27
err0
errOAAI
errTan, Jia W.; Blake, Emily J.; Farris, Joseph D.; Klee, Eric W.
err分享
err收藏
Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education
errMAYO CLINIC PROCEEDINGS
IF6.7
err2024-12-01
err1
PREAI
errBandel, Lorelei A.; Vierkant, Robert A.; Kruisselbrink, Teresa M.; Bublitz, Michelle L.; Wilson, Tammy A.; Armasu, Sebastian M.; Egan, Jan B.; Presutti, Richard J.; Samadder, Niloy Jewel J.; Sekulic, Aleksandar; Olson, Rory J.; Tan-Arroyo, Jennifer; Morales-Rosado, Joel A.; Klee, Eric W.; Ferber, Matthew J.; Kemppainen, Jennifer L.; Anderson, Jennifer L.; Bidwell, Jessa S.; Wick, Joseph J.; Ortega, Victor E.; Bobo, William, V; Pichurin, Pavel N.; Mcmillan, Jessica M.; Weaver, DeAnna M.; Riegert-Johnson, Douglas L.; Cera, Alanna M.; Boucher, Lauren M.; Kullo, Iftikhar J.; Mantia, Sarah K.; Jones, Matthew T.; Larson, Nicholas B.; Luehrs, Tony C.; Leitzke, Jon W.; Sicotte, Hugues; Tian, Shulan; Stavlund, Jennifer R.; Pacyna, Joel E.; Sharp, Richard R.; Asabere, Akwasi A.; Lu, James; Mcallister, Tammy M.; Walker, T'Nita S.; Stewart, A. Keith; Farrugia, Gianrico; Lazaridis, Konstantinos N.
err分享
err收藏
Prevalence, Penetrance, and Phenotypic Manifestation of Incidental Cardiomyopathy-Associated Genetic Variants in a Quaternary Medical Center-based Population偶发心肌病相关基因变异的患病率、外显率和表型表现：一项基于三级医学中心人群的研究
errCIRCULATION
IF38.6
err2024-11-12
err0
PREAI
errFigueiral, Marta; Fazzini, Luca; Tan-Arroyo, Jennifer; Olson, Rory; Bublitz, Josh; Olson, Janet; Klee, Eric; Pereira, Naveen
err分享
err收藏
Development and Validation of Machine Learning-based Ischemic Outcome Prediction Using Clinical and Genetic Data in Patients with Percutaneous Coronary Intervention基于临床和遗传数据的机器学习缺血结局预测的开发与验证：经皮冠状动脉介入治疗患者研究
errCIRCULATION
IF38.6
err2024-11-12
err0
PREAI
errGrant, Caroline; Kowlgi, Gurukripa; Lennon, Ryan; Cavallari, Larisa; Lee, Craig; Beitelshees, Amber; Angiolillo, Dominick; Franchi, Francesco; Duarte, Julio; Rossi, Joe; Stouffer, George; Klee, Eric; Gulati, Rajiv; Lerman, Amir; Rihal, Charanjit; Farkouh, Michael; Athreya, Arjun; Pereira, Naveen
err分享
err收藏
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-11-01
err1
errOAAI
errGong, Maolei; Li, Jiayi; Qin, Zailong; Wilke, Matheus Vernet Machado Bressan; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel A.; Cohen, Ana S. A.; Hughes, Susan S.; Sullivan, Bonnie R.; Waddell, Valerie; van den Boogaard, Marie-Jose H.; van Jaarsveld, Richard H.; van Binsbergen, Ellen; van Gassen, Koen L.; Wang, Tianyun; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley, V; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole J.; Ferber, Matthew J.; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques L.; Koboldt, Daniel C.; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laila; Haque, Neshatul; Dsouza, Nikita R.; Zimmermann, Michael T.; Urrutia, Raul; Klee, Eric W.; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli
err分享
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Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study普通人群中与心肌病相关的遗传变异的患病率，外显率和表型表现: 来自Mayo Clinic生物库研究的见解
errMAYO CLINIC PROCEEDINGS
IF6.7
err2024-11-01
err0
PREAI
errFigueiral, Marta; Paldino, Alessia; Wilke, Matheus Vernet Machado Bressan; Farris, Joseph D.; Verheijen, Jan; Giudicessi, John R.; Ackerman, Michael J.; Olson, Janet E.; Arroyo, Jennifer; Olson, Rory J.; Klee, Eric W.; Pereira, Naveen L.
err分享
err收藏
OmicsFootPrint: a framework to integrate and interpret multi-omics data using circular images and deep neural networksOmicsFootPrint: 使用圆形图像和深度神经网络集成和解释多组学数据的框架
errNUCLEIC ACIDS RESEARCH
IF13.1
err2024-10-24
err0
errOAAI
errTang, Xiaojia; Prodduturi, Naresh; Thompson, Kevin J.; Weinshilboum, Richard; O'Sullivan, Ciara C.; Boughey, Judy C.; Tizhoosh, Hamid R.; Klee, Eric W.; Wang, Liewei; Goetz, Matthew P.; Suman, Vera; Kalari, Krishna R.
err分享
err收藏
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderCUL3中的功能丧失变体导致综合征性神经发育障碍
errANNALS OF NEUROLOGY
IF7.7
err2024-09-20
err2
PREAI
errBlackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun
err分享
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研究方向

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合作学者
合作期刊
E
Evan E. Eichler
H 指数: 191 · 论文数: 864
S
Stephen W. Scherer
H 指数: 161 · 论文数: 1.1K
S
Steven M. Holland
H 指数: 155 · 论文数: 1.9K
M
Michael J. Ackerman
H 指数: 154 · 论文数: 1.4K
T
Thomas J. Wang
H 指数: 140 · 论文数: 870
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