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E. Maxwell · SciRah

Researcher profile · Semantic Scholar

E. Maxwell

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E. Maxwell — researcher profile on SciRah

h-index: 21
Works: 38
Citations: 4,424

Most-cited papers

Computationally efficient whole-genome regression for quantitative and binary traits
J. Mbatchou, Leland Barnard, J. Backman, A. Marcketta +13 more
2020Nature Genetics1,338 citations Open access
Semantic Scholar
Exome sequencing and analysis of 454,787 UK Biobank participants
J. Backman, Alexander Li, A. Marcketta, Dylan Sun +37 more
2021Nature831 citations Open access
Semantic Scholar
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
C. V. van Hout, I. Tachmazidou, J. Backman, Joshua D. Hoffman +47 more
2020Nature469 citations Open access
Semantic Scholar
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
C. Boer, K. Hatzikotoulas, L. Southam, L. Stefánsdóttir +151 more
2021Cell433 citations Open access
Semantic Scholar
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
S. Jurgens, Seung-Ho-An Choi, Valerie N. Morrill, M. Chaffin +66 more
2022Nature Genetics146 citations Open access
Semantic Scholar
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
J. Szustakowski, S. Balasubramanian, E. Kvikstad, S. Khalid +107 more
2021Nature Genetics143 citations Open access
Semantic Scholar
Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes
Dina Mansour Aly, O. Dwivedi, R. Prasad, A. Käräjämäki +48 more
2021Nature Genetics134 citations
Semantic Scholar
Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank
C. V. van Hout, I. Tachmazidou, J. Backman, Joshua Hoffman +45 more
2019bioRxiv122 citations Open access
Semantic Scholar
A deep catalogue of protein-coding variation in 983,578 individuals
Kathie Y. Sun, Xiao-Dong Bai, Si-Ying Chen, Su-Ying Bao +44 more
2024Nature94 citations Open access
Semantic Scholar
CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data
Jonathan S. Packer, E. Maxwell, C. O'Dushlaine, A. Lopez +6 more
2015Bioinform.94 citations Open access
Semantic Scholar
Genotyping, sequencing and analysis of 140,000 adults from Mexico City
A. Ziyatdinov, J. Torres, J. Alegre-Díaz, J. Backman +45 more
2023Nature91 citations Open access
Semantic Scholar
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
J. Kosmicki, J. Horowitz, N. Banerjee, R. Lanche +77 more
2021American Journal of Human Genetics85 citations Open access
Semantic Scholar
Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes
Jeffrey Staples, E. Maxwell, Nehal Gosalia, C. Gonzaga-Jauregui +23 more
2017bioRxiv66 citations Open access
Semantic Scholar
Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
C. Martin, K. Wain, M. Oetjens, K. Tolwinski +8 more
2020JAMA psychiatry64 citations Open access
Semantic Scholar
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease
C. Tcheandjieu, K. Xiao, H. Tejeda, J. Lynch +99 more
2022Nature Genetics47 citations Open access
Semantic Scholar
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes
A. Deaton, M. Parker, L. D. Ward, A. Flynn-Carroll +89 more
2021Scientific Reports43 citations Open access
Semantic Scholar
Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data from European ancestry individuals
R. Kember, A. Merikangas, S. Verma, A. Verma +43 more
2020Biological Psychiatry41 citations Open access
Semantic Scholar
Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone
Michael E. Dunn, A. Kithcart, Jee Hae Kim, A. Ho +188 more
2024Nature31 citations Open access
Semantic Scholar
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
S. Choi, S. Jurgens, Ling Xiao, M. Hill +496 more
2025Nature Genetics29 citations Open access
Semantic Scholar
Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank
Sheila M. Gaynor, Tyler Joseph, Xiao-Dong Bai, Yu-Xin Zou +16 more
2023Nature Genetics28 citations Open access
Semantic Scholar
Open-source mapping and variant calling for large-scale NGS data from original base-quality scores
O. Krasheninina, Yih-Chii Hwang, Xiao-Dong Bai, Adam Zalcman +3 more
2020bioRxiv23 citations Open access
Semantic Scholar
The impact of common and rare genetic variants on bradyarrhythmia development
Lu-Chen Weng, Joel T. Rämö, S. Jurgens, S. Khurshid +103 more
2025Nature Genetics20 citations Open access
Semantic Scholar
Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study
A. Ziyatdinov, J. Torres, J. Alegre-Díaz, J. Backman +40 more
2022bioRxiv14 citations Open access
Semantic Scholar
A deep catalog of protein-coding variation in 985,830 individuals
Kathie Y. Sun, Xiao-Dong Bai, Si-Ying Chen, S. Bao +42 more
2023bioRxiv13 citations Open access
Semantic Scholar
Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
E. Maxwell, Jonathan S. Packer, C. O'Dushlaine, Shane E. McCarthy +34 more
2017bioRxiv8 citations Open access
Semantic Scholar
Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study.
Eric Manderstedt, C. Halldén, C. Lind-Halldén, Johan Elf +54 more
2021Circulation Genomic and Precision Medicine7 citations
Semantic Scholar
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants
Brenda M. Finucane, M. Oetjens, Alicia M. Johns, Scott M. Myers +7 more
2021Genetics in Medicine6 citations Open access
Semantic Scholar
Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource
Christopher Koch, Shareef Khalid, M. Khan, Shruthi Bandyadka +247 more
2026Nature5 citations Open access
Semantic Scholar
Insights from the Biorepository and Integrative Genomics pediatric resource
S. Buonaiuto, Franco Marsico, A. Mohammed, L. Chinthala +190 more
2025Nature Communications5 citations Open access
Semantic Scholar
FNIP1 variants are associated with favourable metabolism in 1 million humans
G. Hindy, Rene C. Adam, O. Sosina, Dwaine Pryce +364 more
2026Nature3 citations Open access
Semantic Scholar
Thrombotic risk determined by ABO, F8, and VWF variants in a population-based cohort study
Eric Manderstedt, C. Halldén, C. Lind-Halldén, Johan Elf +45 more
2025Research and Practice in Thrombosis and Haemostasis3 citations Open access
Semantic Scholar
Polygenic scores for risk of pancreatic ductal adenocarcinoma: evaluation of novel and published models
S. Antwi, B. Coombes, Erin E. Carlson, Nicholas B. Larson +247 more
2026npj Precision Oncology1 citations Open access
Semantic Scholar
Tissue factor (F3) gene variants and thrombotic risk among middle-aged and older adults: a population-based cohort study
Eric Manderstedt, C. Lind-Halldén, C. Halldén, Johan Elf +181 more
2024Thrombosis Update1 citations Open access
Semantic Scholar
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City
A. Ziyatdinov, J. Torres, J. Alegre-Díaz, J. Backman +43 more
2024Nature1 citations Open access
Semantic Scholar
KaryoScan: abnormal karyotype detection from whole-exome sequence
E. Maxwell, C. Gonzaga-Jauregui, S. Mccarthy, C. O'Dushlaine +12 more
2017bioRxiv1 citations Open access
Semantic Scholar
Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals
Kathie Y. Sun, Xiao-Dong Bai, Si-Ying Chen, Su-Ying Bao +44 more
2025Nature0 citations Open access
Semantic Scholar
Peer Review #1 of "Local ancestry prediction with PyLAE (v0.2)"
Nikita Moshkov, А. Е. Сметанин, T. Tatarinova, Alexander Smetanin +496 more
20210 citations Open access
Semantic Scholar
IDENTIFICATION AND RESULTS DISCLOSURE: OF RARE, PATHOGENIC COPY NUMBER VARIANTS TO ADULT RESEARCH PARTICIPANTS WITH DEVELOPMENTAL BRAIN DISORDERS
B. Finucane, K. Wain, Emily Palen, Lauren Kasparson +7 more
2019European Neuropsychopharmacology0 citations
Semantic Scholar

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