American Journal of Human Genetics

American Journal of Human Genetics

ISSNs: 0002-9297

Additional searchable ISSN (electronic): 1537-6605

Cell Press, United States

Scopus rating (2023): CiteScore 14.7 SJR 4.516 SNIP 2.381

Journal

Journal Metrics

Research Output

  1. 2025
  2. Published

    A unified framework for cell-type-specific eQTL prioritization by integrating bulk and scRNA-seq data

    Yu, X., Hu, X., Wan, X., Zhang, Z., Wan, X., Cai, M. & Yu, T. & 1 others, Xiao, J., 6 Feb 2025, In: American Journal of Human Genetics. 112, 2, p. 332-352

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

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  3. Published

    Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease

    Fang, L., Xue, H., Lin, Z. & Pan, W., 6 Feb 2025, In: The American Journal of Human Genetics. 112, 2, p. 291-300

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

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  4. 2024
  5. Published

    Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics

    Hu, X., Cai, M., Xiao, J., Wan, X., Wang, Z., Zhao, H. & Yang, C., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1717-1735

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 9
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  6. Published

    Inferring causal direction between two traits using R2 with application to transcriptome-wide association studies

    Liao, H., Xue, H. & Pan, W., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1782-1795

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 1
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  7. Published

    KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies

    Yang, Y., Wang, Q., Wang, C., Buxbaum, J. & Ionita-Laza, I., 11 Jul 2024, In: American Journal of Human Genetics. 111, 7, p. 1448-1461 14 p.

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

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  8. 2023
  9. Robust multivariable Mendelian randomization based on constrained maximum likelihood

    Lin, Z., Xue, H. & Pan, W., 6 Apr 2023, In: American Journal of Human Genetics. 110, 4, p. 592-605

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 27
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  10. 2022
  11. Published

    KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design

    Yang, Y., Wang, C., Liu, L., Buxbaum, J., He, Z. & Ionita-Laza, I., 6 Oct 2022, In: American Journal of Human Genetics. 109, 10, p. 1761-1776 16 p.

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 2
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  12. Leveraging the local genetic structure for trans-ancestry association mapping

    Xiao, J., Cai, M., Yu, X., Hu, X., Chen, G., Wan, X. & Yang, C., 7 Jul 2022, In: American Journal of Human Genetics. 109, 7, p. 1317-1337

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 10
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  13. 2021
  14. Published

    Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

    105 authors, including, Richard, E. M. & Li, J., 7 Oct 2021, In: American Journal of Human Genetics. 108, 10, p. 2006-2016

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 15
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  15. Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects

    Xue, H., Shen, X. & Pan, W., 1 Jul 2021, In: American Journal of Human Genetics. 108, 7, p. 1251-1269

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 202
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  16. A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits

    Cai, M., Xiao, J., Zhang, S., Wan, X., Zhao, H., Chen, G. & Yang, C., 1 Apr 2021, In: American Journal of Human Genetics. 108, 4, p. 632-655

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 63
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  17. 2020
  18. Published

    Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

    Duncan, A. R., Vitobello, A., Collins, S. C., Vancollie, V. E., Lelliott, C. J., Rodan, L. & Shi, J. & 23 others, Seman, A. R., Agolini, E., Novelli, A., Prontera, P., Guillen Sacoto, M. J., Santiago-Sim, T., Trimouille, A., Goizet, C., Nizon, M., Bruel, A.-L., Philippe, C., Grant, P. E., Wojcik, M. H., Stoler, J., Genetti, C. A., van Dooren, M. F., Maas, S. M., Alders, M., Faivre, L., Sorlin, A., Yoon, G., Yalcin, B. & Agrawal, P. B., 3 Dec 2020, In: American Journal of Human Genetics. 107, 6, p. 1170-1177

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 17
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  19. 2016
  20. Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma

    Cheng, C., Zhou, Y., Li, H., Xiong, T., Li, S., Bi, Y. & Kong, P. & 48 others, Wang, F., Cui, H., Li, Y., Fang, X., Yan, T., Li, Y., Wang, J., Yang, B., Zhang, L., Jia, Z., Song, B., Hu, X., Yang, J., Qiu, H., Zhang, G., Liu, J., Xu, E., Shi, R., Zhang, Y., Liu, H., He, C., Zhao, Z., Qian, Y., Rong, R., Han, Z., Zhang, Y., Luo, W., Wang, J., Peng, S., Yang, X., Li, X., Li, L., Fang, H., Liu, X., Ma, L., Chen, Y., Guo, S., Chen, X., Xi, Y., Li, G., Liang, J., Yang, X., Guo, J., Jia, J., Li, Q., Cheng, X., Zhan, Q. & Cui, Y., 4 Feb 2016, In: American Journal of Human Genetics. 98, 2, p. 256-274

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 112
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  21. 2015
  22. Leveraging multi-ethnic evidence for mapping complex traits in minority populations: An empirical Bayes approach

    Coram, M. A., Candille, S. I., Duan, Q., Chan, K. H. K., Li, Y., Kooperberg, C. & Reiner, A. P. & 1 others, Tang, H., 7 May 2015, In: American Journal of Human Genetics. 96, 5, p. 740-752

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 19
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  23. 2013
  24. Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians

    Yang, W., Tang, H., Zhang, Y., Tang, X., Zhang, J., Sun, L. & Yang, J. & 70 others, Cui, Y., Zhang, L., Hirankarn, N., Cheng, H., Pan, H.-F., Gao, J., Lee, T. L., Sheng, Y., Lau, C. S., Li, Y., Chan, T. M., Yin, X., Ying, D., Lu, Q., Leung, A. M. H., Zuo, X., Chen, X., Tong, K. L., Zhou, F., Diao, Q., Tse, N. K. C., Xie, H., Mok, C. C., Hao, F., Wong, S. N., Shi, B., Lee, K. W., Hui, Y., Ho, M. H. K., Liang, B., Lee, P. P. W., Cui, H., Guo, Q., Chung, B.H.-Y., Pu, X., Liu, Q., Zhang, X., Zhang, C., Chong, C. Y., Fang, H., Wong, R. W. S., Sun, Y., Mok, M. Y., Li, X.-P., Avihingsanon, Y., Zhai, Z., Rianthavorn, P., Deekajorndej, T., Suphapeetiporn, K., Gao, F., Shotelersuk, V., Kang, X., Ying, S. K. Y., Zhang, L., Wong, W. H. S., Zhu, D., Fung, S. K. S., Zeng, F., Lai, W. M., Wong, C.-M., Ng, I. O. L., Garcia-Barceló, M.-M., Cherny, S. S., Shen, N., Tam, P.K.-H., Sham, P. C., Ye, D.-Q., Yang, S., Zhang, X. & Lau, Y. L., 10 Jan 2013, In: American Journal of Human Genetics. 92, 1, p. 41-51

    Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

    Scopus citations: 183
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