Scholarship

My publications

First-author papers are marked.

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1. 01

   Rare coding variants in CHRNB3 associate with reduced daily cigarette smoking across ancestries

   Rajagopal, V. M., Ziyatdinov, A., Joseph, T., Ayer, A., Ahmed, M., Mbatchou, J., Zou, Y., Averitt, A. J., Banerjee, N., Cantor, M., et al. Nat Commun 17, 1654 (2026). · DOI

2. 02

   Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals

   Kosmicki, J. A., Ganel, L., Watanabe, K., Joseph, T., Gaynor, S. M., Kessler, M. D., Backman, J. D., Mbatchou, J., Ziyatdinov, A., Blair, D., et al. medRxiv (2026). · DOI

3. 03

   Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies

   Joseph, T. A., Mbatchou, J., Ghosh, A., Marcketta, A., Gillies, C. E., Tang, J., Nakka, P., Zhang, X., Kosmicki, J. A., Sidore, C., et al. Nat Genet 57, 3193-3200 (2025). · DOI

4. 04

   Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies

   Gillies, C. E., Mbatchou, J., Habegger, L., Kessler, M. D., Bao, S., Balasubramanian, S., Delaneau, O., Kosmicki, J. A., Willer, C. J., Kang, H. M., et al. Genet Epidemiol 49, e70023 (2025). · DOI

5. 05

   JASPER: Fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression

   Mbatchou, J. & McPeek, M. S. The American Journal of Human Genetics 111, 1750-1769 (2024). · DOI

6. 06

   Genetic risk factors for COVID-19 and influenza are largely distinct

   Kosmicki, J. A., Marcketta, A., Sharma, D., Di Gioia, S. A., Batista, S., Yang, X.-M., Tzoneva, G., Martinez, H., Sidore, C., Kessler, M. D., et al. Nature Genetics (2024).

7. 07

   Joint testing of rare variant burden scores using non-negative least squares

   Ziyatdinov, A., Mbatchou, J., Marcketta, A., Backman, J., Gaynor, S., Zou, Y., Joseph, T., Geraghty, B., Herman, J., Watanabe, K., et al. The American Journal of Human Genetics 111, 2139-2149 (2024).

8. 08

   BRASS: Permutation methods for binary traits in genetic association studies with structured samples

   Mbatchou, J., Abney, M. & McPeek, M. S. PLoS Genetics 19, e1011020 (2023). · DOI

9. 09

   Genotyping, sequencing and analysis of 140,000 adults from Mexico City

   Ziyatdinov, A., Torres, J., Alegre-D'iaz, J., Backman, J., Mbatchou, J., Turner, M., Gaynor, S. M., Joseph, T., Zou, Y., Liu, D., et al. Nature 622, 784–793 (2023).

10. 10

    Rare coding variants in CHRNB2 reduce the likelihood of smoking

    Rajagopal, V. M., Watanabe, K., Mbatchou, J., Ayer, A., Quon, P., Sharma, D., Kessler, M. D., Praveen, K., Gelfman, S., Parikshak, N., et al. Nature Genetics 1-11 (2023).

11. 11

    Common and rare variant associations with clonal haematopoiesis phenotypes

    Kessler, M. D., Damask, A., O’Keeffe, S., Banerjee, N., Li, D., Watanabe, K., Marketta, A., Van Meter, M., Semrau, S., Horowitz, J., et al. Nature 612, 301-309 (2022).

12. 12

    Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

    Horowitz, J. E., Kosmicki, J. A., Damask, A., Sharma, D., Roberts, G. H. L., Justice, A. E., Banerjee, N., Coignet, M. V., Yadav, A., Leader, J. B., et al. Nat Genet 54, 382-392 (2022).

13. 13

    Germline Mutations in CIDEB and Protection against Liver Disease

    Verweij, N., Haas, M. E., Nielsen, J. B., Sosina, O. A., Kim, M., Akbari, P., De, T., Hindy, G., Bovijn, J., Persaud, T., et al. New England Journal of Medicine 387, 332-344 (2022).

14. 14

    Computationally efficient whole-genome regression for quantitative and binary traits

    Mbatchou, J., Barnard, L., Backman, J., Marcketta, A., Kosmicki, J. A., Ziyatdinov, A., Benner, C., O'Dushlaine, C., Barber, M., Boutkov, B., et al. Nat Genet 53, 1097-1103 (2021). · DOI

15. 15

    A catalog of associations between rare coding variants and COVID-19 outcomes

    Kosmicki, J. A., Horowitz, J. E., Banerjee, N., Lanche, R., Marcketta, A., Maxwell, E., Bai, X., Sun, D., Backman, J. D., Sharma, D., et al. medRxiv (2021).

16. 16

    Exome sequencing and analysis of 454,787 UK Biobank participants

    Backman, J. D., Li, A. H., Marcketta, A., Sun, D., Mbatchou, J., Kessler, M. D., Benner, C., Liu, D., Locke, A. E., Balasubramanian, S., et al. Nature 599, 628-634 (2021).

17. 17

    Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

    Kosmicki, J. A., Horowitz, J. E., Banerjee, N., Lanche, R., Marcketta, A., Maxwell, E., Bai, X., Sun, D., Backman, J. D., Sharma, D., et al. Am J Hum Genet 108, 1350-1355 (2021).

18. 18

    Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

    Akbari, P., Gilani, A., Sosina, O., Kosmicki, J. A., Khrimian, L., Fang, Y. Y., Persaud, T., Garcia, V., Sun, D., Li, A., et al. Science 373 (6550) (2021).

19. 19

    Retrospective Association Analysis of Binary Traits: Overcoming Some Limitations of the Additive Polygenic Model

    Jiang, D., Mbatchou, J. & McPeek, M. S. Hum Hered 80, 187-95 (2015).

20. 20

    New insights into relationships of lichen-forming Dothideomycetes

    Nelsen, M. P., Lücking, R., Mbatchou, J. S., Andrew, C. J., Spielmann, A. A. & Lumbsch, H. T. Fungal Diversity 51, 155-162 (2011).

21. 21

    Novel Copolymers of 4-Fluorostyrene. 8. Some Ring-Trisubstituted 2-Phenyl-1, 1-dicyanoethylenes

    Kharas, G. B., Hanawa, E., Hill, B. L., Flynn, K. T., Husain, H., Mbatchou, J., Paik, W., Peters, A. L., Miguel, Y. S. & Pacilli, M. Journal of Macromolecular Science, Part A 48, 327-331 (2011).

22. 22

    Heiomasia, a new genus in the lichen-forming family Graphidaceae (Ascomycota: Lecanoromycetes: Ostropales) with disjunct distribution in Southeastern North America and Southeast Asia

    Nelsen, M. P., Lücking, R., Plata, E. R. & Mbatchou, J. S. The Bryologist 113, 742-751 (2010).

23. 23

    A class-wide phylogenetic assessment of Dothideomycetes

    Schoch, C. L., Crous, P. W., Groenewald, J. Z., Boehm, E. W., Burgess, T. I., de Gruyter, J., de Hoog, G. S., Dixon, L. J., Grube, M., Gueidan, C., et al. Stud Mycol 64, 1-15S10 (2009).

24. 24

    Unravelling the phylogenetic relationships of lichenised fungi in Dothideomyceta

    Nelsen, M. P., Lucking, R., Grube, M., Mbatchou, J. S., Muggia, L., Plata, E. R. & Lumbsch, H. T. Stud Mycol 64, 135-144S4 (2009).