Jacques S. Beckmann - Selected Publications#

[1] Beckmann, J. S., & Soller, M. (1983). Restriction fragment length polymorphisms in genetic improvement: methodologies, mapping and costs. Theoretical and Applied Genetics, 67(1), 35–43. (Total citations 197).

[2] Soller, M., & Beckmann, J. S. (1983). Genetic polymorphism in varietal identification and genetic improvement. Theoretical and Applied Genetics, 67(1), 25–33. (Total citations 259).

[3] Richard, I., O. Broux, V. Allamand, F. Fougerousse, N. Chiannilkuchaï, N. Bourg, L. Brenguier, C. Devaud, P. Pasturaud, C. Roudaut, D. Hillaire, M.-R. Passos-Bueno, M. Zatz, J.A. Tischfield, M. Fardeau, C.E. Jackson, D. Cohen and J.S. Beckmann (1995). A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb girdle muscular dystrophy type 2A. Cell 81: 27-40. (Total citations 818).

[4] Antonarakis S.E. & Beckmann, J. S. (2006). Mendelian disorders deserve more attention. Nature Reviews Genetics volume 7, pages 277-282. (Total citations 155).

[5] Beckmann J. S. & Spencer M. (2008). Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord. 18(12):913-21. (Total citations 106).

[6] Speliotes, E. K., Willer, C. J., Berndt, S. I., Monda, K. L., Thorleifsson, G., Jackson, A. U., Allen, H. L., Lindgren, C. M., Luan, J., Mägi, R., Randall, J. C., Vedantam, S., Winkler, T. W., Qi, L., Workalemahu, T., Heid, I., Steinthorsdottir, V., Stringham, H., Weedon, M. N., ... Loos, R. J. F. (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics, 42(11), 937–948. (Total citations 2193).

[7] Walters, R. G., Jacquemont, S., Valsesia, A., De Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., El-Sayed Moustafa, J. S., Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., ... Beckmann, J. S. (2010). A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature, 463(7281), 671–675. (Total citations 372).

[8] Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., Thorleifsson, G., Belfiore, M., Bouquillon, S., Campion, D., De Leeuw, N., De Vries, B. B. A., Esko, T., Fernandez, B. A., Fernández-Aranda, F., ... Froguel, P. (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature, 478(7367), 97–102. (Total citations 329).

[9] Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., Kamiya, A., Beckmann, J. S., & Katsanis, N. (2012). KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature, 485(7398), 363–367. (Total citations 298).

[10] Beckmann J. S. & Lew D. (2016). Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities. Genome Med. 19;8(1):134. (Total citations 125).