Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases


Journal article


Danny E. Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M. Martin, Evan E. Eichler, Fuki M. Hisama, Junko Oshima
Journal of Medical Genetics, vol. 59, {BMJ}, 2022 May, pp. 1087--1094


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APA   Click to copy
Miller, D. E., Lee, L., Galey, M., Kandhaya-Pillai, R., Tischkowitz, M., Amalnath, D., … Oshima, J. (2022). Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases. Journal of Medical Genetics, 59, 1087–1094. https://doi.org/10.1136/jmedgenet-2022-108485


Chicago/Turabian   Click to copy
Miller, Danny E., Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, et al. “Targeted Long-Read Sequencing Identifies Missing Pathogenic Variants in Unsolved Werner Syndrome Cases.” Journal of Medical Genetics 59 (May 2022): 1087–1094.


MLA   Click to copy
Miller, Danny E., et al. “Targeted Long-Read Sequencing Identifies Missing Pathogenic Variants in Unsolved Werner Syndrome Cases.” Journal of Medical Genetics, vol. 59, {BMJ}, May 2022, pp. 1087–94, doi:10.1136/jmedgenet-2022-108485.


BibTeX   Click to copy

@article{miller2022a,
  title = {Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases},
  year = {2022},
  month = may,
  journal = {Journal of Medical Genetics},
  pages = {1087--1094},
  publisher = {{BMJ}},
  volume = {59},
  doi = {10.1136/jmedgenet-2022-108485},
  author = {Miller, Danny E. and Lee, Lin and Galey, Miranda and Kandhaya-Pillai, Renuka and Tischkowitz, Marc and Amalnath, Deepak and Vithlani, Avadh and Yokote, Koutaro and Kato, Hisaya and Maezawa, Yoshiro and Takada-Watanabe, Aki and Takemoto, Minoru and Martin, George M. and Eichler, Evan E. and Hisama, Fuki M. and Oshima, Junko},
  month_numeric = {5}
}


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