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population

  • Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population
    Li Zhang, Zixin Qin, Teng Huang, Benjamin Tam, Yongsen Ruan, Maoni Guo, Xiaobing Wu, Jiaheng Li, Bojin Zhao, Jia Sheng Chian, Xiaoyu Wang, Lei Wang, San Ming Wang
    Journal of Medical Genetics Jul 2022, 59 (7) 652-661; DOI: 10.1136/jmedgenet-2021-107886
  • Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study
    Line Kenborg, Cristina Boschini, Pernille E Bidstrup, Susanne O Dalton, Karoline Doser, Thomas T Nielsen, Anja Krøyer, Christoffer Johansen, Kirsten Frederiksen, Sven Asger Sørensen, Hanne Hove, John R Østergaard, John J Mulvihill, Jeanette F Winther
    Journal of Medical Genetics Mar 2022, 59 (3) 237-242; DOI: 10.1136/jmedgenet-2020-107201
  • Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
    Mahmoud R. Fassad, Mitali P. Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward, Mellisa Dixon, Andrew V. Rogers, Sarah Ollosson, Claire Jackson, Patricia Goggin, Robert A. Hirst, Andrew Rutman, James Thompson, Lucy Jenkins, Paul Aurora, Eduardo Moya, Philip Chetcuti, Chris O'Callaghan, Deborah J Morris-Rosendahl, Christopher M. Watson, Robert Wilson, Siobhan Carr, Woolf Walker, Andreia Pitno, Susana Lopes, Heba Morsy, Walaa Shoman, Luisa Pereira, Carolina Constant, Michael R. Loebinger, Eddie M.K. Chung, Priti Kenia, Nisreen Rumman, Nader Fasseeh, Jane S. Lucas, Claire Hogg, Hannah M. Mitchison
    Journal of Medical Genetics May 2020, 57 (5) 322-330; DOI: 10.1136/jmedgenet-2019-106501