Joyce S. Tsuji, Vanessa Pérez, Michael R. Garry, Dominik D. Alexander
The U.S. Environmental Protection Agency (EPA) is developing an integrated assessment of non-cancer and cancer risk assessment of inorganic arsenic (iAs). Cardiovascular disease (CVD) in association with iAs exposure has been examined in a number of studies and provides a basis for evaluating a refe...
Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao et al.
Abstract Charcot-Marie-Tooth Disease is a clinically and genetically heterogeneous group of hereditary neuropathies, with over 100 causative genes identified to date. Despite progress in genetic sequencing, around a quarter of patients remain unsolved. Through international collaborations, we identi...
Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao et al.
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of hereditary neuropathies. Despite progress in genetic sequencing, for around a quarter of patients the disease has lacked a genetic explanation. Here, we identified 16 recessive variants in the RhoGTPase activati...
Isabel Abrantes, Taseer Ahmad, NizamUddin Ahmed, Emre Aksoy et al.