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Smoking + BMI in heart disease
WGS for cardiovascular outcomes
RNA-Seq in pancreatic cancer
Molecular Characterization of Hemimegalencephaly
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Selected Publications (5)
Variables (15)
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Jeong Ho Lee, M. Huynh, J. Silhavy, et al. (2012). Nature Genetics. Cited 675 times.
https://doi.org/10.1038/ng.2329
Virmid: accurate detection of somatic mutations with sample impurity inference
Sangwoo Kim, Kyowon Jeong, Kunal Bhutani, et al. (2013). Genome Biology. Cited 71 times.
https://doi.org/10.1186/gb-2013-14-8-r90
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Cristiana Pelorosso, F. Watrin, V. Conti, et al. (2019). Human molecular genetics. Cited 52 times.
https://doi.org/10.1093/hmg/ddz194
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.
S. Baek, E. Gibbs, J. Gleeson, et al. (2013). Current opinion in neurology. Cited 29 times.
https://doi.org/10.1097/WCO.0b013e32835ef373
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly
Camila A B Garcia, S. C. S. Carvalho, Xiaoxu Yang, et al. (2020). Epilepsia Open. Cited 28 times.
https://doi.org/10.1002/epi4.12377
