Concepedia

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Krinio Giannikou, Kathryn D. Lasseter, Joannes M. Grevelink, Magdalena E. Tyburczy, Kira A. Dies, Zachary Zhu, Lana Hamieh, Bruce M. Wollison, Aaron R. Thorner, Stephen J. Ruoss,

Genetics in Medicine · 2019 · 60 citations · 15 references

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15

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Hope Northrup, Darcy A. Krueger, Hope Northrup et al. · Pediatric Neurology · 2013 · 1.5K citations · Full text

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Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Darcy A. Krueger, Hope Northrup, Hope Northrup et al. · Pediatric Neurology · 2013 · 860 citations · Full text

, , +11

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 753 citations · Full text

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Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wüster, Sarah Lindsay et al. · Nature Genetics · 2015 · 729 citations · Full text

, , +12

Detectable clonal mosaicism and its relationship to aging and cancer

Kevin B. Jacobs, Meredith Yeager, Weiyin Zhou et al. · Nature Genetics · 2012 · 594 citations · Full text

, , +12