Publications:

Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

F1000Research

Brenneman, Mark M; Field, Amanda A; Yang, Jiandong J; Williams, Gretchen G; Doros, Leslie L; Rossi, Christopher C; Schultz, Kris Ann KA; Rosenberg, Avi A; Ivanovich, Jennifer J; Turner, Joyce J; Gordish-Dressman, Heather H; Stewart, Douglas D; Yu, Weiying W; Harris, Anne A; Schoettler, Peter P; Goodfellow, Paul P; Dehner, Louis L; Messinger, Yoav Y; Hill, D Ashley DA

Publication Date: 2015

Variant appearance in text: DICER1: 1304C>T

PubMed Link: 26925222

Variant Present in the following documents:

• Main text
• f1000research-4-14447.pdf

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Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Journal Of Medical Genetics

Klein, Steven S; Lee, Hane H; Ghahremani, Shahnaz S; Kempert, Pamela P; Ischander, Mariam M; Teitell, Michael A MA; Nelson, Stanley F SF; Martinez-Agosto, Julian A JA

Publication Date: 2014-05

Variant appearance in text: DICER1: 1304C>T

PubMed Link: 24676357

Variant Present in the following documents:

• Main text

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