Publications:

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Journal Of Medical Genetics

Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A

Publication Date: 2022-02

Variant appearance in text: DICER1: 96G>A; W32*

PubMed Link: 33208384

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107385.pdf

View BVdb publication page

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Journal Of Medical Genetics

Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A

Publication Date: 2020-11-18

Variant appearance in text: DICER1: 96G>A; W32*

PubMed Link: 33208384

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107385.pdf

View BVdb publication page

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: 96G>A

PubMed Link: 26925222

Variant Present in the following documents:

• Main text
• f1000research-4-14447.pdf

View BVdb publication page