Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: 3038A>C; Lys1013Thr; rs200837944

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Nature Communications

Haraldsdottir, Sigurdis S; Rafnar, Thorunn T; Frankel, Wendy L WL; Einarsdottir, Sylvia S; Sigurdsson, Asgeir A; Hampel, Heather H; Snaebjornsson, Petur P; Masson, Gisli G; Weng, Daniel D; Arngrimsson, Reynir R; Kehr, Birte B; Yilmaz, Ahmet A; Haraldsson, Stefan S; Sulem, Patrick P; Stefansson, Tryggvi T; Shields, Peter G PG; Sigurdsson, Fridbjorn F; Bekaii-Saab, Tanios T; Moller, Pall H PH; Steinarsdottir, Margret M; Alexiusdottir, Kristin K; Hitchins, Megan M; Pritchard, Colin C CC; de la Chapelle, Albert A; Jonasson, Jon G JG; Goldberg, Richard M RM; Stefansson, Kari K

Publication Date: 2017-05-03

Variant appearance in text: MSH6: Lys1013Thr

PubMed Link: 28466842

Variant Present in the following documents:

• Main text
• ncomms14755.pdf

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BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology.

Acta Neuropathologica

Shankar, Ganesh M GM; Lelic, Nina N; Gill, Corey M CM; Thorner, Aaron R AR; Van Hummelen, Paul P; Wisoff, Jeffrey H JH; Loeffler, Jay S JS; Brastianos, Priscilla K PK; Shin, John H JH; Borges, Lawrence F LF; Butler, William E WE; Zagzag, David D; Brody, Rachel I RI; Duhaime, Ann-Christine AC; Taylor, Michael D MD; Hawkins, Cynthia E CE; Louis, David N DN; Cahill, Daniel P DP; Curry, William T WT; Meyerson, Matthew M

Publication Date: 2016-01

Variant appearance in text: MSH6: 3038A>C; K1013T

PubMed Link: 26487540

Variant Present in the following documents:

• 401_2015_1492_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page