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: 402dupT; Asp135Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Nature Communications

Schwartz, Jason R JR; Ma, Jing J; Kamens, Jennifer J; Westover, Tamara T; Walsh, Michael P MP; Brady, Samuel W SW; Robert Michael, J J; Chen, Xiaolong X; Montefiori, Lindsey L; Song, Guangchun G; Wu, Gang G; Wu, Huiyun H; Branstetter, Cristyn C; Hiltenbrand, Ryan R; Walsh, Michael F MF; Nichols, Kim E KE; Maciaszek, Jamie L JL; Liu, Yanling Y; Kumar, Priyadarshini P; Easton, John J; Newman, Scott S; Rubnitz, Jeffrey E JE; Mullighan, Charles G CG; Pounds, Stanley S; Zhang, Jinghui J; Gruber, Tanja T; Ma, Xiaotu X; Klco, Jeffery M JM

Publication Date: 2021-02-12

Variant appearance in text: MSH6: D135fs

PubMed Link: 33579957

Variant Present in the following documents:

• 41467_2021_21255_MOESM12_ESM.xlsx, sheet 1

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: MSH6: 396_397insT

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 19

View BVdb publication page