Publications:

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: NF1: 4103T>G; Leu1368*

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

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Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Clinical Genetics

Seo, Go Hun GH; Kim, Taeho T; Choi, In Hee IH; Park, Jung-Young JY; Lee, Jungsul J; Kim, Sehwan S; Won, Dhong-Gun DG; Oh, Arum A; Lee, Yena Y; Choi, Jeongmin J; Lee, Hajeong H; Kang, Hee Gyung HG; Cho, Hee Yeon HY; Cho, Min Hyun MH; Kim, Yoon Jeon YJ; Yoon, Young Hee YH; Eun, Baik-Lin BL; Desnick, Robert J RJ; Keum, Changwon C; Lee, Beom Hee BH

Publication Date: 2020-12

Variant appearance in text: NF1: 4103T>G; Leu1368Ter

PubMed Link: 32901917

Variant Present in the following documents:

• CGE-98-562-s003.xlsx, sheet 2

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The First Case of an Infant with Familial A20 Haploinsufficiency in Korea.

Journal Of Korean Medical Science

Kim, Hye Young HY; Song, Ji Yeon JY; Kim, Woo Il WI; Ko, Hyun Chang HC; Park, Su Eun SE; Jang, Ja Hyun JH; Kim, Seong Heon SH

Publication Date: 2020-08-03

Variant appearance in text: NF1: 4103T>G; Leu1368*

PubMed Link: 32743991

Variant Present in the following documents:

• Main text
• jkms-35-e252.pdf

View BVdb publication page