Publications:

NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Belhadj, Sami S; Khurram, Aliya A; Bandlamudi, Chaitanya C; Palou-Márquez, Guillermo G; Ravichandran, Vignesh V; Steinsnyder, Zoe Z; Wildman, Temima T; Catchings, Amanda A; Kemel, Yelena Y; Mukherjee, Semanti S; Fesko, Benjamin B; Arora, Kanika K; Mehine, Miika M; Dandiker, Sita S; Izhar, Aalin A; Petrini, John J; Domchek, Susan S; Nathanson, Katherine L KL; Brower, Jamie J; Couch, Fergus F; Stadler, Zsofia Z; Robson, Mark M; Walsh, Michael M; Vijai, Joseph J; Berger, Michael M; Supek, Fran F; Karam, Rachid R; Topka, Sabine S; Offit, Kenneth K

Publication Date: 2022-11-08

Variant appearance in text: KMT2C: K822Rfs*6

PubMed Link: 36346689

Variant Present in the following documents:

• ccr-22-1703_supplementary_tables_s1-s11_suppts1-ts11.xlsx, sheet 5

View BVdb publication page

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: KMT2C: 2464_2465insG

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Nature Communications

Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N

Publication Date: 2019-10-17

Variant appearance in text: KMT2C: 2464_2465insG

PubMed Link: 31624251

Variant Present in the following documents:

• 41467_2019_12746_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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: MLL3: 2464_2465insG

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 20

View BVdb publication page

Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: MLL3: 2464_2465insG

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page