Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 1463C>T; Pro488Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM3_ESM.xlsx, sheet 1
• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Programmed cell death ligand 1 expression in aggressive pediatric non-Hodgkin lymphomas: frequency, genetic mechanisms, and clinical significance.

Haematologica

Fisher, Kevin E KE; Ferguson, Lizmery S LS; Coffey, Amy M AM; Merritt, Brian Y BY; Curry, Jonathan L JL; Marcogliese, Andrea N AN; Major, Angela M AM; Kamdar, Kala Y KY; Lopez-Terrada, Dolores H DH; Curry, Choladda V CV

Publication Date: 2022-08-01

Variant appearance in text: KMT2D: 1463C>T

PubMed Link: 35081690

Variant Present in the following documents:

• 2021_280342_FISHER_SUPPL.pdf

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ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene

Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I

Publication Date: 2021-04

Variant appearance in text: KMT2D: 1463C>T; P488L

PubMed Link: 33742126

Variant Present in the following documents:

• EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1

View BVdb publication page

ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene

Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I

Publication Date: 2021-04

Variant appearance in text: KMT2D: 1463C>T; P488L

PubMed Link: 33742126

Variant Present in the following documents:

• EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1

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: KMT2D: 1463C>T

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page