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: 9305C>T; Pro3102Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Hemasphere

Meyers, Sarah S; Alberti-Servera, Llucia L; Gielen, Olga O; Erard, Margot M; Swings, Toon T; De Bie, Jolien J; Michaux, Lucienne L; Dewaele, Barbara B; Boeckx, Nancy N; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Maertens, Johan J; Segers, Heidi H; Cools, Jan J; Demeyer, Sofie S

Publication Date: 2022-04

Variant appearance in text: KMT2D: 9305C>T; P3102L; rs970061739

PubMed Link: 35291210

Variant Present in the following documents:

• hs9-6-e700-s004.xlsx, sheet 12
• hs9-6-e700-s004.xlsx, sheet 9
• hs9-6-e700-s004.xlsx, sheet 7
• hs9-6-e700-s004.xlsx, sheet 10
• hs9-6-e700-s004.xlsx, sheet 8

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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: 9305C>T

PubMed Link: 35081690

Variant Present in the following documents:

• 2021_280342_FISHER_SUPPL.pdf

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A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.

Oncotarget

Pishvaian, Michael J MJ; Joseph Bender, R R; Matrisian, Lynn M LM; Rahib, Lola L; Hendifar, Andrew A; Hoos, William A WA; Mikhail, Sam S; Chung, Vincent V; Picozzi, Vincent V; Heartwell, Craig C; Mason, Kimberly K; Varieur, Katelyn K; Aberra, Metasebia M; Madhavan, Subha S; Petricoin, Emanuel E; Brody, Jonathan R JR

Publication Date: 2017-10-13

Variant appearance in text: KMT2D: P3102L

PubMed Link: 29137355

Variant Present in the following documents:

• oncotarget-08-83446-s002.xlsx, sheet 2

View BVdb publication page