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: 10072A>G; Ser3358Gly

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Bennett, Jennifer A JA; Ordulu, Zehra Z; Pinto, Andre A; Wanjari, Pankhuri P; Antonescu, Cristina R CR; Ritterhouse, Lauren L LL; Oliva, Esther E

Publication Date: 2022-04

Variant appearance in text: KMT2D: 10072A>G; Ser3358Gly

PubMed Link: 34131293

Variant Present in the following documents:

• NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx, sheet 1

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Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer

Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E

Publication Date: 2018-06

Variant appearance in text: KMT2D: S3358G

PubMed Link: 29872146

Variant Present in the following documents:

• 41416_2018_89_MOESM2_ESM.xls, sheet 1

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: KMT2D: 10072A>G; S3358G

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page