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: 6111C>G; Asp2037Glu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: KMT2D: 6111C>G; D2037E

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM12_ESM.xlsx, sheet 1

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Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.

Theranostics

Tang, Jing J; Sui, Cheng-Jun CJ; Wang, Dong-Fang DF; Lu, Xin-Yuan XY; Luo, Gui-Juan GJ; Zhao, Qing Q; Lian, Qiu-Yu QY; Jeong, Seogsong S; Lin, Xi-Meng XM; Zhu, Yan-Jing YJ; Zheng, Bo B; Wu, Rui R; Wang, Qing Q; Liu, Xiao-Long XL; Liu, Jing-Feng JF; Xia, Qiang Q; Wu, Gang G; Gu, Jin J; Wang, Hong-Yang HY; Chen, Lei L

Publication Date: 2020

Variant appearance in text: KMT2D: D2037E

PubMed Link: 32373219

Variant Present in the following documents:

• thnov10p5384s2.xlsx, sheet 4

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[Rosai-Dorfman disease: a clinicopathologic analysis and whole exome sequencing in 23 cases].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Fu, W J WJ; Du, J J; Lu, J J; Wang, L Z LZ; Yang, J M JM; He, M X MX; Hu, X X XX

Publication Date: 2019-08-14

Variant appearance in text: KMT2D: 6111C>G; D2037E

PubMed Link: 31495132

Variant Present in the following documents:

• Main text
• cjh-40-08-656.pdf

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