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: 5908G>A; Asp1970Asn

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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High-risk multiple myeloma predicted by circulating plasma cells and its genetic characteristics.

Frontiers In Oncology

Xia, Yuan Y; Shen, Na N; Zhang, Run R; Wu, Yujie Y; Shi, Qinglin Q; Li, Jianyong J; Chen, Lijuan L; Xu, Min M; Jin, Yuanyuan Y

Publication Date: 2023

Variant appearance in text: rs565881981

PubMed Link: 36845679

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: KMT2D: D1970N; rs565881981

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Transient commensal clonal interactions can drive tumor metastasis.

Nature Communications

Naffar-Abu Amara, Suha S; Kuiken, Hendrik J HJ; Selfors, Laura M LM; Butler, Timothy T; Leung, Marco L ML; Leung, Cheuk T CT; Kuhn, Elaine P EP; Kolarova, Teodora T; Hage, Carina C; Ganesh, Kripa K; Panayiotou, Richard R; Foster, Rosemary R; Rueda, Bo R BR; Aktipis, Athena A; Spellman, Paul P; Ince, Tan A TA; Xiu, Joanne J; Oberley, Matthew M; Gatalica, Zoran Z; Navin, Nicholas N; Mills, Gordon B GB; Bronson, Rodrick T RT; Brugge, Joan S JS

Publication Date: 2020-11-16

Variant appearance in text: KMT2D: D1970N

PubMed Link: 33199705

Variant Present in the following documents:

• 41467_2020_19584_MOESM4_ESM.xlsx, sheet 1

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Integrative molecular characterization of Chinese prostate cancer specimens.

Asian Journal Of Andrology

Lv, Shi-Dong SD; Wang, Hong-Yi HY; Yu, Xin-Pei XP; Zhai, Qi-Liang QL; Wu, Yao-Bin YB; Wei, Qiang Q; Huang, Wen-Hua WH

Publication Date: 2020

Variant appearance in text: KMT2D: D1970N

PubMed Link: 31134918

Variant Present in the following documents:

• AJA-22-162_Suppl1.pdf
• AJA-22-162.pdf

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