Publications:

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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: 15019C>T; Arg5007Trp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: R5007W; rs201855029

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.

Journal Of Hepatology

Sumazin, Pavel P; Peters, Tricia L TL; Sarabia, Stephen F SF; Kim, Hyunjae R HR; Urbicain, Martin M; Hollingsworth, Emporia Faith EF; Alvarez, Karla R KR; Perez, Cintia R CR; Pozza, Alice A; Najaf Panah, Mohammad Javad MJ; Epps, Jessica L JL; Scorsone, Kathy K; Zorman, Barry B; Katzenstein, Howard H; O'Neill, Allison F AF; Meyers, Rebecka R; Tiao, Greg G; Geller, Jim J; Ranganathan, Sarangarajan S; Rangaswami, Arun A AA; Woodfield, Sarah E SE; Goss, John A JA; Vasudevan, Sanjeev A SA; Heczey, Andras A; Roy, Angshumoy A; Fisher, Kevin E KE; Alaggio, Rita R; Patel, Kalyani R KR; Finegold, Milton J MJ; López-Terrada, Dolores H DH

Publication Date: 2022-10

Variant appearance in text: KMT2D: 15019C>T; R5007W

PubMed Link: 35577029

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Thoracic Cancer

Jiang, Ning N; Zhou, Jie J; Zhang, Wenhao W; Li, Peichao P; Liu, Yu Y; Shi, Hubo H; Zhang, Chengke C; Wang, Yunshan Y; Zhou, Chengjun C; Peng, Chuanliang C; Zhang, Weiquan W; Hao, Yingtao Y; Sun, Qifeng Q; Li, Yuliang Y; Zhao, Xiaogang X

Publication Date: 2021-01

Variant appearance in text: KMT2D: R5007W; rs201855029

PubMed Link: 33200540

Variant Present in the following documents:

• TCA-12-181-s003.xlsx, sheet 1

View BVdb publication page

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Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes.

Neoplasia (New York, N.Y.)

Zhou, Yangying Y; Liu, Wei W; Xu, Zhijie Z; Zhu, Hong H; Xiao, Desheng D; Su, Weiping W; Zeng, Ruolan R; Feng, Yuhua Y; Duan, Yumei Y; Zhou, Jianhua J; Zhong, Meizuo M

Publication Date: 2018-10

Variant appearance in text: KMT2D: 15019C>T; Arg5007Trp

PubMed Link: 30227305

Variant Present in the following documents:

• mmc1.xlsx, sheet 6

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: KMT2D: 15019C>T; Arg5007Trp; rs201855029

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Genome Medicine

Li, Alexander H AH; Hanchard, Neil A NA; Furthner, Dieter D; Fernbach, Susan S; Azamian, Mahshid M; Nicosia, Annarita A; Rosenfeld, Jill J; Muzny, Donna D; D'Alessandro, Lisa C A LCA; Morris, Shaine S; Jhangiani, Shalini S; Parekh, Dhaval R DR; Franklin, Wayne J WJ; Lewin, Mark M; Towbin, Jeffrey A JA; Penny, Daniel J DJ; Fraser, Charles D CD; Martin, James F JF; Eng, Christine C; Lupski, James R JR; Gibbs, Richard A RA; Boerwinkle, Eric E; Belmont, John W JW

Publication Date: 2017-10-31

Variant appearance in text: KMT2D: 15019C>T

PubMed Link: 29089047

Variant Present in the following documents:

• 13073_2017_482_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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