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: 7478G>A; Gly2493Glu

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: G2493E; rs833819

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications

Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V

Publication Date: 2022-09-07

Variant appearance in text: KMT2D: 7478G>A; G2493E

PubMed Link: 36071033

Variant Present in the following documents:

• 41467_2022_32828_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances

Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM

Publication Date: 2022-11-08

Variant appearance in text: KMT2D: G2493E

PubMed Link: 35363872

Variant Present in the following documents:

• BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
• BLOODA_ADV-2021-005284-mmc2.pdf

View BVdb publication page

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Baseline SUVmax is related to tumor cell proliferation and patient outcome in follicular lymphoma.

Haematologica

Rossi, Cédric C; Tosolini, Marie M; Gravelle, Pauline P; Pericart, Sarah S; Kanoun, Salim S; Evrard, Solene S; Gilhodes, Julia J; Franchini, Don-Marc DM; Amara, Nadia N; Syrykh, Charlotte C; Bories, Pierre P; Oberic, Lucie L; Ysebaert, Loïc L; Martin, Laurent L; Ramla, Selim S; Robert, Philippine P; Tabouret-Viaud, Claire C; Casasnovas, René-Olivier RO; Fournié, Jean-Jacques JJ; Bezombes, Christine C; Laurent, Camille C

Publication Date: 2022-01-01

Variant appearance in text: KMT2D: 7478G>A; Gly2493Glu

PubMed Link: 33327711

Variant Present in the following documents:

• 2020_263194_ROSSI_TAB3_SUPPL.xls, sheet 1

View BVdb publication page

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: KMT2D: 7478G>A; G2493E

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 1
• Table_2.xls, sheet 2

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: 7478G>A; Gly2493Glu; rs833819

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

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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: G2493E

PubMed Link: 29137355

Variant Present in the following documents:

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

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: KMT2D: 7478G>A; Gly2493Glu

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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