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: 7829T>C; Leu2610Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Mutations in Epigenetic Regulation Genes in Gastric Cancer.

Cancers

Nemtsova, Marina V MV; Kalinkin, Alexey I AI; Kuznetsova, Ekaterina B EB; Bure, Irina V IV; Alekseeva, Ekaterina A EA; Bykov, Igor I II; Khorobrykh, Tatiana V TV; Mikhaylenko, Dmitry S DS; Tanas, Alexander S AS; Strelnikov, Vladimir V VV

Publication Date: 2021-09-13

Variant appearance in text: KMT2D: L2610P; rs200998047

PubMed Link: 34572812

Variant Present in the following documents:

• Main text
• cancers-13-04586.pdf

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Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Breast Cancer Research : Bcr

Priedigkeit, Nolan N; Ding, Kai K; Horne, William W; Kolls, Jay K JK; Du, Tian T; Lucas, Peter C PC; Blohmer, Jens-Uwe JU; Denkert, Carsten C; Machleidt, Anna A; Ingold-Heppner, Barbara B; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2021-01-06

Variant appearance in text: KMT2D: L2610P; rs200998047

PubMed Link: 33407744

Variant Present in the following documents:

• 13058_2020_1379_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Human Molecular Genetics

Cocciadiferro, Dario D; Augello, Bartolomeo B; De Nittis, Pasquelena P; Zhang, Jiyuan J; Mandriani, Barbara B; Malerba, Natascia N; Squeo, Gabriella M GM; Romano, Alessandro A; Piccinni, Barbara B; Verri, Tiziano T; Micale, Lucia L; Pasqualucci, Laura L; Merla, Giuseppe G

Publication Date: 2018-11-01

Variant appearance in text: KMT2D: 7829T>C; Leu2610Pro

PubMed Link: 30107592

Variant Present in the following documents:

• Main text

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A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Plos Computational Biology

Sun, James X JX; He, Yuting Y; Sanford, Eric E; Montesion, Meagan M; Frampton, Garrett M GM; Vignot, Stéphane S; Soria, Jean-Charles JC; Ross, Jeffrey S JS; Miller, Vincent A VA; Stephens, Phil J PJ; Lipson, Doron D; Yelensky, Roman R

Publication Date: 2018-02

Variant appearance in text: rs200998047

PubMed Link: 29415044

Variant Present in the following documents:

• pcbi.1005965.s007.pdf

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Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

Genes, Chromosomes & Cancer

Juhlin, C Christofer CC; Stenman, Adam A; Haglund, Felix F; Clark, Victoria E VE; Brown, Taylor C TC; Baranoski, Jacob J; Bilguvar, Kaya K; Goh, Gerald G; Welander, Jenny J; Svahn, Fredrika F; Rubinstein, Jill C JC; Caramuta, Stefano S; Yasuno, Katsuhito K; Günel, Murat M; Bäckdahl, Martin M; Gimm, Oliver O; Söderkvist, Peter P; Prasad, Manju L ML; Korah, Reju R; Lifton, Richard P RP; Carling, Tobias T

Publication Date: 2015-09

Variant appearance in text: KMT2D: L2610P

PubMed Link: 26032282

Variant Present in the following documents:

• Main text
• GCC-54-542.pdf

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Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Human Mutation

Micale, Lucia L; Augello, Bartolomeo B; Maffeo, Claudia C; Selicorni, Angelo A; Zucchetti, Federica F; Fusco, Carmela C; De Nittis, Pasquelena P; Pellico, Maria Teresa MT; Mandriani, Barbara B; Fischetto, Rita R; Boccone, Loredana L; Silengo, Margherita M; Biamino, Elisa E; Perria, Chiara C; Sotgiu, Stefano S; Serra, Gigliola G; Lapi, Elisabetta E; Neri, Marcella M; Ferlini, Alessandra A; Cavaliere, Maria Luigia ML; Chiurazzi, Pietro P; Monica, Matteo Della MD; Scarano, Gioacchino G; Faravelli, Francesca F; Ferrari, Paola P; Mazzanti, Laura L; Pilotta, Alba A; Patricelli, Maria Grazia MG; Bedeschi, Maria Francesca MF; Benedicenti, Francesco F; Prontera, Paolo P; Toschi, Benedetta B; Salviati, Leonardo L; Melis, Daniela D; Di Battista, Eliana E; Vancini, Alessandra A; Garavelli, Livia L; Zelante, Leopoldo L; Merla, Giuseppe G

Publication Date: 2014-07

Variant appearance in text: KMT2D: 7829T>C; Leu2610Pro

PubMed Link: 24633898

Variant Present in the following documents:

• humu0035-0841-SD2.pdf

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