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: 4412G>A; Cys1471Tyr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Hearing loss and brain disorders: A review of multiple pathologies.

Open Medicine (Warsaw, Poland)

Oluwole, Oluwafemi Gabriel OG; James, Kili K; Yalcouye, Abdoulaye A; Wonkam, Ambroise A

Publication Date: 2022

Variant appearance in text: KMT2D: Cys1471Tyr

PubMed Link: 34993346

Variant Present in the following documents:

• Main text
• med-2021-0402.pdf

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: KMT2D: C1471Y

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Genome Medicine

Loviglio, Maria Nicla MN; Beck, Christine R CR; White, Janson J JJ; Leleu, Marion M; Harel, Tamar T; Guex, Nicolas N; Niknejad, Anne A; Bi, Weimin W; Chen, Edward S ES; Crespo, Isaac I; Yan, Jiong J; Charng, Wu-Lin WL; Gu, Shen S; Fang, Ping P; Coban-Akdemir, Zeynep Z; Shaw, Chad A CA; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Rougemont, Jacques J; Xenarios, Ioannis I; Lupski, James R JR; Reymond, Alexandre A

Publication Date: 2016-11-01

Variant appearance in text: KMT2D: C1471Y

PubMed Link: 27799067

Variant Present in the following documents:

• 13073_2016_359_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Spinal ependymoma in a patient with Kabuki syndrome: a case report.

Bmc Medical Genetics

Roma, Davide D; Palma, Paolo P; Capolino, Rossella R; Figà-Talamanca, Lorenzo L; Diomedi-Camassei, Francesca F; Lepri, Francesca Romana FR; Digilio, Maria Cristina MC; Marras, Carlo Efisio CE; Messina, Raffaella R; Carai, Andrea A; Randi, Franco F; Mastronuzzi, Angela A

Publication Date: 2015-09-05

Variant appearance in text: KMT2D: C1471Y

PubMed Link: 26341229

Variant Present in the following documents:

• Main text
• 12881_2015_Article_228.pdf

View BVdb publication page

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Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.

Epigenomics

Vallianatos, Christina N CN; Iwase, Shigeki S

Publication Date: 2015

Variant appearance in text: KMT2D: Cys1471Tyr

PubMed Link: 26077434

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: C1471Y

PubMed Link: 24633898

Variant Present in the following documents:

• Main text
• humu0035-0841.pdf

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Diverse functions of PHD fingers of the MLL/KMT2 subfamily.

Biochimica Et Biophysica Acta

Ali, Muzaffar M; Hom, Robert A RA; Blakeslee, Weston W; Ikenouye, Larissa L; Kutateladze, Tatiana G TG

Publication Date: 2014-02

Variant appearance in text: KMT2D: C1471Y

PubMed Link: 24291127

Variant Present in the following documents:

• Main text

View BVdb publication page

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