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: 13588G>A; Asp4530Asn

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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Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal

Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-07-04

Variant appearance in text: KMT2D: D4530N; rs768143170

PubMed Link: 35788129

Variant Present in the following documents:

• 41408_2022_699_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Thyroid : Official Journal Of The American Thyroid Association

Larrivée-Vanier, Stéphanie S; Jean-Louis, Martineau M; Magne, Fabien F; Bui, Helen H; Rouleau, Guy A GA; Spiegelman, Dan D; Samuels, Mark E ME; Kibar, Zoha Z; Van Vliet, Guy G; Deladoëy, Johnny J

Publication Date: 2022-05

Variant appearance in text: KMT2D: Asp4530Asn; rs768143170

PubMed Link: 35272499

Variant Present in the following documents:

• Main text
• thy.2021.0597.pdf

View BVdb publication page

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Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine

Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS

Publication Date: 2021-05

Variant appearance in text: KMT2D: D4530N; rs768143170

PubMed Link: 33811746

Variant Present in the following documents:

• CAM4-10-3045-s001.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: KMT2D: D4530N

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 7

View BVdb publication page

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Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Journal Of Hematology & Oncology

Juskevicius, Darius D; Jucker, David D; Klingbiel, Dirk D; Mamot, Christoph C; Dirnhofer, Stephan S; Tzankov, Alexandar A

Publication Date: 2017-03-17

Variant appearance in text: KMT2D: 13588G>A; Asp4530Asn; rs768143170

PubMed Link: 28302137

Variant Present in the following documents:

• 13045_2017_438_MOESM1_ESM.xlsx, sheet 3
• 13045_2017_438_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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