Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs4968839

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs4968839

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.

Human Genomics

Jin, Yu Y; Wang, Jingbo J; Bachtiar, Maulana M; Chong, Samuel S SS; Lee, Caroline G L CGL

Publication Date: 2018-09-15

Variant appearance in text: rs4968839

PubMed Link: 30219098

Variant Present in the following documents:

• Main text
• 40246_2018_Article_175.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs4968839

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4968839

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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New insights into the genetics of glioblastoma multiforme by familial exome sequencing.

Oncotarget

Backes, Christina C; Harz, Christian C; Fischer, Ulrike U; Schmitt, Jana J; Ludwig, Nicole N; Petersen, Britt-Sabina BS; Mueller, Sabine C SC; Kim, Yoo-Jin YJ; Wolf, Nadine M NM; Katus, Hugo A HA; Meder, Benjamin B; Furtwängler, Rhoikos R; Franke, Andre A; Bohle, Rainer R; Henn, Wolfram W; Graf, Norbert N; Keller, Andreas A; Meese, Eckart E

Publication Date: 2015-03-20

Variant appearance in text: rs4968839

PubMed Link: 25537509

Variant Present in the following documents:

• Main text
• oncotarget-06-5918.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs4968839

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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