Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs3733242

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs3733242

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Selecting Genetic Variants and Interactions Associated with Amyotrophic Lateral Sclerosis: A Group LASSO Approach.

Journal Of Personalized Medicine

Feronato, Sofia Galvão SG; Silva, Maria Luiza Matos MLM; Izbicki, Rafael R; Farias, Ticiana D J TDJ; Shigunov, Patrícia P; Dallagiovanna, Bruno B; Passetti, Fabio F; Dos Santos, Hellen Geremias HG

Publication Date: 2022-08-19

Variant appearance in text: rs3733242

PubMed Link: 36013279

Variant Present in the following documents:

• Main text
• jpm-12-01330.pdf

View BVdb publication page

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What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis?

Journal Of Personalized Medicine

Vasilopoulou, Christina C; Morris, Andrew P AP; Giannakopoulos, George G; Duguez, Stephanie S; Duddy, William W

Publication Date: 2020-11-26

Variant appearance in text: rs3733242

PubMed Link: 33256133

Variant Present in the following documents:

• Main text
• jpm-10-00247.pdf

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: rs3733242

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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Data on a genome-wide association study of type 2 diabetes in a Maya population.

Data In Brief

Totomoch-Serra, Armando A; Domínguez-Cruz, Miriam Givisay MG; Muñoz, María de Lourdes ML; García-Escalante, María Guadalupe MG; Burgueño, Juan J; Díaz-Badillo, Álvaro Á; Valadez-González, Nina N; Escalante, Doris Pinto DP

Publication Date: 2020-02

Variant appearance in text: rs3733242

PubMed Link: 31872004

Variant Present in the following documents:

• Main text

View BVdb publication page

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Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications

Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J

Publication Date: 2018-03-02

Variant appearance in text: rs3733242

PubMed Link: 29500430

Variant Present in the following documents:

• 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1

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: rs3733242

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: rs3733242

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: rs3733242

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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Identification of interacting genes in genome-wide association studies using a model-based two-stage approach.

Annals Of Human Genetics

Zhang, Zhaogong Z; Niu, Adan A; Sha, Qiuying Q

Publication Date: 2010-09-01

Variant appearance in text: rs3733242

PubMed Link: 20636464

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis.

Bmc Medical Genetics

Sha, Qiuying Q; Zhang, Zhaogong Z; Schymick, Jennifer C JC; Traynor, Bryan J BJ; Zhang, Shuanglin S

Publication Date: 2009-09-09

Variant appearance in text: rs3733242

PubMed Link: 19740415

Variant Present in the following documents:

• Main text
• 1471-2350-10-86.pdf

View BVdb publication page

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