Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs2043112

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Impact of cognition-related single nucleotide polymorphisms on brain imaging phenotype in Parkinson's disease.

Neural Regeneration Research

Shen, Ting T; Pu, Jia-Li JL; Jiang, Ya-Si YS; Yue, Yu-Mei YM; He, Ting-Ting TT; Qu, Bo-Yi BY; Zhao, Shuai S; Yan, Ya-Ping YP; Lai, Hsin-Yi HY; Zhang, Bao-Rong BR

Publication Date: 2023-05

Variant appearance in text: rs2043112

PubMed Link: 36255006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the mTOR-PI3K-Akt pathway, energy balance-related exposures and colorectal cancer risk in the Netherlands Cohort Study.

Biodata Mining

Simons, Colinda C J M CCJM; Schouten, Leo J LJ; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Stoll, Monika M; Van Steen, Kristel K; van den Brandt, Piet A PA; Weijenberg, Matty P MP

Publication Date: 2022-01-10

Variant appearance in text: rs2043112

PubMed Link: 35012583

Variant Present in the following documents:

• Main text
• 13040_2021_Article_286.pdf

View BVdb publication page

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Polymorphisms in the mTOR-PI3K-Akt pathway, energy balance-related exposures and colorectal cancer risk in the Netherlands Cohort Study.

Biodata Mining

Simons, Colinda C J M CCJM; Schouten, Leo J LJ; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Stoll, Monika M; Van Steen, Kristel K; van den Brandt, Piet A PA; Weijenberg, Matty P MP

Publication Date: 2022-01-10

Variant appearance in text: rs2043112

PubMed Link: 35012583

Variant Present in the following documents:

• Main text
• 13040_2021_Article_286.pdf

View BVdb publication page

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Single nucleotide polymorphisms in key aging pathways, and phenotypic markers of frailty are associated with increased odds of hospital admission with COVID-19.

The Journal Of Infection

Scutt, Dr Greg DG; Overall, Dr Andrew DA

Publication Date: 2021-05

Variant appearance in text: rs2043112

PubMed Link: 33581239

Variant Present in the following documents:

• Main text
• main.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: rs2043112

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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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports

Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2019-09-23

Variant appearance in text: rs2043112

PubMed Link: 31548566

Variant Present in the following documents:

• 41598_2019_49611_MOESM1_ESM.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2043112

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Are mTOR and Endoplasmic Reticulum Stress Pathway Genes Associated with Oral and Bone Diseases?

Caries Research

Bezamat, Mariana M; Deeley, Kathleen K; Khaliq, Shahryar S; Letra, Ariadne A; Scariot, Rafaela R; Silva, Renato M RM; Weber, Megan L ML; Bussaneli, Diego G DG; Trevilatto, Paula C PC; Almarza, Alejandro J AJ; Ouyang, Hongjiao H; Vieira, Alexandre R AR

Publication Date: 2019

Variant appearance in text: rs2043112

PubMed Link: 30205378

Variant Present in the following documents:

• Main text

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: rs2043112

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: rs2043112

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

Genomics Data

John, Sumi Elsa SE; Thareja, Gaurav G; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O

Publication Date: 2015-03

Variant appearance in text: rs2043112

PubMed Link: 26484159

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Bmc Genomics

Thareja, Gaurav G; John, Sumi Elsa SE; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O

Publication Date: 2015-02-18

Variant appearance in text: rs2043112

PubMed Link: 25765185

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1233.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: rs2043112

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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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Plos One

Torella, Annalaura A; Fanin, Marina M; Mutarelli, Margherita M; Peterle, Enrico E; Del Vecchio Blanco, Francesca F; Rispoli, Rossella R; Savarese, Marco M; Garofalo, Arcomaria A; Piluso, Giulio G; Morandi, Lucia L; Ricci, Giulia G; Siciliano, Gabriele G; Angelini, Corrado C; Nigro, Vincenzo V

Publication Date: 2013

Variant appearance in text: rs2043112

PubMed Link: 23667635

Variant Present in the following documents:

• pone.0063536.s006.xlsx, sheet 1

View BVdb publication page

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