Publications:

---

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: rs2270836

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

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: rs2270836

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2270836

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs2270836

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

A Birth Cohort Study on the Genetic Modification of the Association of Prenatal Methylmercury With Child Cognitive Development.

American Journal Of Epidemiology

Julvez, Jordi J; Davey Smith, George G; Ring, Susan S; Grandjean, Philippe P

Publication Date: 2019-10-01

Variant appearance in text: rs2270836

PubMed Link: 31241132

Variant Present in the following documents:

• Main text
• kwz156.pdf

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs2270836

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

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: rs2270836

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Genetic Aspects of Susceptibility to Mercury Toxicity: An Overview.

International Journal Of Environmental Research And Public Health

Andreoli, Virginia V; Sprovieri, Francesca F

Publication Date: 2017-01-18

Variant appearance in text: rs2270836

PubMed Link: 28106810

Variant Present in the following documents:

• Main text
• ijerph-14-00093.pdf

View BVdb publication page

---

Genetic polymorphisms are associated with hair, blood, and urine mercury levels in the American Dental Association (ADA) study participants.

Environmental Research

Parajuli, Rajendra Prasad RP; Goodrich, Jaclyn M JM; Chou, Hwai-Nan HN; Gruninger, Stephen E SE; Dolinoy, Dana C DC; Franzblau, Alfred A; Basu, Niladri N

Publication Date: 2016-08

Variant appearance in text: rs2270836

PubMed Link: 26673400

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2270836

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Genetic variation in metallothionein and metal-regulatory transcription factor 1 in relation to urinary cadmium, copper, and zinc.

Toxicology And Applied Pharmacology

Adams, Scott V SV; Barrick, Brian B; Christopher, Emily P EP; Shafer, Martin M MM; Makar, Karen W KW; Song, Xiaoling X; Lampe, Johanna W JW; Vilchis, Hugo H; Ulery, April A; Newcomb, Polly A PA

Publication Date: 2015-12-15

Variant appearance in text: rs2270836

PubMed Link: 26529669

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic polymorphisms affecting susceptibility to mercury neurotoxicity in children: summary findings from the Casa Pia Children's Amalgam clinical trial.

Neurotoxicology

Woods, James S JS; Heyer, Nicholas J NJ; Russo, Joan E JE; Martin, Michael D MD; Farin, Federico M FM

Publication Date: 2014-09

Variant appearance in text: rs2270836

PubMed Link: 25109824

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Modification of neurobehavioral effects of mercury by genetic polymorphisms of metallothionein in children.

Neurotoxicology And Teratology

Woods, James S JS; Heyer, Nicholas J NJ; Russo, Joan E JE; Martin, Michael D MD; Pillai, Pradeep B PB; Farin, Federico M FM

Publication Date: 2013

Variant appearance in text: rs2270836

PubMed Link: 23827881

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Metallothionein genes: no association with Crohn's disease in a New Zealand population.

Journal Of Negative Results In Biomedicine

Morgan, Angharad R AR; Fraser, Alan G AG; Ferguson, Lynnette R LR

Publication Date: 2012-01-28

Variant appearance in text: rs2270836

PubMed Link: 22284420

Variant Present in the following documents:

• Main text
• 1477-5751-11-8.pdf

View BVdb publication page

---

An investigation of modifying effects of single nucleotide polymorphisms in metabolism-related genes on the relationship between peripheral nerve function and mercury levels in urine and hair.

The Science Of The Total Environment

Wang, Yi Y; Goodrich, Jaclyn M JM; Werner, Robert R; Gillespie, Brenda B; Basu, Niladri N; Franzblau, Alfred A

Publication Date: 2012-02-15

Variant appearance in text: rs2270836

PubMed Link: 22236634

Variant Present in the following documents:

• Main text

View BVdb publication page

---