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: rs224589

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs224589

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs224589

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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The Associations between Metalloestrogens, GSTP1, and SLC11A2 Polymorphism and the Risk of Endometrial Cancer.

Nutrients

Michalczyk, Kaja K; Kapczuk, Patrycja P; Witczak, Grzegorz G; Bosiacki, Mateusz M; Kurzawski, Mateusz M; Chlubek, Dariusz D; Cymbaluk-Płoska, Aneta A

Publication Date: 2022-07-27

Variant appearance in text: rs224589

PubMed Link: 35893933

Variant Present in the following documents:

• Main text
• nutrients-14-03079.pdf

View BVdb publication page

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The Role of Gene Variants in the Iron Metabolism of Anemic Adolescent Girls.

Cureus

Varikuti, Sudarshan Reddy SR; Parasannavar, Devaraj J DJ; Rajkumar, Hemalatha H; Bhukya, Tulja T; Satyanarayana, Uppala U; Kumar, Manoj M

Publication Date: 2021-12

Variant appearance in text: rs224589

PubMed Link: 34877231

Variant Present in the following documents:

• Main text
• cureus-0013-00000020128.pdf

View BVdb publication page

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Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.

Biomedicines

Sánchez-Monteagudo, Ana A; Ripollés, Edna E; Berenguer, Marina M; Espinós, Carmen C

Publication Date: 2021-08-28

Variant appearance in text: rs224589

PubMed Link: 34572285

Variant Present in the following documents:

• Main text
• biomedicines-09-01100.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: SLC11A2: 309+44A>C; rs224589

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs224589

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Metal Exposure and SNCA rs356219 Polymorphism Associated With Parkinson Disease and Parkinsonism.

Frontiers In Neurology

Lucchini, Roberto G RG; Guazzetti, Stefano S; Renzetti, Stefano S; Broberg, Karin K; Caci, Margherita M; Covolo, Loredana L; Crippa, Patrizia P; Gelatti, Umberto U; Hashim, Dana D; Oppini, Manuela M; Pepe, Fulvio F; Pilotto, Andrea A; Passeri, Chiara C; Placidi, Donatella D; Rizzetti, Maira Cristina MC; Turla, Marinella M; Wahlberg, Karin K; Padovani, Alessandro A

Publication Date: 2020

Variant appearance in text: rs224589

PubMed Link: 33362685

Variant Present in the following documents:

• Main text
• fneur-11-556337.pdf

View BVdb publication page

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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: rs224589

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: SLC11A2: 309+44A>C; rs224589

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.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: rs224589

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: rs224589

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs224589

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

View BVdb publication page

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Candidate genes involved in beneficial or adverse responses to commonly eaten brassica vegetables in a New Zealand Crohn's disease cohort.

Nutrients

Laing, Bobbi B; Han, Dug Yeo DY; Ferguson, Lynnette R LR

Publication Date: 2013-12-12

Variant appearance in text: rs224589

PubMed Link: 24352087

Variant Present in the following documents:

• Main text
• nutrients-05-05046.pdf

View BVdb publication page

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Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.

Frontiers In Genetics

Pasquale, Louis R LR; Loomis, Stephanie J SJ; Aschard, Hugues H; Kang, Jae H JH; Cornelis, Marilyn C MC; Qi, Lu L; Kraft, Peter P; Hu, Frank B FB

Publication Date: 2013

Variant appearance in text: rs224589

PubMed Link: 23386860

Variant Present in the following documents:

• Main text
• fgene-04-00007.pdf

View BVdb publication page

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An association between environmental factors and the IVS4+44C>A polymorphism of the DMT1 gene in age-related macular degeneration.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Wysokinski, Daniel D; Zaras, Malgorzata M; Dorecka, Mariola M; Waszczyk, Maja M; Szaflik, Jerzy J; Blasiak, Janusz J; Szaflik, Jacek P JP

Publication Date: 2012-07

Variant appearance in text: rs224589

PubMed Link: 22371024

Variant Present in the following documents:

• Main text
• 417_2012_Article_1966.pdf

View BVdb publication page

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Lack of association between autism and four heavy metal regulatory genes.

Neurotoxicology

Owens, Sarah E SE; Summar, Marshall L ML; Ryckman, Kelli K KK; Haines, Jonathan L JL; Reiss, Sara S; Summar, Samantha R SR; Aschner, Michael M

Publication Date: 2011-12

Variant appearance in text: NRAMP2: 309+44A>C; rs224589

PubMed Link: 21798283

Variant Present in the following documents:

• Main text

View BVdb publication page

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