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: rs853789

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes.

Plos One

Chen, Guanjie G; Shriner, Daniel D; Zhang, Jianhua J; Zhou, Jie J; Adikaram, Poorni P; Doumatey, Ayo P AP; Bentley, Amy R AR; Adeyemo, Adebowale A; Rotimi, Charles N CN

Publication Date: 2022

Variant appearance in text: ABCB11: 2344-17T>C; rs853789

PubMed Link: 35657990

Variant Present in the following documents:

• pone.0269378.s010.xlsx, sheet 1

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: ABCB11: 2344-17T>C; rs853789

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: rs853789

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ABCB11: 2344-17T>C; rs853789

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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: rs853789

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_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: ABCB11: 2344-17T>C; rs853789

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits.

Computational And Mathematical Methods In Medicine

Wu, Baolin B; Pankow, James S JS

Publication Date: 2018

Variant appearance in text: rs853789

PubMed Link: 29743933

Variant Present in the following documents:

• 2564531.f1.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: rs853789

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.

Scientific Reports

Dröge, Carola C; Schaal, Heiner H; Engelmann, Guido G; Wenning, Daniel D; Häussinger, Dieter D; Kubitz, Ralf R

Publication Date: 2016-04-26

Variant appearance in text: rs853789

PubMed Link: 27114171

Variant Present in the following documents:

• srep24827-s1.pdf

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: rs853789

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: rs853789

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Transferability and fine-mapping of glucose and insulin quantitative trait loci across populations: CARe, the Candidate Gene Association Resource.

Diabetologia

Liu, C-T CT; Ng, M C Y MC; Rybin, D D; Adeyemo, A A; Bielinski, S J SJ; Boerwinkle, E E; Borecki, I I; Cade, B B; Chen, Y D I YD; Djousse, L L; Fornage, M M; Goodarzi, M O MO; Grant, S F A SF; Guo, X X; Harris, T T; Kabagambe, E E; Kizer, J R JR; Liu, Y Y; Lunetta, K L KL; Mukamal, K K; Nettleton, J A JA; Pankow, J S JS; Patel, S R SR; Ramos, E E; Rasmussen-Torvik, L L; Rich, S S SS; Rotimi, C N CN; Sarpong, D D; Shriner, D D; Sims, M M; Zmuda, J M JM; Redline, S S; Kao, W H WH; Siscovick, D D; Florez, J C JC; Rotter, J I JI; Dupuis, J J; Wilson, J G JG; Bowden, D W DW; Meigs, J B JB

Publication Date: 2012-11

Variant appearance in text: rs853789

PubMed Link: 22893027

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.

Diabetes

Bouatia-Naji, Nabila N; Bonnefond, Amélie A; Baerenwald, Devin A DA; Marchand, Marion M; Bugliani, Marco M; Marchetti, Piero P; Pattou, François F; Printz, Richard L RL; Flemming, Brian P BP; Umunakwe, Obi C OC; Conley, Nicholas L NL; Vaxillaire, Martine M; Lantieri, Olivier O; Balkau, Beverley B; Marre, Michel M; Lévy-Marchal, Claire C; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Meyre, David D; Dina, Christian C; Oeser, James K JK; Froguel, Philippe P; O'Brien, Richard M RM

Publication Date: 2010-10

Variant appearance in text: rs853789

PubMed Link: 20622168

Variant Present in the following documents:

• Main text
• zdb2662.pdf

View BVdb publication page

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Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

The Journal Of Clinical Investigation

Chen, Wei-Min WM; Erdos, Michael R MR; Jackson, Anne U AU; Saxena, Richa R; Sanna, Serena S; Silver, Kristi D KD; Timpson, Nicholas J NJ; Hansen, Torben T; Orrù, Marco M; Grazia Piras, Maria M; Bonnycastle, Lori L LL; Willer, Cristen J CJ; Lyssenko, Valeriya V; Shen, Haiqing H; Kuusisto, Johanna J; Ebrahim, Shah S; Sestu, Natascia N; Duren, William L WL; Spada, Maria Cristina MC; Stringham, Heather M HM; Scott, Laura J LJ; Olla, Nazario N; Swift, Amy J AJ; Najjar, Samer S; Mitchell, Braxton D BD; Lawlor, Debbie A DA; Smith, George Davey GD; Ben-Shlomo, Yoav Y; Andersen, Gitte G; Borch-Johnsen, Knut K; Jørgensen, Torben T; Saramies, Jouko J; Valle, Timo T TT; Buchanan, Thomas A TA; Shuldiner, Alan R AR; Lakatta, Edward E; Bergman, Richard N RN; Uda, Manuela M; Tuomilehto, Jaakko J; Pedersen, Oluf O; Cao, Antonio A; Groop, Leif L; Mohlke, Karen L KL; Laakso, Markku M; Schlessinger, David D; Collins, Francis S FS; Altshuler, David D; Abecasis, Gonçalo R GR; Boehnke, Michael M; Scuteri, Angelo A; Watanabe, Richard M RM

Publication Date: 2008-07

Variant appearance in text: rs853789

PubMed Link: 18521185

Variant Present in the following documents:

• Main text

View BVdb publication page

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