Publications:

---

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: rs5092

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: APOA4: T29T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

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: APOA4: T29T; rs5092

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

---

Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci.

Frontiers In Genetics

Jurado-Camacho, Pedro A PA; Cid-Soto, Miguel A MA; Barajas-Olmos, Francisco F; García-Ortíz, Humberto H; Baca-Peynado, Paulina P; Martínez-Hernández, Angélica A; Centeno-Cruz, Federico F; Contreras-Cubas, Cecilia C; González-Villalpando, María Elena ME; Saldaña-Álvarez, Yolanda Y; Salas-Martinez, Guadalupe G; Mendoza-Caamal, Elvia C EC; González-Villalpando, Clicerio C; Córdova, Emilio J EJ; Orozco, Lorena L

Publication Date: 2022

Variant appearance in text: rs5092

PubMed Link: 35669185

Variant Present in the following documents:

• Main text
• fgene-13-807381.pdf

View BVdb publication page

---

Augmenting and directing long-range CRISPR-mediated activation in human cells.

Nature Methods

Tak, Y Esther YE; Horng, Joy E JE; Perry, Nicholas T NT; Schultz, Hayley T HT; Iyer, Sowmya S; Yao, Qiuming Q; Zou, Luli S LS; Aryee, Martin J MJ; Pinello, Luca L; Joung, J Keith JK

Publication Date: 2021-09

Variant appearance in text: rs5092

PubMed Link: 34354266

Variant Present in the following documents:

• Main text
• nihms-1719705.pdf

View BVdb publication page

---

Augmenting and directing long-range CRISPR-mediated activation in human cells.

Nature Methods

Tak, Y Esther YE; Horng, Joy E JE; Perry, Nicholas T NT; Schultz, Hayley T HT; Iyer, Sowmya S; Yao, Qiuming Q; Zou, Luli S LS; Aryee, Martin J MJ; Pinello, Luca L; Joung, J Keith JK

Publication Date: 2021-09

Variant appearance in text: rs5092

PubMed Link: 34354266

Variant Present in the following documents:

• Main text
• nihms-1719705.pdf

View BVdb publication page

---

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: APOA4: T29T; rs5092

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: APOA4: T29T; rs5092

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: APOA4: T29T; rs5092

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Influence of genetic polymorphisms in homocysteine and lipid metabolism systems on antidepressant drug response.

Bmc Psychiatry

Yuan, Baoyu B; Sun, Xiaoyan X; Xu, Zhi Z; Pu, Mengjia M; Yuan, Yonggui Y; Zhang, Zhijun Z

Publication Date: 2020-08-14

Variant appearance in text: rs5092

PubMed Link: 32795354

Variant Present in the following documents:

• Main text
• 12888_2020_Article_2798.pdf

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: APOA4: T29T; rs5092

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

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: rs5092

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: APOA4: T29T

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

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: APOA4: T29T; rs5092

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs5092

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications

Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA

Publication Date: 2018-09

Variant appearance in text: rs5092

PubMed Link: 30202817

Variant Present in the following documents:

• HEP4-2-1021-s001.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: rs5092

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: APOA4: T29T; rs5092

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

---

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: rs5092

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

View BVdb publication page

---

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: APOA4: T29T

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: APOA4: T29T; rs5092

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: APOA4: T29T

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page

---

IRAK signalling in cancer.

British Journal Of Cancer

Rhyasen, G W GW; Starczynowski, D T DT

Publication Date: 2015-01-20

Variant appearance in text: rs5092

PubMed Link: 25290089

Variant Present in the following documents:

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: APOA4: T29T; rs5092

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

---

Effects of variations in the APOA1/C3/A4/A5 gene cluster on different parameters of postprandial lipid metabolism in healthy young men.

Journal Of Lipid Research

Delgado-Lista, Javier J; Perez-Jimenez, Francisco F; Ruano, Juan J; Perez-Martinez, Pablo P; Fuentes, Francisco F; Criado-Garcia, Juan J; Parnell, Laurence D LD; Garcia-Rios, Antonio A; Ordovas, Jose M JM; Lopez-Miranda, Jose J

Publication Date: 2010-01

Variant appearance in text: APOA4: T29T; rs5092

PubMed Link: 19592705

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the genetics of lipid-lowering drugs and diet network study.

Pharmacogenetics And Genomics

Liu, Yongjun Y; Ordovas, Jose M JM; Gao, Guimin G; Province, Michael M; Straka, Robert J RJ; Tsai, Michael Y MY; Lai, Chao-Qiang CQ; Zhang, Kui K; Borecki, Ingrid I; Hixson, James E JE; Allison, David B DB; Arnett, Donna K DK

Publication Date: 2009-02

Variant appearance in text: rs5092

PubMed Link: 19057464

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat.

Nutrition & Metabolism

Seip, Richard L RL; Volek, Jeff S JS; Windemuth, Andreas A; Kocherla, Mohan M; Fernandez, Maria Luz ML; Kraemer, William J WJ; Ruaño, Gualberto G

Publication Date: 2008-02-06

Variant appearance in text: APOA4: T29T; rs5092

PubMed Link: 18254975

Variant Present in the following documents:

• Main text
• 1743-7075-5-4.pdf

View BVdb publication page

---

Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment.

Bmc Cardiovascular Disorders

Liljedahl, Ulrika U; Lind, Lars L; Kurland, Lisa L; Berglund, Lars L; Kahan, Thomas T; Syvänen, Ann-Christine AC

Publication Date: 2004-09-28

Variant appearance in text: rs5092

PubMed Link: 15453913

Variant Present in the following documents:

• Main text
• 1471-2261-4-16.pdf

View BVdb publication page

---