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: rs2230597

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: EPHA2: P329P

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_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_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: EPHA2: P329P

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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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: EPHA2: 987C>T; P329P; rs2230597

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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: rs2230597

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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A novel virtual barcode strategy for accurate panel-wide variant calling in circulating tumor DNA.

Bmc Bioinformatics

Wu, Leilei L; Deng, Qinfang Q; Xu, Ze Z; Zhou, Songwen S; Li, Chao C; Li, Yi-Xue YX

Publication Date: 2020-04-03

Variant appearance in text: N/A

PubMed Link: 32245364

Variant Present in the following documents:

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: EPHA2: 987C>T; Pro329=; rs2230597

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: EPHA2: P329P; rs2230597

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Transcriptional and metabolic rewiring of colorectal cancer cells expressing the oncogenic KRASG13D mutation.

British Journal Of Cancer

Charitou, Theodosia T; Srihari, Sriganesh S; Lynn, Miriam A MA; Jarboui, Mohamed-Ali MA; Fasterius, Erik E; Moldovan, Max M; Shirasawa, Senji S; Tsunoda, Toshiyuki T; Ueffing, Marius M; Xie, Jianling J; Xin, Jin J; Wang, Xuemin X; Proud, Christopher G CG; Boldt, Karsten K; Al-Khalili Szigyarto, Cristina C; Kolch, Walter W; Lynn, David J DJ

Publication Date: 2019-07

Variant appearance in text: EPHA2: 987C>T; rs2230597

PubMed Link: 31133691

Variant Present in the following documents:

• 41416_2019_477_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Ebiomedicine

Visioli, Alberto A; Giani, Fabrizio F; Trivieri, Nadia N; Pracella, Riccardo R; Miccinilli, Elide E; Cariglia, Maria Grazia MG; Palumbo, Orazio O; Arleo, Andrea A; Dezi, Fabio F; Copetti, Massimiliano M; Cajola, Laura L; Restelli, Silvia S; Papa, Valerio V; Sciuto, Antonio A; Latiano, Tiziana Pia TP; Carella, Massimo M; Amadori, Dino D; Gallerani, Giulia G; Ricci, Riccardo R; Alfieri, Sergio S; Pesole, Graziano G; Vescovi, Angelo L AL; Binda, Elena E

Publication Date: 2019-06

Variant appearance in text: EPHA2: 987C>T; P329P

PubMed Link: 31056474

Variant Present in the following documents:

• mmc1.xls, sheet 1
• mmc3.xlsx, sheet 1

View BVdb publication page

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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: rs2230597

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_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: EPHA2: 987C>T; rs2230597

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: EPHA2: 987C>T; P329P; rs2230597

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: EPHA2: 987C>T; P329P; rs2230597

PubMed Link: 29267365

Variant Present in the following documents:

• Main text
• pone.0189881.pdf

View BVdb publication page

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Associations of high altitude polycythemia with polymorphisms in EPHA2 and AGT in Chinese Han and Tibetan populations.

Oncotarget

Liu, Lijun L; Zhang, Yao Y; Zhang, Zhiying Z; Zhao, Yiduo Y; Fan, Xiaowei X; Ma, Lifeng L; Zhang, Yuan Y; He, Haijin H; Kang, Longli L

Publication Date: 2017-08-08

Variant appearance in text: rs2230597

PubMed Link: 28881807

Variant Present in the following documents:

• Main text
• oncotarget-08-53234.pdf

View BVdb publication page

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TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.

Oncotarget

Gray, Phillip N PN; Vuong, Huy H; Tsai, Pei P; Lu, Hsaio-Mei HM; Mu, Wenbo W; Hsuan, Vickie V; Hoo, Jayne J; Shah, Swati S; Uyeda, Lisa L; Fox, Susanne S; Patel, Harshil H; Janicek, Mike M; Brown, Sandra S; Dobrea, Lavinia L; Wagman, Lawrence L; Plimack, Elizabeth E; Mehra, Ranee R; Golemis, Erica A EA; Bilusic, Marijo M; Zibelman, Matthew M; Elliott, Aaron A

Publication Date: 2016-10-18

Variant appearance in text: rs2230597

PubMed Link: 27626691

Variant Present in the following documents:

• Main text
• oncotarget-07-68206.pdf

View BVdb publication page

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Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Chinese Medical Journal

Min, Han-Yi HY; Qiao, Peng-Peng PP; , ; Yan, Zhi-Hui ZH; Jiang, Hui-Feng HF; Zhu, Ya-Ping YP; Du, Hui-Qian HQ; Li, Qin Q; Wang, Jia-Wei JW; Zhang, Jie J; Sun, Jun J; Yi, Xin X; Yang, Ling L

Publication Date: 2016-04-05

Variant appearance in text: EPHA2: 987C>T; rs2230597

PubMed Link: 26996484

Variant Present in the following documents:

• Main text
• CMJ-129-860.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: EPHA2: P329P; rs2230597

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

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: EPHA2: 987C>T; P329P; rs2230597

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 4

View BVdb publication page

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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: EPHA2: P329P; rs2230597

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: EPHA2: P329P; rs2230597

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Molecular Vision

Kaul, Haiba H; Riazuddin, S Amer SA; Shahid, Mariam M; Kousar, Samra S; Butt, Nadeem H NH; Zafar, Ahmad U AU; Khan, Shaheen N SN; Husnain, Tayyab T; Akram, Javed J; Hejtmancik, J Fielding JF; Riazuddin, Sheikh S

Publication Date: 2010-03-24

Variant appearance in text: rs2230597

PubMed Link: 20361013

Variant Present in the following documents:

• Main text

View BVdb publication page

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EPHA2 is associated with age-related cortical cataract in mice and humans.

Plos Genetics

Jun, Gyungah G; Guo, Hong H; Klein, Barbara E K BE; Klein, Ronald R; Wang, Jie Jin JJ; Mitchell, Paul P; Miao, Hui H; Lee, Kristine E KE; Joshi, Tripti T; Buck, Matthias M; Chugha, Preeti P; Bardenstein, David D; Klein, Alison P AP; Bailey-Wilson, Joan E JE; Gong, Xiaohua X; Spector, Tim D TD; Andrew, Toby T; Hammond, Christopher J CJ; Elston, Robert C RC; Iyengar, Sudha K SK; Wang, Bingcheng B

Publication Date: 2009-07

Variant appearance in text: EPHA2: Pro329Pro; rs2230597

PubMed Link: 19649315

Variant Present in the following documents:

• Main text
• pgen.1000584.pdf

View BVdb publication page

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