Publications:

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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: CASQ2: T66A; rs4074536

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: CASQ2: 196A>G; Thr66Ala

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

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: CASQ2: T66A; rs4074536

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

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: CASQ2: 196A>G; Thr66Ala

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: CASQ2: 196A>G; Thr66Ala; rs4074536

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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In vivo identification and validation of novel potential predictors for human cardiovascular diseases.

Plos One

Hammouda, Omar T OT; Wu, Meng Yue MY; Kaul, Verena V; Gierten, Jakob J; Thumberger, Thomas T; Wittbrodt, Joachim J

Publication Date: 2021

Variant appearance in text: rs4074536

PubMed Link: 34919578

Variant Present in the following documents:

• Main text
• pone.0261572.pdf

View BVdb publication page

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In vivo identification and validation of novel potential predictors for human cardiovascular diseases.

Plos One

Hammouda, Omar T OT; Wu, Meng Yue MY; Kaul, Verena V; Gierten, Jakob J; Thumberger, Thomas T; Wittbrodt, Joachim J

Publication Date: 2021

Variant appearance in text: rs4074536

PubMed Link: 34919578

Variant Present in the following documents:

• Main text
• pone.0261572.pdf

View BVdb publication page

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Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases.

Frontiers In Cell And Developmental Biology

Li, Sen S; Jia, Zhaoqi Z; Zhang, Zhang Z; Li, Yuxin Y; Yan, Meihui M; Yu, Tingting T

Publication Date: 2021

Variant appearance in text: rs4074536

PubMed Link: 34912794

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Genome-wide association study identifies 18 novel loci associated with left atrial volume and function.

European Heart Journal

Ahlberg, Gustav G; Andreasen, Laura L; Ghouse, Jonas J; Bertelsen, Litten L; Bundgaard, Henning H; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS

Publication Date: 2021-11-21

Variant appearance in text: rs4074536

PubMed Link: 34338756

Variant Present in the following documents:

• Main text
• ehab466.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: CASQ2: 196A>G; T66A; rs4074536

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: CASQ2: 196A>G; Thr66Ala; rs4074536

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.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: CASQ2: T66A; rs4074536

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs4074536

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: CASQ2: 196A>G; T66A; rs4074536

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Association of Variants in PLD1, 3p24.1, and 10q11.21 Regions With Hirschsprung's Disease in Han Chinese Population.

Frontiers In Genetics

Niu, Wei-Bo WB; Bai, Mei-Rong MR; Song, Huan-Lei HL; Lu, Yan-Jiao YJ; Wu, Wen-Jie WJ; Gong, Yi-Ming YM; Yu, Xian-Xian XX; Wei, Zhi-Liang ZL; Yu, Wen-Wen WW; Gu, Bei-Lin BL; Cai, Wei W; Chu, Xun X

Publication Date: 2020

Variant appearance in text: rs4074536

PubMed Link: 32765588

Variant Present in the following documents:

• Main text
• fgene-11-00738.pdf

View BVdb publication page

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Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry.

Circulation. Genomic And Precision Medicine

Jimmy Juang, Jyh-Ming JM; Liu, Yen-Bin YB; Julius Chen, Ching-Yu CY; Yu, Qi-You QY; Chattopadhyay, Amrita A; Lin, Lian-Yu LY; Chen, Wen-Jone WJ; Yu, Chih-Chien CC; Huang, Hui-Chun HC; Ho, Li-Ting LT; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Lin, Ting-Tse TT; Liao, Min-Tsun MT; Chen, Jien-Jiun JJ; Sherri Yeh, Shih-Fan SF; Chuang, Jing-Yuan JY; Yang, Dun-Hui DH; Lin, Jiunn-Lee JL; Lu, Tzu-Pin TP; Chuang, Eric Y EY; Ackerman, Michael J MJ

Publication Date: 2020-08

Variant appearance in text: rs4074536

PubMed Link: 32490690

Variant Present in the following documents:

• hcg-13-e002797-s001.pdf

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: rs4074536

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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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: CASQ2: 196A>G; T66A; rs4074536

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: CASQ2: T66A

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.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: CASQ2: 196A>G; Thr66Ala; rs4074536

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: CASQ2: T66A; rs4074536

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CASQ2: 196A>G; Thr66Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs4074536

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Sudden cardiac death due to the Wolff-Parkinson-White syndrome: A case report with genetic analysis.

Medicine

Qiu, Mingjie M; Lv, Bin B; Lin, Wei W; Ma, Jing J; Dong, Hongmei H

Publication Date: 2018-12

Variant appearance in text: CASQ2: 196A>G; T66A; rs4074536

PubMed Link: 30572429

Variant Present in the following documents:

• medi-97-e13248.pdf

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: CASQ2: T66A; rs4074536

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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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: CASQ2: 196A>G; Thr66Ala; rs4074536

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.

Genome Biology

Prins, Bram P BP; Mead, Timothy J TJ; Brody, Jennifer A JA; Sveinbjornsson, Gardar G; Ntalla, Ioanna I; Bihlmeyer, Nathan A NA; van den Berg, Marten M; Bork-Jensen, Jette J; Cappellani, Stefania S; Van Duijvenboden, Stefan S; Klena, Nikolai T NT; Gabriel, George C GC; Liu, Xiaoqin X; Gulec, Cagri C; Grarup, Niels N; Haessler, Jeffrey J; Hall, Leanne M LM; Iorio, Annamaria A; Isaacs, Aaron A; Li-Gao, Ruifang R; Lin, Honghuang H; Liu, Ching-Ti CT; Lyytikäinen, Leo-Pekka LP; Marten, Jonathan J; Mei, Hao H; Müller-Nurasyid, Martina M; Orini, Michele M; Padmanabhan, Sandosh S; Radmanesh, Farid F; Ramirez, Julia J; Robino, Antonietta A; Schwartz, Molly M; van Setten, Jessica J; Smith, Albert V AV; Verweij, Niek N; Warren, Helen R HR; Weiss, Stefan S; Alonso, Alvaro A; Arnar, David O DO; Bots, Michiel L ML; de Boer, Rudolf A RA; Dominiczak, Anna F AF; Eijgelsheim, Mark M; Ellinor, Patrick T PT; Guo, Xiuqing X; Felix, Stephan B SB; Harris, Tamara B TB; Hayward, Caroline C; Heckbert, Susan R SR; Huang, Paul L PL; Jukema, J W JW; Kähönen, Mika M; Kors, Jan A JA; Lambiase, Pier D PD; Launer, Lenore J LJ; Li, Man M; Linneberg, Allan A; Nelson, Christopher P CP; Pedersen, Oluf O; Perez, Marco M; Peters, Annette A; Polasek, Ozren O; Psaty, Bruce M BM; Raitakari, Olli T OT; Rice, Kenneth M KM; Rotter, Jerome I JI; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Spector, Tim D TD; Strauch, Konstantin K; Thorsteinsdottir, Unnur U; Tinker, Andrew A; Trompet, Stella S; Uitterlinden, André A; Vaartjes, Ilonca I; van der Meer, Peter P; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Wilson, James G JG; Xie, Zhijun Z; Asselbergs, Folkert W FW; Dörr, Marcus M; van Duijn, Cornelia M CM; Gasparini, Paolo P; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; Hansen, Torben T; Kääb, Stefan S; Kanters, Jørgen K JK; Kooperberg, Charles C; Lehtimäki, Terho T; Lin, Henry J HJ; Lubitz, Steven A SA; Mook-Kanamori, Dennis O DO; Conti, Francesco J FJ; Newton-Cheh, Christopher H CH; Rosand, Jonathan J; Rudan, Igor I; Samani, Nilesh J NJ; Sinagra, Gianfranco G; Smith, Blair H BH; Holm, Hilma H; Stricker, Bruno H BH; Ulivi, Sheila S; Sotoodehnia, Nona N; Apte, Suneel S SS; van der Harst, Pim P; Stefansson, Kari K; Munroe, Patricia B PB; Arking, Dan E DE; Lo, Cecilia W CW; Jamshidi, Yalda Y

Publication Date: 2018-07-17

Variant appearance in text: rs4074536

PubMed Link: 30012220

Variant Present in the following documents:

• Main text
• 13059_2018_Article_1457.pdf

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: CASQ2: 196A>G; T66A; rs4074536

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 7

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: rs4074536

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: CASQ2: T66A

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4074536

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, 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: CASQ2: T66A; rs4074536

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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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CASQ2: T66A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

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: CASQ2: T66A; rs4074536

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24

View BVdb publication page

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Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart.

Plos One

Koopmann, Tamara T TT; Adriaens, Michiel E ME; Moerland, Perry D PD; Marsman, Roos F RF; Westerveld, Margriet L ML; Lal, Sean S; Zhang, Taifang T; Simmons, Christine Q CQ; Baczko, Istvan I; dos Remedios, Cristobal C; Bishopric, Nanette H NH; Varro, Andras A; George, Alfred L AL; Lodder, Elisabeth M EM; Bezzina, Connie R CR

Publication Date: 2014

Variant appearance in text: rs4074536

PubMed Link: 24846176

Variant Present in the following documents:

• Main text
• pone.0097380.pdf

View BVdb publication page

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Association of CASQ2 polymorphisms with sudden cardiac arrest and heart failure in patients with coronary artery disease.

Heart Rhythm

Refaat, Marwan M MM; Aouizerat, Bradley E BE; Pullinger, Clive R CR; Malloy, Mary M; Kane, John J; Tseng, Zian H ZH

Publication Date: 2014-04

Variant appearance in text: rs4074536

PubMed Link: 24444446

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CASQ2: T66A; rs4074536

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

Plos One

Wang, Yilu Y; Wang, Zhimin Z; Yang, Qi Q; Zou, Yubao Y; Zhang, Hongju H; Yan, Chaowu C; Feng, Xinxing X; Chen, Yi Y; Zhang, Yin Y; Wang, Jizheng J; Zhou, Xianliang X; Ahmad, Ferhaan F; Hui, Rutai R; Song, Lei L

Publication Date: 2013

Variant appearance in text: CASQ2: 196A>G; Thr66Ala; rs4074536

PubMed Link: 23840593

Variant Present in the following documents:

• pone.0067087.s001.xls, sheet 1

View BVdb publication page

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Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.

Molecular Pain

Kobayashi, Daisuke D; Nishizawa, Daisuke D; Takasaki, Yoshito Y; Kasai, Shinya S; Kakizawa, Takashi T; Ikeda, Kazutaka K; Fukuda, Ken-ichi K

Publication Date: 2013-07-08

Variant appearance in text: rs4074536

PubMed Link: 23834954

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs4074536

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Current genomics in cardiovascular medicine.

Current Genomics

Sawhney, Vinit V; Brouilette, Scott S; Abrams, Dominic D; Schilling, Richard R; O'Brien, Benjamin B

Publication Date: 2012-09

Variant appearance in text: rs4074536

PubMed Link: 23450299

Variant Present in the following documents:

• Main text
• CG-6-446.pdf

View BVdb publication page

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SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.

Plos One

Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW

Publication Date: 2013

Variant appearance in text: rs4074536

PubMed Link: 23437344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.

Pediatric Cardiology

Faggioni, Michela M; Kryshtal, Dmytro O DO; Knollmann, Björn C BC

Publication Date: 2012-08

Variant appearance in text: CASQ2: T66A

PubMed Link: 22421959

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidemiology and genetics of sudden cardiac death.

Circulation

Deo, Rajat R; Albert, Christine M CM

Publication Date: 2012-01-31

Variant appearance in text: rs4074536

PubMed Link: 22294707

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

Nature Genetics

Sotoodehnia, Nona N; Isaacs, Aaron A; de Bakker, Paul I W PI; Dörr, Marcus M; Newton-Cheh, Christopher C; Nolte, Ilja M IM; van der Harst, Pim P; Müller, Martina M; Eijgelsheim, Mark M; Alonso, Alvaro A; Hicks, Andrew A AA; Padmanabhan, Sandosh S; Hayward, Caroline C; Smith, Albert Vernon AV; Polasek, Ozren O; Giovannone, Steven S; Fu, Jingyuan J; Magnani, Jared W JW; Marciante, Kristin D KD; Pfeufer, Arne A; Gharib, Sina A SA; Teumer, Alexander A; Li, Man M; Bis, Joshua C JC; Rivadeneira, Fernando F; Aspelund, Thor T; Köttgen, Anna A; Johnson, Toby T; Rice, Kenneth K; Sie, Mark P S MP; Wang, Ying A YA; Klopp, Norman N; Fuchsberger, Christian C; Wild, Sarah H SH; Mateo Leach, Irene I; Estrada, Karol K; Völker, Uwe U; Wright, Alan F AF; Asselbergs, Folkert W FW; Qu, Jiaxiang J; Chakravarti, Aravinda A; Sinner, Moritz F MF; Kors, Jan A JA; Petersmann, Astrid A; Harris, Tamara B TB; Soliman, Elsayed Z EZ; Munroe, Patricia B PB; Psaty, Bruce M BM; Oostra, Ben A BA; Cupples, L Adrienne LA; Perz, Siegfried S; de Boer, Rudolf A RA; Uitterlinden, André G AG; Völzke, Henry H; Spector, Timothy D TD; Liu, Fang-Yu FY; Boerwinkle, Eric E; Dominiczak, Anna F AF; Rotter, Jerome I JI; van Herpen, Gé G; Levy, Daniel D; Wichmann, H-Erich HE; van Gilst, Wiek H WH; Witteman, Jacqueline C M JC; Kroemer, Heyo K HK; Kao, W H Linda WH; Heckbert, Susan R SR; Meitinger, Thomas T; Hofman, Albert A; Campbell, Harry H; Folsom, Aaron R AR; van Veldhuisen, Dirk J DJ; Schwienbacher, Christine C; O'Donnell, Christopher J CJ; Volpato, Claudia Beu CB; Caulfield, Mark J MJ; Connell, John M JM; Launer, Lenore L; Lu, Xiaowen X; Franke, Lude L; Fehrmann, Rudolf S N RS; te Meerman, Gerard G; Groen, Harry J M HJ; Weersma, Rinse K RK; van den Berg, Leonard H LH; Wijmenga, Cisca C; Ophoff, Roel A RA; Navis, Gerjan G; Rudan, Igor I; Snieder, Harold H; Wilson, James F JF; Pramstaller, Peter P PP; Siscovick, David S DS; Wang, Thomas J TJ; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Felix, Stephan B SB; Fishman, Glenn I GI; Jamshidi, Yalda Y; Stricker, Bruno H Ch BH; Samani, Nilesh J NJ; Kääb, Stefan S; Arking, Dan E DE

Publication Date: 2010-12

Variant appearance in text: CASQ2: T66A; rs4074536

PubMed Link: 21076409

Variant Present in the following documents:

• Main text
• NIHMS247823-supplement-1.pdf
• nihms247823.pdf

View BVdb publication page

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Targeting device therapy: genomics of sudden death.

Heart Failure Clinics

Frangiskakis, J Michael JM; London, Barry B

Publication Date: 2010-01

Variant appearance in text: CASQ2: T66A

PubMed Link: 19945065

Variant Present in the following documents:

• Main text

View BVdb publication page

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