Publications:

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Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics

Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N

Publication Date: 2023-01-26

Variant appearance in text: ADAMTS13: Ala140Ala; rs3118667

PubMed Link: 36703207

Variant Present in the following documents:

• 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: ADAMTS13: A140A; rs3118667

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: ADAMTS13: A140A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_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: ADAMTS13: A140A

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

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: ADAMTS13: A140A; rs3118667

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.

Blood Advances

Jankowska, Katarzyna I KI; Meyer, Douglas D; Holcomb, David D DD; Kames, Jacob J; Hamasaki-Katagiri, Nobuko N; Katneni, Upendra K UK; Hunt, Ryan C RC; Ibla, Juan C JC; Kimchi-Sarfaty, Chava C

Publication Date: 2022-09-27

Variant appearance in text: ADAMTS13: A140A; rs3118667

PubMed Link: 35667091

Variant Present in the following documents:

• Main text
• advancesADV2022007065-suppl1.pdf
• advancesADV2022007065.pdf

View BVdb publication page

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Whole-genome sequencing reveals host factors underlying critical COVID-19.

Nature

Kousathanas, Athanasios A; Pairo-Castineira, Erola E; Rawlik, Konrad K; Stuckey, Alex A; Odhams, Christopher A CA; Walker, Susan S; Russell, Clark D CD; Malinauskas, Tomas T; Wu, Yang Y; Millar, Jonathan J; Shen, Xia X; Elliott, Katherine S KS; Griffiths, Fiona F; Oosthuyzen, Wilna W; Morrice, Kirstie K; Keating, Sean S; Wang, Bo B; Rhodes, Daniel D; Klaric, Lucija L; Zechner, Marie M; Parkinson, Nick N; Siddiq, Afshan A; Goddard, Peter P; Donovan, Sally S; Maslove, David D; Nichol, Alistair A; Semple, Malcolm G MG; Zainy, Tala T; Maleady-Crowe, Fiona F; Todd, Linda L; Salehi, Shahla S; Knight, Julian J; Elgar, Greg G; Chan, Georgia G; Arumugam, Prabhu P; Patch, Christine C; Rendon, Augusto A; Bentley, David D; Kingsley, Clare C; Kosmicki, Jack A JA; Horowitz, Julie E JE; Baras, Aris A; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Justice, Anne A; Mirshahi, Tooraj T; Oetjens, Matthew M; Rader, Daniel J DJ; Ritchie, Marylyn D MD; Verma, Anurag A; Fowler, Tom A TA; Shankar-Hari, Manu M; Summers, Charlotte C; Hinds, Charles C; Horby, Peter P; Ling, Lowell L; McAuley, Danny D; Montgomery, Hugh H; Openshaw, Peter J M PJM; Elliott, Paul P; Walsh, Timothy T; Tenesa, Albert A; , ; , ; , ; Fawkes, Angie A; Murphy, Lee L; Rowan, Kathy K; Ponting, Chris P CP; Vitart, Veronique V; Wilson, James F JF; Yang, Jian J; Bretherick, Andrew D AD; Scott, Richard H RH; Hendry, Sara Clohisey SC; Moutsianas, Loukas L; Law, Andy A; Caulfield, Mark J MJ; Baillie, J Kenneth JK

Publication Date: 2022-07

Variant appearance in text: rs3118667

PubMed Link: 35255492

Variant Present in the following documents:

• 41586_2022_4576_MOESM1_ESM.pdf

View BVdb publication page

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The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

International Urogynecology Journal

Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L

Publication Date: 2022-02

Variant appearance in text: ADAMTS13: A140A; rs3118667

PubMed Link: 34973089

Variant Present in the following documents:

• 192_2021_4917_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

International Urogynecology Journal

Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L

Publication Date: 2022-01-01

Variant appearance in text: ADAMTS13: A140A; rs3118667

PubMed Link: 34973089

Variant Present in the following documents:

• 192_2021_4917_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One

Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F

Publication Date: 2021

Variant appearance in text: ADAMTS13: A140A; rs3118667

PubMed Link: 34662354

Variant Present in the following documents:

• Main text
• pone.0258675.pdf
• pone.0258675.s001.pdf

View BVdb publication page

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Verification of the Role of ADAMTS13 in the Cardiovascular Disease Using Two-Sample Mendelian Randomization.

Frontiers In Genetics

Ye, Zixiang Z; Zheng, Jingang J

Publication Date: 2021

Variant appearance in text: rs3118667

PubMed Link: 34276770

Variant Present in the following documents:

• Main text
• fgene-12-660989.pdf

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: ADAMTS13: A140A; rs3118667

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: ADAMTS13: A140A; rs3118667

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: ADAMTS13: A140A; rs3118667

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.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: rs3118667

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: rs3118667

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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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Research And Practice In Thrombosis And Haemostasis

Fidalgo, Teresa T; Martinho, Patrícia P; Pinto, Catarina S CS; Oliveira, Ana C AC; Salvado, Ramon R; Borràs, Nina N; Coucelo, Margarida M; Manco, Licínio L; Maia, Tabita T; Mendes, M João MJ; Del Orbe Barreto, Rafael R; Corrales, Irene I; Vidal, Francisco F; Ribeiro, M Letícia ML

Publication Date: 2017-07

Variant appearance in text: rs3118667

PubMed Link: 30046676

Variant Present in the following documents:

• RTH2-1-69-s004.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: ADAMTS13: A140A; rs3118667

PubMed Link: 29974678

Variant Present in the following documents:

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

View BVdb publication page

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Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels.

Blood Advances

Ma, Qianyi Q; Jacobi, Paula M PM; Emmer, Brian T BT; Kretz, Colin A CA; Ozel, Ayse Bilge AB; McGee, Beth B; Kimchi-Sarfaty, Chava C; Ginsburg, David D; Li, Jun Z JZ; Desch, Karl C KC

Publication Date: 2017-06-27

Variant appearance in text: rs3118667

PubMed Link: 29296746

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: ADAMTS13: A140A; rs3118667

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Entropy-based method for assessing the influence of genetic markers and covariates on hypertension: application to Genetic Analysis Workshop 18 data.

Bmc Proceedings

Liu, Jun J; Beyene, Joseph J

Publication Date: 2014

Variant appearance in text: rs3118667

PubMed Link: 25519419

Variant Present in the following documents:

• Main text
• 1753-6561-8-S1-S97.pdf

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: ADAMTS13: A140A; rs3118667

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: ADAMTS13: A140A; rs3118667

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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Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches.

Plos One

Edwards, Nathan C NC; Hing, Zachary A ZA; Perry, Avital A; Blaisdell, Adam A; Kopelman, David B DB; Fathke, Robert R; Plum, William W; Newell, Jordan J; Allen, Courtni E CE; S, Geetha G; Shapiro, Aaron A; Okunji, Chinyere C; Kosti, Idit I; Shomron, Noam N; Grigoryan, Vahan V; Przytycka, Teresa M TM; Sauna, Zuben E ZE; Salari, Raheleh R; Mandel-Gutfreund, Yael Y; Komar, Anton A AA; Kimchi-Sarfaty, Chava C

Publication Date: 2012

Variant appearance in text: rs3118667

PubMed Link: 22768050

Variant Present in the following documents:

• Main text
• pone.0038864.pdf

View BVdb publication page

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Association of ADAMTS13 polymorphism with cerebral malaria.

Malaria Journal

Kraisin, Sirima S; Naka, Izumi I; Patarapotikul, Jintana J; Nantakomol, Duangdao D; Nuchnoi, Pornlada P; Hananantachai, Hathairad H; Tsuchiya, Naoyuki N; Ohashi, Jun J

Publication Date: 2011-12-14

Variant appearance in text: rs3118667

PubMed Link: 22168261

Variant Present in the following documents:

• Main text

View BVdb publication page

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