Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: F2: T165M

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19.

Genes

Fevraleva, Irina I; Mamchich, Daria D; Vinogradov, Dmitriy D; Chabaeva, Yulia Y; Kulikov, Sergey S; Makarik, Tatiana T; Margaryan, Vahe V; Manasyan, Georgiy G; Novikova, Veronika V; Rachina, Svetlana S; Melkonyan, Georgiy G; Lytkina, Karine K

Publication Date: 2023-03-04

Variant appearance in text: rs5896

PubMed Link: 36980916

Variant Present in the following documents:

• genes-14-00644.pdf

View BVdb publication page

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Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology.

Diagnostics (Basel, Switzerland)

Chia, Yuh Cai YC; Siti Asmaa, Mat Jusoh MJ; Ramli, Marini M; Woon, Peng Yeong PY; Johan, Muhammad Farid MF; Hassan, Rosline R; Islam, Md Asiful MA

Publication Date: 2023-01-03

Variant appearance in text: F2: T165M

PubMed Link: 36611455

Variant Present in the following documents:

• Main text
• diagnostics-13-00163.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs5896

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.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: F2: T165M; rs5896

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: F2: T165M

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_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: F2: T165M; rs5896

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Study on the Correlation between the Prevalence of Venous Thromboembolism in Kazak Pregnant and Lying-In Women in Xinjiang.

Contrast Media & Molecular Imaging

Tian, Guanglei G; Ci, Hongbo H; Song, Wei W; Zhu, Bing B; Chen, Xiong X; Ge, XiaoHu X

Publication Date: 2022

Variant appearance in text: rs5896

PubMed Link: 36017017

Variant Present in the following documents:

• CMMI2022-7001743.pdf

View BVdb publication page

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Genetic Analysis of a Pedigree With Antithrombin and Prothrombin Compound Mutations and Antithrombin Heterozygotes.

Frontiers In Genetics

Zhang, Haiyue H; Hu, Yiling Y; Pan, Dongli D; Xv, Yuehua Y; Shen, Weifeng W

Publication Date: 2022

Variant appearance in text: F2: 494C>T; T165M

PubMed Link: 35444682

Variant Present in the following documents:

• Main text
• fgene-13-832582.pdf

View BVdb publication page

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Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience

Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD

Publication Date: 2022-01-21

Variant appearance in text: F2: T165M; rs5896

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Comparative Metabolomics Reveals the Microenvironment of Common T-Helper Cells and Differential Immune Cells Linked to Unique Periapical Lesions.

Frontiers In Immunology

Altaie, Alaa Muayad AM; Venkatachalam, Thenmozhi T; Samaranayake, Lakshman P LP; Soliman, Sameh S M SSM; Hamoudi, Rifat R

Publication Date: 2021

Variant appearance in text: rs5896

PubMed Link: 34539639

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and Non-Genetic Factors Impact on INR Normalization in Preprocedural Warfarin Management.

Pharmacogenomics And Personalized Medicine

Eljilany, Islam I; Elarref, Mohamed M; Shallik, Nabil N; Elzouki, Abdel-Naser AN; Bader, Loulia L; El-Bardissy, Ahmed A; Abdelsamad, Osama O; Al-Badriyeh, Daoud D; Cavallari, Larisa H LH; Elewa, Hazem H

Publication Date: 2021

Variant appearance in text: rs5896

PubMed Link: 34483679

Variant Present in the following documents:

• Main text
• pgpm-14-1069.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: F2: 494C>T; T165M; rs5896

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene.

Research And Practice In Thrombosis And Haemostasis

Mansory, Eman M EM; Bhai, Pratibha P; Stuart, Alan A; Laudenbach, Lori L; Sadikovic, Bekim B; Lazo-Langner, Alejandro A

Publication Date: 2021-05

Variant appearance in text: F2: 494C>T; Thr165Met

PubMed Link: 33977210

Variant Present in the following documents:

• Main text

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: F2: T165M; rs5896

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: F2: 494C>T; T165M; rs5896

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2

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: F2: 494C>T; T165M; rs5896

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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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: F2: T165M

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.

Journal Of The American Heart Association

Yaoita, Nobuhiro N; Satoh, Kimio K; Satoh, Taijyu T; Shimizu, Toru T; Saito, Sakae S; Sugimura, Koichiro K; Tatebe, Shunsuke S; Yamamoto, Saori S; Aoki, Tatsuo T; Kikuchi, Nobuhiro N; Kurosawa, Ryo R; Miyata, Satoshi S; Nagasaki, Masao M; Yasuda, Jun J; Shimokawa, Hiroaki H

Publication Date: 2020-11-03

Variant appearance in text: F2: 494C>T

PubMed Link: 33103541

Variant Present in the following documents:

• Main text
• JAH3-9-e015902.pdf

View BVdb publication page

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A novel loss-of-function mutation of PBK associated with human kidney stone disease.

Scientific Reports

Nettuwakul, Choochai C; Sawasdee, Nunghathai N; Praditsap, Oranud O; Rungroj, Nanyawan N; Pasena, Arnat A; Dechtawewat, Thanyaporn T; Deejai, Nipaporn N; Sritippayawan, Suchai S; Rojsatapong, Santi S; Chaowagul, Wipada W; Yenchitsomanus, Pa-Thai PT

Publication Date: 2020-06-24

Variant appearance in text: F2: Thr165Met; rs5896

PubMed Link: 32581305

Variant Present in the following documents:

• 41598_2020_Article_66936.pdf

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: F2: T165M; rs5896

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: F2: 494C>T; T165M; rs5896

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: F2: T165M

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_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: F2: 494C>T; T165M; rs5896

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: F2: T165M

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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Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology

Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ

Publication Date: 2020-04

Variant appearance in text: rs5896

PubMed Link: 31884074

Variant Present in the following documents:

• Main text

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: F2: 494C>T; Thr165Met; rs5896

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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Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications

Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: F2: 494C>T; T165M; rs5896

PubMed Link: 30962452

Variant Present in the following documents:

• 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

---

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: F2: 494C>T; Thr165Met

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: F2: T165M; rs5896

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: F2: T165M

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

---

Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients.

Pharmacogenomics And Personalized Medicine

Galvez, Jubby Marcela JM; Restrepo, Carlos Martin CM; Contreras, Nora Constanza NC; Alvarado, Clara C; Calderón-Ospina, Carlos-Alberto CA; Peña, Nidia N; Cifuentes, Ricardo A RA; Duarte, Daniela D; Laissue, Paul P; Fonseca, Dora Janeth DJ

Publication Date: 2018

Variant appearance in text: rs5896

PubMed Link: 30410385

Variant Present in the following documents:

• Main text
• pgpm-11-169.pdf

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: F2: T165M; rs5896

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: F2: 494C>T; Thr165Met; rs5896

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: F2: T165M; rs5896

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

View BVdb publication page

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Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

Scientific Reports

Nettuwakul, Choochai C; Praditsap, Oranud O; Sawasdee, Nunghathai N; Rungroj, Nanyawan N; Ruamyod, Katesirin K; Watanapa, Wattana B WB; Junking, Mutita M; Sangnual, Sittideth S; Sritippayawan, Suchai S; Cheunsuchon, Boonyarit B; Chuawattana, Duangporn D; Rojsatapong, Santi S; Chaowagul, Wipada W; Dib-Hajj, Sulayman D SD; Waxman, Stephen G SG; Yenchitsomanus, Pa-Thai PT

Publication Date: 2018-07-11

Variant appearance in text: F2: T165M

PubMed Link: 29992996

Variant Present in the following documents:

• Main text
• 41598_2018_Article_28623.pdf

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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: F2: 494C>T; T165M; rs5896

PubMed Link: 29974678

Variant Present in the following documents:

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

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: F2: T165M; rs5896

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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PECAN: library-free peptide detection for data-independent acquisition tandem mass spectrometry data.

Nature Methods

Ting, Ying S YS; Egertson, Jarrett D JD; Bollinger, James G JG; Searle, Brian C BC; Payne, Samuel H SH; Noble, William Stafford WS; MacCoss, Michael J MJ

Publication Date: 2017-09

Variant appearance in text: rs5896

PubMed Link: 28783153

Variant Present in the following documents:

• NIHMS893716-supplement-2.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: rs5896

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Warfarin Pharmacogenomics in Diverse Populations.

Pharmacotherapy

Kaye, Justin B JB; Schultz, Lauren E LE; Steiner, Heidi E HE; Kittles, Rick A RA; Cavallari, Larisa H LH; Karnes, Jason H JH

Publication Date: 2017-09

Variant appearance in text: rs5896

PubMed Link: 28672100

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genetic risk factor for thrombophilia in a Han Chinese family.

Molecular Medicine Reports

Sun, Guoping G; Jia, Yicong Y; Meng, Jingye J; Ou, Minglin M; Zhu, Peng P; Cong, Shan S; Luo, Yadan Y; Sui, Weiguo W; Dai, Yong Y

Publication Date: 2017-04

Variant appearance in text: F2: T165M; rs5896

PubMed Link: 28259966

Variant Present in the following documents:

• Main text
• mmr-15-04-1668.pdf

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: rs5896

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

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: rs5896

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.

Nature Communications

Wu, Kui K; Zhang, Xin X; Li, Fuqiang F; Xiao, Dakai D; Hou, Yong Y; Zhu, Shida S; Liu, Dongbing D; Ye, Xiaofei X; Ye, Mingzhi M; Yang, Jie J; Shao, Libin L; Pan, Hui H; Lu, Na N; Yu, Yuan Y; Liu, Liping L; Li, Jin J; Huang, Liyan L; Tang, Hailing H; Deng, Qiuhua Q; Zheng, Yue Y; Peng, Lihua L; Liu, Geng G; Gu, Xia X; He, Ping P; Gu, Yingying Y; Lin, Weixuan W; He, Huiming H; Xie, Guoyun G; Liang, Han H; An, Na N; Wang, Hui H; Teixeira, Manuel M; Vieira, Joana J; Liang, Wenhua W; Zhao, Xin X; Peng, Zhiyu Z; Mu, Feng F; Zhang, Xiuqing X; Xu, Xun X; Yang, Huanming H; Kristiansen, Karsten K; Wang, Jian J; Zhong, Nanshan N; Wang, Jun J; Pan-Hammarström, Qiang Q; He, Jianxing J

Publication Date: 2015-12-09

Variant appearance in text: F2: T165M

PubMed Link: 26647728

Variant Present in the following documents:

• ncomms10131-s8.xlsx, sheet 1

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: F2: T165M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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The impact of low-frequency and rare variants on lipid levels.

Nature Genetics

Surakka, Ida I; Horikoshi, Momoko M; Mägi, Reedik R; Sarin, Antti-Pekka AP; Mahajan, Anubha A; Lagou, Vasiliki V; Marullo, Letizia L; Ferreira, Teresa T; Miraglio, Benjamin B; Timonen, Sanna S; Kettunen, Johannes J; Pirinen, Matti M; Karjalainen, Juha J; Thorleifsson, Gudmar G; Hägg, Sara S; Hottenga, Jouke-Jan JJ; Isaacs, Aaron A; Ladenvall, Claes C; Beekman, Marian M; Esko, Tõnu T; Ried, Janina S JS; Nelson, Christopher P CP; Willenborg, Christina C; Gustafsson, Stefan S; Westra, Harm-Jan HJ; Blades, Matthew M; de Craen, Anton J M AJ; de Geus, Eco J EJ; Deelen, Joris J; Grallert, Harald H; Hamsten, Anders A; Havulinna, Aki S AS; Hengstenberg, Christian C; Houwing-Duistermaat, Jeanine J JJ; Hyppönen, Elina E; Karssen, Lennart C LC; Lehtimäki, Terho T; Lyssenko, Valeriya V; Magnusson, Patrik K E PK; Mihailov, Evelin E; Müller-Nurasyid, Martina M; Mpindi, John-Patrick JP; Pedersen, Nancy L NL; Penninx, Brenda W J H BW; Perola, Markus M; Pers, Tune H TH; Peters, Annette A; Rung, Johan J; Smit, Johannes H JH; Steinthorsdottir, Valgerdur V; Tobin, Martin D MD; Tsernikova, Natalia N; van Leeuwen, Elisabeth M EM; Viikari, Jorma S JS; Willems, Sara M SM; Willemsen, Gonneke G; Schunkert, Heribert H; Erdmann, Jeanette J; Samani, Nilesh J NJ; Kaprio, Jaakko J; Lind, Lars L; Gieger, Christian C; Metspalu, Andres A; Slagboom, P Eline PE; Groop, Leif L; van Duijn, Cornelia M CM; Eriksson, Johan G JG; Jula, Antti A; Salomaa, Veikko V; Boomsma, Dorret I DI; Power, Christine C; Raitakari, Olli T OT; Ingelsson, Erik E; Järvelin, Marjo-Riitta MR; Thorsteinsdottir, Unnur U; Franke, Lude L; Ikonen, Elina E; Kallioniemi, Olli O; Pietiäinen, Vilja V; Lindgren, Cecilia M CM; Stefansson, Kari K; Palotie, Aarno A; McCarthy, Mark I MI; Morris, Andrew P AP; Prokopenko, Inga I; Ripatti, Samuli S; ,

Publication Date: 2015-06

Variant appearance in text: rs5896

PubMed Link: 25961943

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study.

Bmc Cancer

Tinholt, Mari M; Viken, Marte Kathrine MK; Dahm, Anders Erik AE; Vollan, Hans Kristian Moen HK; Sahlberg, Kristine Kleivi KK; Garred, Oystein O; Børresen-Dale, Anne-Lise AL; Jacobsen, Anne Flem AF; Kristensen, Vessela V; Bukholm, Ida I; Kåresen, Rolf R; Schlichting, Ellen E; Skretting, Grethe G; Lie, Benedicte Alexandra BA; Sandset, Per Morten PM; Iversen, Nina N

Publication Date: 2014-11-19

Variant appearance in text: rs5896

PubMed Link: 25407022

Variant Present in the following documents:

• Main text

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: F2: T165M; rs5896

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

Plos One

Kulkarni, Bipin P BP; Nair, Sona B SB; Vijapurkar, Manasi M; Mota, Leenam L; Shanbhag, Sharda S; Ali, Shehnaz S; Shetty, Shrimati D SD; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: F2: Thr165Met

PubMed Link: 25275492

Variant Present in the following documents:

• Main text
• pone.0108683.pdf

View BVdb publication page

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A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.

Bmc Medical Genetics

Rungroj, Nanyawan N; Nettuwakul, Choochai C; Sudtachat, Nirinya N; Praditsap, Oranud O; Sawasdee, Nunghathai N; Sritippayawan, Suchai S; Chuawattana, Duangporn D; Yenchitsomanus, Pa-Thai PT

Publication Date: 2014-05-02

Variant appearance in text: F2: T165M

PubMed Link: 24886237

Variant Present in the following documents:

• Main text
• 1471-2350-15-50.pdf

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: F2: T165M; rs5896

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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Association between human prothrombin variant (T165M) and kidney stone disease.

Plos One

Rungroj, Nanyawan N; Sudtachat, Nirinya N; Nettuwakul, Choochai C; Sawasdee, Nunghathai N; Praditsap, Oranud O; Jungtrakoon, Prapaporn P; Sritippayawan, Suchai S; Chuawattana, Duangporn D; Borvornpadungkitti, Sombat S; Predanon, Chagkrapan C; Susaengrat, Wattanachai W; Yenchitsomanus, Pa-Thai PT

Publication Date: 2012

Variant appearance in text: F2: 494C>T; T165M; rs5896

PubMed Link: 23029076

Variant Present in the following documents:

• pone.0045533.pdf

View BVdb publication page

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