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: VCAN: G428D

PubMed Link: 37012232

Variant Present in the following documents:

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

View BVdb publication page

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Chemical, Molecular, and Single-nucleus Analysis Reveal Chondroitin Sulfate Proteoglycan Aberrancy in Fibrolamellar Carcinoma.

Cancer Research Communications

Francisco, Adam B AB; Li, Jine J; Farghli, Alaa R AR; Kanke, Matt M; Shui, Bo B; Munn, Paul R PR; Grenier, Jennifer K JK; Soloway, Paul D PD; Wang, Zhangjie Z; Reid, Lola M LM; Liu, Jian J; Sethupathy, Praveen P

Publication Date: 2022-07

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 36923282

Variant Present in the following documents:

• crc-21-0177.pdf

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: VCAN: G428D; rs2287926

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.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: VCAN: G428D; rs2287926

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Assessing causal relationships between sarcopenia and nonalcoholic fatty liver disease: A bidirectional Mendelian randomization study.

Frontiers In Nutrition

Zhao, Ze-Hua ZH; Zou, Juanjuan J; Huang, Xin X; Fan, Yu-Chen YC; Wang, Kai K

Publication Date: 2022

Variant appearance in text: rs2287926

PubMed Link: 36438727

Variant Present in the following documents:

• Main text
• fnut-09-971913.pdf

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: VCAN: G428D

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Association of Versican Gene Polymorphisms with Intracranial Aneurysm Susceptibility in the Eastern Chinese Population.

Neuropsychiatric Disease And Treatment

Zhu, Lei L; Yu, Chuanqing C; Zhou, Shuping S; Xue, Min M; Chen, Jie J; Wu, Meijun M; Dong, Shuyang S; Huang, Guanmin G; Chang, Yueyue Y; Zhang, Mei M

Publication Date: 2021

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 34908835

Variant Present in the following documents:

• Main text
• ndt-17-3531.pdf

View BVdb publication page

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Associations between genetic loci related to lean mass and body composition in type 2 diabetes.

Geriatrics & Gerontology International

Minohara, Tatsuro T; Noso, Shinsuke S; Babaya, Naru N; Hiromine, Yoshihisa Y; Taketomo, Yasunori Y; Niwano, Fumimaru F; Makutani, Yukako Y; Yoshida, Sawa S; Yasutake, Sara S; Imamura, Shuzo S; Ikegami, Hiroshi H

Publication Date: 2021-10

Variant appearance in text: rs2287926

PubMed Link: 34390125

Variant Present in the following documents:

• Main text
• GGI-21-932.pdf

View BVdb publication page

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Identification of Hub Genes Associated with the Pathogenesis of Intracranial Aneurysm via Integrated Bioinformatics Analysis.

International Journal Of General Medicine

Zhong, Aifang A; Ding, Ning N; Zhou, Yang Y; Yang, Guifang G; Peng, Zhenyu Z; Zhang, Hongliang H; Chai, Xiangping X

Publication Date: 2021

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 34354366

Variant Present in the following documents:

• ijgm-14-4039.pdf

View BVdb publication page

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Regulatory VCAN polymorphism is associated with shoulder pain and disability in breast cancer survivors.

Human Genomics

Mafu, Trevor S TS; September, Alison V AV; Shamley, Delva D

Publication Date: 2021-06-23

Variant appearance in text: rs2287926

PubMed Link: 34162438

Variant Present in the following documents:

• Main text
• 40246_2021_Article_337.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: VCAN: 1283G>A; G428D; rs2287926

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: VCAN: G428D; rs2287926

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Molecular Correlates of Hemorrhage and Edema Volumes Following Human Intracerebral Hemorrhage Implicate Inflammation, Autophagy, mRNA Splicing, and T Cell Receptor Signaling.

Translational Stroke Research

Durocher, Marc M; Knepp, Bodie B; Yee, Alan A; Jickling, Glen G; Rodriguez, Fernando F; Ng, Kwan K; Zhan, Xinhua X; Hamade, Farah F; Ferino, Eva E; Amini, Hajar H; Carmona-Mora, Paulina P; Hull, Heather H; Ander, Bradley P BP; Sharp, Frank R FR; Stamova, Boryana B

Publication Date: 2021-10

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 33206327

Variant Present in the following documents:

• 12975_2020_869_MOESM1_ESM.pdf

View BVdb publication page

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics

Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M

Publication Date: 2020-09-01

Variant appearance in text: VCAN: 1283G>A; Gly428Asp

PubMed Link: 32867697

Variant Present in the following documents:

• 12881_2020_1110_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Identification of key genes in atrial fibrillation using bioinformatics analysis.

Bmc Cardiovascular Disorders

Liu, Yueheng Y; Tang, Rui R; Zhao, Ye Y; Jiang, Xuan X; Wang, Yuchao Y; Gu, Tianxiang T

Publication Date: 2020-08-10

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 32778054

Variant Present in the following documents:

• 12872_2020_Article_1653.pdf

View BVdb publication page

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Genetic variation in lean body mass, changes of appetite and weight loss in response to diet interventions: The POUNDS Lost trial.

Diabetes, Obesity & Metabolism

Li, Xiang X; Zhou, Tao T; Ma, Hao H; Heianza, Yoriko Y; Champagne, Catherine M CM; Williamson, Donald A DA; Bray, George A GA; Sacks, Frank M FM; Qi, Lu L

Publication Date: 2020-12

Variant appearance in text: rs2287926

PubMed Link: 32734691

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted genotype analyses of GWAS-derived lean body mass and handgrip strength-associated single-nucleotide polymorphisms in elite master athletes.

American Journal Of Physiology. Regulatory, Integrative And Comparative Physiology

Crossland, Hannah H; Piasecki, Jessica J; McCormick, Daniel D; Phillips, Bethan E BE; Wilkinson, Daniel J DJ; Smith, Kenneth K; McPhee, Jamie S JS; Piasecki, Mathew M; Atherton, Philip J PJ

Publication Date: 2020-08-01

Variant appearance in text: rs2287926

PubMed Link: 32579386

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: VCAN: 1283G>A; Gly428Asp; rs2287926

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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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: VCAN: 1283G>A; Gly428Asp

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: VCAN: G428D; rs2287926

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

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: VCAN: 1042+7193G>A; Gly428Asp; rs2287926

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Disentangling the genetics of lean mass.

The American Journal Of Clinical Nutrition

Karasik, David D; Zillikens, M Carola MC; Hsu, Yi-Hsiang YH; Aghdassi, Ali A; Akesson, Kristina K; Amin, Najaf N; Barroso, Inês I; Bennett, David A DA; Bertram, Lars L; Bochud, Murielle M; Borecki, Ingrid B IB; Broer, Linda L; Buchman, Aron S AS; Byberg, Liisa L; Campbell, Harry H; Campos-Obando, Natalia N; Cauley, Jane A JA; Cawthon, Peggy M PM; Chambers, John C JC; Chen, Zhao Z; Cho, Nam H NH; Choi, Hyung Jin HJ; Chou, Wen-Chi WC; Cummings, Steven R SR; de Groot, Lisette C P G M LCPGM; De Jager, Phillip L PL; Demuth, Ilja I; Diatchenko, Luda L; Econs, Michael J MJ; Eiriksdottir, Gudny G; Enneman, Anke W AW; Eriksson, Joel J; Eriksson, Johan G JG; Estrada, Karol K; Evans, Daniel S DS; Feitosa, Mary F MF; Fu, Mao M; Gieger, Christian C; Grallert, Harald H; Gudnason, Vilmundur V; Lenore, Launer J LJ; Hayward, Caroline C; Hofman, Albert A; Homuth, Georg G; Huffman, Kim M KM; Husted, Lise B LB; Illig, Thomas T; Ingelsson, Erik E; Ittermann, Till T; Jansson, John-Olov JO; Johnson, Toby T; Biffar, Reiner R; Jordan, Joanne M JM; Jula, Antti A; Karlsson, Magnus M; Khaw, Kay-Tee KT; Kilpeläinen, Tuomas O TO; Klopp, Norman N; Kloth, Jacqueline S L JSL; Koller, Daniel L DL; Kooner, Jaspal S JS; Kraus, William E WE; Kritchevsky, Stephen S; Kutalik, Zoltán Z; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Laakso, Markku M; Lahti, Jari J; Lang, Thomas T; Langdahl, Bente L BL; Lerch, Markus M MM; Lewis, Joshua R JR; Lill, Christina C; Lind, Lars L; Lindgren, Cecilia C; Liu, Yongmei Y; Livshits, Gregory G; Ljunggren, Östen Ö; Loos, Ruth J F RJF; Lorentzon, Mattias M; Luan, Jian'an J; Luben, Robert N RN; Malkin, Ida I; McGuigan, Fiona E FE; Medina-Gomez, Carolina C; Meitinger, Thomas T; Melhus, Håkan H; Mellström, Dan D; Michaëlsson, Karl K; Mitchell, Braxton D BD; Morris, Andrew P AP; Mosekilde, Leif L; Nethander, Maria M; Newman, Anne B AB; O'Connell, Jeffery R JR; Oostra, Ben A BA; Orwoll, Eric S ES; Palotie, Aarno A; Peacock, Munro M; Perola, Markus M; Peters, Annette A; Prince, Richard L RL; Psaty, Bruce M BM; Räikkönen, Katri K; Ralston, Stuart H SH; Ripatti, Samuli S; Rivadeneira, Fernando F; Robbins, John A JA; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Satterfield, Suzanne S; Schipf, Sabine S; Shin, Chan Soo CS; Smith, Albert V AV; Smith, Shad B SB; Soranzo, Nicole N; Spector, Timothy D TD; Stancáková, Alena A; Stefansson, Kari K; Steinhagen-Thiessen, Elisabeth E; Stolk, Lisette L; Streeten, Elizabeth A EA; Styrkarsdottir, Unnur U; Swart, Karin M A KMA; Thompson, Patricia P; Thomson, Cynthia A CA; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tikkanen, Emmi E; Tranah, Gregory J GJ; Uitterlinden, André G AG; van Duijn, Cornelia M CM; van Schoor, Natasja M NM; Vandenput, Liesbeth L; Vollenweider, Peter P; Völzke, Henry H; Wactawski-Wende, Jean J; Walker, Mark M; J Wareham, Nicholas N; Waterworth, Dawn D; Weedon, Michael N MN; Wichmann, H-Erich HE; Widen, Elisabeth E; Williams, Frances M K FMK; Wilson, James F JF; Wright, Nicole C NC; Yerges-Armstrong, Laura M LM; Yu, Lei L; Zhang, Weihua W; Zhao, Jing Hua JH; Zhou, Yanhua Y; Nielson, Carrie M CM; Harris, Tamara B TB; Demissie, Serkalem S; Kiel, Douglas P DP; Ohlsson, Claes C

Publication Date: 2019-02-01

Variant appearance in text: rs2287926

PubMed Link: 30721968

Variant Present in the following documents:

• Main text

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: VCAN: G428D; rs2287926

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: VCAN: 1283G>A; Gly428Asp; rs2287926

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Identification of critical genes to predict recurrence and death in colon cancer: integrating gene expression and bioinformatics analysis.

Cancer Cell International

Long, Xuan X; Deng, Zhigang Z; Li, Guoqiang G; Wang, Ziwei Z

Publication Date: 2018

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 30237752

Variant Present in the following documents:

• 12935_2018_Article_640.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: VCAN: 1283G>A; G428D; rs2287926

PubMed Link: 29974678

Variant Present in the following documents:

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

View BVdb publication page

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Regulatory RNA binding proteins contribute to the transcriptome-wide splicing alterations in human cellular senescence.

Aging

Dong, Qiongye Q; Wei, Lei L; Zhang, Michael Q MQ; Wang, Xiaowo X

Publication Date: 2018-06-24

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 29936497

Variant Present in the following documents:

• aging-10-101485-s002.xlsx, sheet 10

View BVdb publication page

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A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Blood Cancer Journal

White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH

Publication Date: 2018-03-21

Variant appearance in text: VCAN: G428D

PubMed Link: 29563506

Variant Present in the following documents:

• 41408_2018_62_MOESM1_ESM.xls, sheet 8

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: VCAN: G428D; rs2287926

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans.

Yonsei Medical Journal

Hong, Eun Pyo EP; Jeon, Jin Pyeong JP; Kim, Sung Eun SE; Yang, Jin Seo JS; Choi, Hyuk Jai HJ; Kang, Suk Hyung SH; Cho, Yong Jun YJ

Publication Date: 2017-09

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 28792146

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Nature Communications

Zillikens, M Carola MC; Demissie, Serkalem S; Hsu, Yi-Hsiang YH; Yerges-Armstrong, Laura M LM; Chou, Wen-Chi WC; Stolk, Lisette L; Livshits, Gregory G; Broer, Linda L; Johnson, Toby T; Koller, Daniel L DL; Kutalik, Zoltán Z; Luan, Jian'an J; Malkin, Ida I; Ried, Janina S JS; Smith, Albert V AV; Thorleifsson, Gudmar G; Vandenput, Liesbeth L; Hua Zhao, Jing J; Zhang, Weihua W; Aghdassi, Ali A; Åkesson, Kristina K; Amin, Najaf N; Baier, Leslie J LJ; Barroso, Inês I; Bennett, David A DA; Bertram, Lars L; Biffar, Rainer R; Bochud, Murielle M; Boehnke, Michael M; Borecki, Ingrid B IB; Buchman, Aron S AS; Byberg, Liisa L; Campbell, Harry H; Campos Obanda, Natalia N; Cauley, Jane A JA; Cawthon, Peggy M PM; Cederberg, Henna H; Chen, Zhao Z; Cho, Nam H NH; Jin Choi, Hyung H; Claussnitzer, Melina M; Collins, Francis F; Cummings, Steven R SR; De Jager, Philip L PL; Demuth, Ilja I; Dhonukshe-Rutten, Rosalie A M RAM; Diatchenko, Luda L; Eiriksdottir, Gudny G; Enneman, Anke W AW; Erdos, Mike M; Eriksson, Johan G JG; Eriksson, Joel J; Estrada, Karol K; Evans, Daniel S DS; Feitosa, Mary F MF; Fu, Mao M; Garcia, Melissa M; Gieger, Christian C; Girke, Thomas T; Glazer, Nicole L NL; Grallert, Harald H; Grewal, Jagvir J; Han, Bok-Ghee BG; Hanson, Robert L RL; Hayward, Caroline C; Hofman, Albert A; Hoffman, Eric P EP; Homuth, Georg G; Hsueh, Wen-Chi WC; Hubal, Monica J MJ; Hubbard, Alan A; Huffman, Kim M KM; Husted, Lise B LB; Illig, Thomas T; Ingelsson, Erik E; Ittermann, Till T; Jansson, John-Olov JO; Jordan, Joanne M JM; Jula, Antti A; Karlsson, Magnus M; Khaw, Kay-Tee KT; Kilpeläinen, Tuomas O TO; Klopp, Norman N; Kloth, Jacqueline S L JSL; Koistinen, Heikki A HA; Kraus, William E WE; Kritchevsky, Stephen S; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Laakso, Markku M; Lahti, Jari J; Lang, Thomas T; Langdahl, Bente L BL; Launer, Lenore J LJ; Lee, Jong-Young JY; Lerch, Markus M MM; Lewis, Joshua R JR; Lind, Lars L; Lindgren, Cecilia C; Liu, Yongmei Y; Liu, Tian T; Liu, Youfang Y; Ljunggren, Östen Ö; Lorentzon, Mattias M; Luben, Robert N RN; Maixner, William W; McGuigan, Fiona E FE; Medina-Gomez, Carolina C; Meitinger, Thomas T; Melhus, Håkan H; Mellström, Dan D; Melov, Simon S; Michaëlsson, Karl K; Mitchell, Braxton D BD; Morris, Andrew P AP; Mosekilde, Leif L; Newman, Anne A; Nielson, Carrie M CM; O'Connell, Jeffrey R JR; Oostra, Ben A BA; Orwoll, Eric S ES; Palotie, Aarno A; Parker, Stephen C J SCJ; Peacock, Munro M; Perola, Markus M; Peters, Annette A; Polasek, Ozren O; Prince, Richard L RL; Räikkönen, Katri K; Ralston, Stuart H SH; Ripatti, Samuli S; Robbins, John A JA; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Satterfield, Suzanne S; Schadt, Eric E EE; Schipf, Sabine S; Scott, Laura L; Sehmi, Joban J; Shen, Jian J; Soo Shin, Chan C; Sigurdsson, Gunnar G; Smith, Shad S; Soranzo, Nicole N; Stančáková, Alena A; Steinhagen-Thiessen, Elisabeth E; Streeten, Elizabeth A EA; Styrkarsdottir, Unnur U; Swart, Karin M A KMA; Tan, Sian-Tsung ST; Tarnopolsky, Mark A MA; Thompson, Patricia P; Thomson, Cynthia A CA; Thorsteinsdottir, Unnur U; Tikkanen, Emmi E; Tranah, Gregory J GJ; Tuomilehto, Jaakko J; van Schoor, Natasja M NM; Verma, Arjun A; Vollenweider, Peter P; Völzke, Henry H; Wactawski-Wende, Jean J; Walker, Mark M; Weedon, Michael N MN; Welch, Ryan R; Wichmann, H-Erich HE; Widen, Elisabeth E; Williams, Frances M K FMK; Wilson, James F JF; Wright, Nicole C NC; Xie, Weijia W; Yu, Lei L; Zhou, Yanhua Y; Chambers, John C JC; Döring, Angela A; van Duijn, Cornelia M CM; Econs, Michael J MJ; Gudnason, Vilmundur V; Kooner, Jaspal S JS; Psaty, Bruce M BM; Spector, Timothy D TD; Stefansson, Kari K; Rivadeneira, Fernando F; Uitterlinden, André G AG; Wareham, Nicholas J NJ; Ossowski, Vicky V; Waterworth, Dawn D; Loos, Ruth J F RJF; Karasik, David D; Harris, Tamara B TB; Ohlsson, Claes C; Kiel, Douglas P DP

Publication Date: 2017-07-19

Variant appearance in text: rs2287926

PubMed Link: 28724990

Variant Present in the following documents:

• Main text
• 41467_2017_Article_31.pdf
• 41467_2017_31_MOESM1_ESM.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: rs2287926

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative Ophthalmology & Visual Science

Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A

Publication Date: 2016-11-01

Variant appearance in text: VCAN: G428D

PubMed Link: 27898983

Variant Present in the following documents:

• iovs-57-14-17_s03.xlsx, sheet 1

View BVdb publication page

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Aneurysmal Subarachnoid Hemorrhage and Neuroinflammation: A Comprehensive Review.

International Journal Of Molecular Sciences

Lucke-Wold, Brandon P BP; Logsdon, Aric F AF; Manoranjan, Branavan B; Turner, Ryan C RC; McConnell, Evan E; Vates, George Edward GE; Huber, Jason D JD; Rosen, Charles L CL; Simard, J Marc JM

Publication Date: 2016-04-02

Variant appearance in text: VCAN: g428d; rs2287926

PubMed Link: 27049383

Variant Present in the following documents:

• ijms-17-00497.pdf

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: rs2287926

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: VCAN: 1283G>A; G428D; rs2287926

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 2

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: rs2287926

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Association of Versican (VCAN) gene polymorphisms rs251124 and rs2287926 (G428D), with intracranial aneurysm.

Meta Gene

Sathyan, Sanish S; Koshy, Linda V LV; Balan, Shabeesh S; Easwer, H V HV; Premkumar, S S; Nair, Suresh S; Bhattacharya, R N RN; Alapatt, Jacob P JP; Banerjee, Moinak M

Publication Date: 2014-12

Variant appearance in text: rs2287926

PubMed Link: 25606449

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: VCAN: G428D

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, 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: VCAN: G428D; rs2287926

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: VCAN: G428D; rs2287926

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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