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: GSDMA: V128L

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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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: GSDMA: V128L; rs7212938

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Exome variants associated with asthma and allergy.

Scientific Reports

Wjst, Matthias M

Publication Date: 2022-12-05

Variant appearance in text: GSDMA: 382G>T

PubMed Link: 36470944

Variant Present in the following documents:

• 41598_2022_24960_MOESM1_ESM.pdf

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: GSDMA: V128L; rs7212938

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: GSDMA: V128L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_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: GSDMA: V128L; rs7212938

PubMed Link: 36075891

Variant Present in the following documents:

• 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: GSDMA: V128L; rs7212938

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Modulation of Autoimmune and Autoinflammatory Diseases by Gasdermins.

Frontiers In Immunology

Liang, Fang F; Qin, Weixiao W; Zeng, Yilan Y; Wang, Dan D

Publication Date: 2022

Variant appearance in text: rs7212938

PubMed Link: 35720396

Variant Present in the following documents:

• Main text
• fimmu-13-841729.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: GSDMA: V128L

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: GSDMA: V128L

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 4
• Table_1.xls, sheet 1
• Table_2.xlsx, sheet 1
• Table_1.xls, sheet 5

View BVdb publication page

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The Versatile Gasdermin Family: Their Function and Roles in Diseases.

Frontiers In Immunology

Zou, Ju J; Zheng, Yixiang Y; Huang, Yan Y; Tang, Daolin D; Kang, Rui R; Chen, Ruochan R

Publication Date: 2021

Variant appearance in text: rs7212938

PubMed Link: 34858408

Variant Present in the following documents:

• Main text
• fimmu-12-751533.pdf

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: GSDMA: V128L; rs7212938

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• 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: GSDMA: V128L; rs7212938

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

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: GSDMA: Val128Leu; rs7212938

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: GSDMA: 382G>T; V128L; rs7212938

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases

Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY

Publication Date: 2020-12

Variant appearance in text: GSDMA: V128L; rs7212938

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.xlsx, sheet 1

View BVdb publication page

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Genomics of asthma, allergy and chronic rhinosinusitis: novel concepts and relevance in airway mucosa.

Clinical And Translational Allergy

Laulajainen-Hongisto, Anu A; Lyly, Annina A; Hanif, Tanzeela T; Dhaygude, Kishor K; Kankainen, Matti M; Renkonen, Risto R; Donner, Kati K; Mattila, Pirkko P; Jartti, Tuomas T; Bousquet, Jean J; Kauppi, Paula P; Toppila-Salmi, Sanna S

Publication Date: 2020

Variant appearance in text: rs7212938

PubMed Link: 33133517

Variant Present in the following documents:

• Main text
• CLT2-10-45.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: GSDMA: V128L; rs7212938

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Gasdermin family: a promising therapeutic target for cancers and inflammation-driven diseases.

Journal Of Cell Communication And Signaling

Wu, Danbin D; Chen, Yefei Y; Sun, Yingxin Y; Gao, Qing Q; Yu, Bin B; Jiang, Xijuan X; Guo, Maojuan M

Publication Date: 2020-09

Variant appearance in text: rs7212938

PubMed Link: 32236886

Variant Present in the following documents:

• Main text

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: GSDMA: V128L

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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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: GSDMA: V128L; rs7212938

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.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: GSDMA: V128L; rs7212938

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

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: GSDMA: 382G>T; rs7212938

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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An association analysis to identify genetic variants linked to asthma and rhino-conjunctivitis in a cohort of Sicilian children.

Italian Journal Of Pediatrics

Sottile, Gianluca G; Ferrante, Giuliana G; Torregrossa, Marta M; Cibella, Fabio F; Cilluffo, Giovanna G; Fasola, Salvatore S; Alessandro, Riccardo R; Seidita, Gregorio G; Viegi, Giovanni G; La Grutta, Stefania S

Publication Date: 2019-01-15

Variant appearance in text: rs7212938

PubMed Link: 30646946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: GSDMA: 382G>T; Val128Leu

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 18
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 22
• pone.0210079.s007.xlsx, sheet 20

View BVdb publication page

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Identification of deleterious and regulatory genomic variations in known asthma loci.

Respiratory Research

Neville, Matthew D C MDC; Choi, Jihoon J; Lieberman, Jonathan J; Duan, Qing Ling QL

Publication Date: 2018-12-12

Variant appearance in text: rs7212938

PubMed Link: 30541564

Variant Present in the following documents:

• Main text
• 12931_2018_Article_953.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: GSDMA: V128L; rs7212938

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: GSDMA: 382G>T; Val128Leu; rs7212938

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications

Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA

Publication Date: 2018-09

Variant appearance in text: GSDMA: V128L; rs7212938

PubMed Link: 30202817

Variant Present in the following documents:

• HEP4-2-1021-s001.xlsx, sheet 1

View BVdb publication page

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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Nature Communications

Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M

Publication Date: 2018-06-21

Variant appearance in text: GSDMA: Val128Leu; rs7212938

PubMed Link: 29930244

Variant Present in the following documents:

• 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Impact of atopy on risk of glioma: a Mendelian randomisation study.

Bmc Medicine

Disney-Hogg, Linden L; Cornish, Alex J AJ; Sud, Amit A; Law, Philip J PJ; Kinnersley, Ben B; Jacobs, Daniel I DI; Ostrom, Quinn T QT; Labreche, Karim K; Eckel-Passow, Jeanette E JE; Armstrong, Georgina N GN; Claus, Elizabeth B EB; Il'yasova, Dora D; Schildkraut, Joellen J; Barnholtz-Sloan, Jill S JS; Olson, Sara H SH; Bernstein, Jonine L JL; Lai, Rose K RK; Schoemaker, Minouk J MJ; Simon, Matthias M; Hoffmann, Per P; Nöthen, Markus M MM; Jöckel, Karl-Heinz KH; Chanock, Stephen S; Rajaraman, Preetha P; Johansen, Christoffer C; Jenkins, Robert B RB; Melin, Beatrice S BS; Wrensch, Margaret R MR; Sanson, Marc M; Bondy, Melissa L ML; Houlston, Richard S RS

Publication Date: 2018-03-15

Variant appearance in text: rs7212938

PubMed Link: 29540232

Variant Present in the following documents:

• Main text
• 12916_2018_Article_1027.pdf

View BVdb publication page

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A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis.

The Journal Of Allergy And Clinical Immunology

Panganiban, Ronald A RA; Sun, Maoyun M; Dahlin, Amber A; Park, Hae-Ryung HR; Kan, Mengyuan M; Himes, Blanca E BE; Mitchel, Jennifer A JA; Iribarren, Carlos C; Jorgenson, Eric E; Randell, Scott H SH; Israel, Elliot E; Tantisira, Kelan K; Shore, Stephanie S; Park, Jin-Ah JA; Weiss, Scott T ST; Wu, Ann Chen AC; Lu, Quan Q

Publication Date: 2018-11

Variant appearance in text: GSDMA: V128L; rs7212938

PubMed Link: 29330013

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Nature Genetics

Ferreira, Manuel A MA; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; van Dongen, Jenny J; Lu, Yi Y; Rüschendorf, Franz F; Esparza-Gordillo, Jorge J; Medway, Chris W CW; Mountjoy, Edward E; Burrows, Kimberley K; Hummel, Oliver O; Grosche, Sarah S; Brumpton, Ben M BM; Witte, John S JS; Hottenga, Jouke-Jan JJ; Willemsen, Gonneke G; Zheng, Jie J; Rodríguez, Elke E; Hotze, Melanie M; Franke, Andre A; Revez, Joana A JA; Beesley, Jonathan J; Matheson, Melanie C MC; Dharmage, Shyamali C SC; Bain, Lisa M LM; Fritsche, Lars G LG; Gabrielsen, Maiken E ME; Balliu, Brunilda B; , ; , ; , ; , ; Nielsen, Jonas B JB; Zhou, Wei W; Hveem, Kristian K; Langhammer, Arnulf A; Holmen, Oddgeir L OL; Løset, Mari M; Abecasis, Gonçalo R GR; Willer, Cristen J CJ; Arnold, Andreas A; Homuth, Georg G; Schmidt, Carsten O CO; Thompson, Philip J PJ; Martin, Nicholas G NG; Duffy, David L DL; Novak, Natalija N; Schulz, Holger H; Karrasch, Stefan S; Gieger, Christian C; Strauch, Konstantin K; Melles, Ronald B RB; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik K E PKE; Jansen, Rick R; Jorgenson, Eric E; Lee, Young-Ae YA; Boomsma, Dorret I DI; Almqvist, Catarina C; Karlsson, Robert R; Koppelman, Gerard H GH; Paternoster, Lavinia L

Publication Date: 2017-12

Variant appearance in text: rs7212938

PubMed Link: 29083406

Variant Present in the following documents:

• NIHMS74439-supplement-Supplementary_note.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: rs7212938

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Network-assisted analysis of GWAS data identifies a functionally-relevant gene module for childhood-onset asthma.

Scientific Reports

Liu, Y Y; Brossard, M M; Sarnowski, C C; Vaysse, A A; Moffatt, M M; Margaritte-Jeannin, P P; Llinares-López, F F; Dizier, M H MH; Lathrop, M M; Cookson, W W; Bouzigon, E E; Demenais, F F

Publication Date: 2017-04-20

Variant appearance in text: rs7212938

PubMed Link: 28428554

Variant Present in the following documents:

• 41598_2017_1058_MOESM1_ESM.pdf

View BVdb publication page

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Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.

Plos One

Parker, Glendon J GJ; Leppert, Tami T; Anex, Deon S DS; Hilmer, Jonathan K JK; Matsunami, Nori N; Baird, Lisa L; Stevens, Jeffery J; Parsawar, Krishna K; Durbin-Johnson, Blythe P BP; Rocke, David M DM; Nelson, Chad C; Fairbanks, Daniel J DJ; Wilson, Andrew S AS; Rice, Robert H RH; Woodward, Scott R SR; Bothner, Brian B; Hart, Bradley R BR; Leppert, Mark M

Publication Date: 2016

Variant appearance in text: GSDMA: V128L; rs7212938

PubMed Link: 27603779

Variant Present in the following documents:

• pone.0160653.s004.pdf

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: GSDMA: V128L

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.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: rs7212938

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: GSDMA: V128L; rs7212938

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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Meta-analysis identifies seven susceptibility loci involved in the atopic march.

Nature Communications

Marenholz, Ingo I; Esparza-Gordillo, Jorge J; Rüschendorf, Franz F; Bauerfeind, Anja A; Strachan, David P DP; Spycher, Ben D BD; Baurecht, Hansjörg H; Margaritte-Jeannin, Patricia P; Sääf, Annika A; Kerkhof, Marjan M; Ege, Markus M; Baltic, Svetlana S; Matheson, Melanie C MC; Li, Jin J; Michel, Sven S; Ang, Wei Q WQ; McArdle, Wendy W; Arnold, Andreas A; Homuth, Georg G; Demenais, Florence F; Bouzigon, Emmanuelle E; Söderhäll, Cilla C; Pershagen, Göran G; de Jongste, Johan C JC; Postma, Dirkje S DS; Braun-Fahrländer, Charlotte C; Horak, Elisabeth E; Ogorodova, Ludmila M LM; Puzyrev, Valery P VP; Bragina, Elena Yu EY; Hudson, Thomas J TJ; Morin, Charles C; Duffy, David L DL; Marks, Guy B GB; Robertson, Colin F CF; Montgomery, Grant W GW; Musk, Bill B; Thompson, Philip J PJ; Martin, Nicholas G NG; James, Alan A; Sleiman, Patrick P; Toskala, Elina E; Rodriguez, Elke E; Fölster-Holst, Regina R; Franke, Andre A; Lieb, Wolfgang W; Gieger, Christian C; Heinzmann, Andrea A; Rietschel, Ernst E; Keil, Thomas T; Cichon, Sven S; Nöthen, Markus M MM; Pennell, Craig E CE; Sly, Peter D PD; Schmidt, Carsten O CO; Matanovic, Anja A; Schneider, Valentin V; Heinig, Matthias M; Hübner, Norbert N; Holt, Patrick G PG; Lau, Susanne S; Kabesch, Michael M; Weidinger, Stefan S; Hakonarson, Hakon H; Ferreira, Manuel A R MAR; Laprise, Catherine C; Freidin, Maxim B MB; Genuneit, Jon J; Koppelman, Gerard H GH; Melén, Erik E; Dizier, Marie-Hélène MH; Henderson, A John AJ; Lee, Young Ae YA

Publication Date: 2015-11-06

Variant appearance in text: rs7212938

PubMed Link: 26542096

Variant Present in the following documents:

• ncomms9804-s1.pdf

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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: GSDMA: V128L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: GSDMA: V128L; rs7212938

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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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: GSDMA: V128L; rs7212938

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

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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: GSDMA: V128L

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

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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: GSDMA: V128L; rs7212938

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: GSDMA: Val128Leu

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3

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Predicting phenotypes of asthma and eczema with machine learning.

Bmc Medical Genomics

Prosperi, Mattia Cf MC; Marinho, Susana S; Simpson, Angela A; Custovic, Adnan A; Buchan, Iain E IE

Publication Date: 2014

Variant appearance in text: rs7212938

PubMed Link: 25077568

Variant Present in the following documents:

• Main text
• 1755-8794-7-S1-S7.pdf

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: GSDMA: V128L

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

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Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.

The Journal Of Allergy And Clinical Immunology

Ferreira, Manuel A R MA; Matheson, Melanie C MC; Tang, Clara S CS; Granell, Raquel R; Ang, Wei W; Hui, Jennie J; Kiefer, Amy K AK; Duffy, David L DL; Baltic, Svetlana S; Danoy, Patrick P; Bui, Minh M; Price, Loren L; Sly, Peter D PD; Eriksson, Nicholas N; Madden, Pamela A PA; Abramson, Michael J MJ; Holt, Patrick G PG; Heath, Andrew C AC; Hunter, Michael M; Musk, Bill B; Robertson, Colin F CF; Le Souëf, Peter P; Montgomery, Grant W GW; Henderson, A John AJ; Tung, Joyce Y JY; Dharmage, Shyamali C SC; Brown, Matthew A MA; James, Alan A; Thompson, Philip J PJ; Pennell, Craig C; Martin, Nicholas G NG; Evans, David M DM; Hinds, David A DA; Hopper, John L JL; ,

Publication Date: 2014-06

Variant appearance in text: rs7212938

PubMed Link: 24388013

Variant Present in the following documents:

• Main text

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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: GSDMA: V128L; rs7212938

PubMed Link: 24219164

Variant Present in the following documents:

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

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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: rs7212938

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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Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

Nature Genetics

Torgerson, Dara G DG; Ampleford, Elizabeth J EJ; Chiu, Grace Y GY; Gauderman, W James WJ; Gignoux, Christopher R CR; Graves, Penelope E PE; Himes, Blanca E BE; Levin, Albert M AM; Mathias, Rasika A RA; Hancock, Dana B DB; Baurley, James W JW; Eng, Celeste C; Stern, Debra A DA; Celedón, Juan C JC; Rafaels, Nicholas N; Capurso, Daniel D; Conti, David V DV; Roth, Lindsey A LA; Soto-Quiros, Manuel M; Togias, Alkis A; Li, Xingnan X; Myers, Rachel A RA; Romieu, Isabelle I; Van Den Berg, David J DJ; Hu, Donglei D; Hansel, Nadia N NN; Hernandez, Ryan D RD; Israel, Elliott E; Salam, Muhammad T MT; Galanter, Joshua J; Avila, Pedro C PC; Avila, Lydiana L; Rodriquez-Santana, Jose R JR; Chapela, Rocio R; Rodriguez-Cintron, William W; Diette, Gregory B GB; Adkinson, N Franklin NF; Abel, Rebekah A RA; Ross, Kevin D KD; Shi, Min M; Faruque, Mezbah U MU; Dunston, Georgia M GM; Watson, Harold R HR; Mantese, Vito J VJ; Ezurum, Serpil C SC; Liang, Liming L; Ruczinski, Ingo I; Ford, Jean G JG; Huntsman, Scott S; Chung, Kian Fan KF; Vora, Hita H; Li, Xia X; Calhoun, William J WJ; Castro, Mario M; Sienra-Monge, Juan J JJ; del Rio-Navarro, Blanca B; Deichmann, Klaus A KA; Heinzmann, Andrea A; Wenzel, Sally E SE; Busse, William W WW; Gern, James E JE; Lemanske, Robert F RF; Beaty, Terri H TH; Bleecker, Eugene R ER; Raby, Benjamin A BA; Meyers, Deborah A DA; London, Stephanie J SJ; , ; Gilliland, Frank D FD; , ; Burchard, Esteban G EG; , ; Martinez, Fernando D FD; , ; Weiss, Scott T ST; , ; Williams, L Keoki LK; , ; Barnes, Kathleen C KC; , ; Ober, Carole C; Nicolae, Dan L DL

Publication Date: 2011-07-31

Variant appearance in text: rs7212938

PubMed Link: 21804549

Variant Present in the following documents:

• NIHMS304749-supplement-1.pdf

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