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: ELN: G422S

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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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs2071307

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ELN: G422S

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Linking single nucleotide polymorphisms to signaling blueprints in abdominal aortic aneurysms.

Scientific Reports

Lim, Chrysania C; Pratama, Muhammad Yogi MY; Rivera, Cristobal C; Silvestro, Michele M; Tsao, Philip S PS; Maegdefessel, Lars L; Gallagher, Katherine A KA; Maldonado, Thomas T; Ramkhelawon, Bhama B

Publication Date: 2022-12-05

Variant appearance in text: rs2071307

PubMed Link: 36470918

Variant Present in the following documents:

• Main text
• 41598_2022_Article_25144.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: ELN: G422S; rs2071307

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: ELN: G422S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_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: ELN: G422S

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Tendon and Ligament Genetics: How Do They Contribute to Disease and Injury? A Narrative Review.

Life (Basel, Switzerland)

Ribbans, William J WJ; September, Alison V AV; Collins, Malcolm M

Publication Date: 2022-04-29

Variant appearance in text: rs2071307

PubMed Link: 35629331

Variant Present in the following documents:

• Main text
• life-12-00663.pdf

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: ELN: G422S

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy.

International Journal Of Molecular Sciences

Junco-Vicente, Alejandro A; Del Río-García, Álvaro Á; Martín, María M; Rodríguez, Isabel I

Publication Date: 2021-05-27

Variant appearance in text: rs2071307

PubMed Link: 34071740

Variant Present in the following documents:

• Main text
• ijms-22-05694.pdf

View BVdb publication page

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

Bmc Cancer

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

Publication Date: 2021-05-29

Variant appearance in text: ELN: 1264G>A; Gly422Ser; rs2071307

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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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: ELN: 1264G>A; G422S; rs2071307

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.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: ELN: 1264G>A; G422S; rs2071307

PubMed Link: 33420045

Variant Present in the following documents:

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

View BVdb publication page

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The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.

Frontiers In Genetics

Bogari, Neda M NM; Al-Allaf, Faisal A FA; Aljohani, Ashwag A; Taher, Mohiuddin M MM; Qutub, Nermeen A NA; Alhelfawi, Suhair S; Alobaidi, Amal A; Alqudah, Derar M DM; Banni, Hussain H; Dairi, Ghida G; Amin, Amr A AA

Publication Date: 2020

Variant appearance in text: ELN: 1264G>A; Gly422Ser; rs2071307

PubMed Link: 33384710

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Ebiomedicine

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

Publication Date: 2020-12

Variant appearance in text: ELN: 1264G>A; G422S; rs2071307

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.

Human Molecular Genetics

Parrish, Phoebe C R PCR; Liu, Delong D; Knutsen, Russell H RH; Billington, Charles J CJ; Mecham, Robert P RP; Fu, Yi-Ping YP; Kozel, Beth A BA

Publication Date: 2020-07-29

Variant appearance in text: rs2071307

PubMed Link: 32412588

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: ELN: 1264G>A; Gly422Ser; rs2071307

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ELN: G422S; rs2071307

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_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: ELN: 1264G>A; Gly422Ser

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: rs2071307

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.

Journal Of Clinical Medicine

Hong, Eun Pyo EP; Kim, Bong Jun BJ; Cho, Steve S SS; Yang, Jin Seo JS; Choi, Hyuk Jai HJ; Kang, Suk Hyung SH; Jeon, Jin Pyeong JP

Publication Date: 2019-02-25

Variant appearance in text: ELN: Gly422Ser; rs2071307

PubMed Link: 30823506

Variant Present in the following documents:

• Main text
• jcm-08-00275.pdf
• jcm-08-00275-s001.pdf

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: ELN: 1264G>A; rs2071307

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: ELN: G422S; rs2071307

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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

Scientific Reports

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

Publication Date: 2018-11-02

Variant appearance in text: ELN: G422S; rs2071307

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: ELN: 1264G>A; Gly422Ser; rs2071307

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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The effects of the elastin polymorphisms on carotid intima-media thickness in women aged 30 - 70.

Journal Of Exercise Nutrition & Biochemistry

Lim, Seung-Taek ST; Park, Jin-Kee JK; Park, Sang-Hyuk SH; Lee, Eun-Jae EJ; Kim, Woo-Nam WN; Min, Seok-Ki SK

Publication Date: 2018-06-30

Variant appearance in text: rs2071307

PubMed Link: 30149422

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: rs2071307

PubMed Link: 30008175

Variant Present in the following documents:

• Main text
• MGG3-6-749.pdf
• MGG3-6-749-s003.xlsx, sheet 1

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: ELN: 1264G>A; G422S; rs2071307

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial Aneurysm in Koreans.

Neurologia Medico-Chirurgica

Jeon, Jin Pyeong JP; Hong, Eun Pyo EP; Kim, Jeong Eun JE; Ha, Eun Jin EJ; Cho, Won-Sang WS; Son, Young-Je YJ; Bang, Jae Seung JS; Oh, Chang Wan CW

Publication Date: 2018-01-15

Variant appearance in text: ELN: Gly422Ser; rs2071307

PubMed Link: 29129841

Variant Present in the following documents:

• Main text
• nmc-58-17.pdf

View BVdb publication page

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Biomedical Risk Factors of Achilles Tendinopathy in Physically Active People: a Systematic Review.

Sports Medicine - Open

Kozlovskaia, Maria M; Vlahovich, Nicole N; Ashton, Kevin J KJ; Hughes, David C DC

Publication Date: 2017-12

Variant appearance in text: rs2071307

PubMed Link: 28523640

Variant Present in the following documents:

• Main text
• 40798_2017_Article_87.pdf

View BVdb publication page

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Genetic Variants and Anterior Cruciate Ligament Rupture: A Systematic Review.

Sports Medicine (Auckland, N.Z.)

Kaynak, Mustafa M; Nijman, Frank F; van Meurs, Joyce J; Reijman, Max M; Meuffels, Duncan E DE

Publication Date: 2017-08

Variant appearance in text: rs2071307

PubMed Link: 28102489

Variant Present in the following documents:

• Main text
• 40279_2017_Article_678.pdf

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: ELN: G422S; rs2071307

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Tanisawa, Kumpei K; Arai, Yasumichi Y; Hirose, Nobuyoshi N; Shimokata, Hiroshi H; Yamada, Yoshiji Y; Kawai, Hisashi H; Kojima, Motonaga M; Obuchi, Shuichi S; Hirano, Hirohiko H; Yoshida, Hideyo H; Suzuki, Hiroyuki H; Fujiwara, Yoshinori Y; Ihara, Kazushige K; Sugaya, Maki M; Arai, Tomio T; Mori, Seijiro S; Sawabe, Motoji M; Sato, Noriko N; Muramatsu, Masaaki M; Higuchi, Mitsuru M; Liu, Yao-Wen YW; Kong, Qing-Peng QP; Tanaka, Masashi M

Publication Date: 2017-03-01

Variant appearance in text: ELN: G422S; rs2071307

PubMed Link: 27154906

Variant Present in the following documents:

• glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx, sheet 1

View BVdb publication page

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Semantic interrogation of a multi knowledge domain ontological model of tendinopathy identifies four strong candidate risk genes.

Scientific Reports

Saunders, Colleen J CJ; Jalali Sefid Dashti, Mahjoubeh M; Gamieldien, Junaid J

Publication Date: 2016-01-25

Variant appearance in text: rs2071307

PubMed Link: 26804977

Variant Present in the following documents:

• Main text
• srep19820.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: rs2071307

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: ELN: G422S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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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: ELN: G422S; rs2071307

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.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: rs2071307

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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: ELN: G422S

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: ELN: G422S; rs2071307

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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

Nucleic Acids Research

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

Publication Date: 2014-12-16

Variant appearance in text: rs2071307

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10

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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: ELN: Gly422Ser

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3

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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: rs2071307

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

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Using information interaction to discover epistatic effects in complex diseases.

Plos One

Anunciação, Orlando O; Vinga, Susana S; Oliveira, Arlindo L AL

Publication Date: 2013

Variant appearance in text: rs2071307

PubMed Link: 24194833

Variant Present in the following documents:

• Main text
• pone.0076300.pdf

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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: rs2071307

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Candidate gene analysis of arteriovenous fistula failure in hemodialysis patients.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Verschuren, Jeffrey J W JJ; Ocak, Gurbey G; Dekker, Friedo W FW; Rabelink, Ton J TJ; Jukema, J Wouter JW; Rotmans, Joris I JI

Publication Date: 2013-08

Variant appearance in text: rs2071307

PubMed Link: 23559680

Variant Present in the following documents:

• Main text

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Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides.

Plos One

He, David D; Miao, Ming M; Sitarz, Eva E EE; Muiznieks, Lisa D LD; Reichheld, Sean S; Stahl, Richard J RJ; Keeley, Fred W FW; Parkinson, John J

Publication Date: 2012

Variant appearance in text: ELN: G422S; rs2071307

PubMed Link: 23049958

Variant Present in the following documents:

• Main text
• pone.0046130.pdf

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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Orphanet Journal Of Rare Diseases

Morimoto, Marie M; Yu, Zhongxin Z; Stenzel, Peter P; Clewing, J Marietta JM; Najafian, Behzad B; Mayfield, Christy C; Hendson, Glenda G; Weinkauf, Justin G JG; Gormley, Andrew K AK; Parham, David M DM; Ponniah, Umakumaran U; André, Jean-Luc JL; Asakura, Yumi Y; Basiratnia, Mitra M; Bogdanović, Radovan R; Bokenkamp, Arend A; Bonneau, Dominique D; Buck, Anna A; Charrow, Joel J; Cochat, Pierre P; Cordeiro, Isabel I; Deschenes, Georges G; Fenkçi, M Semin MS; Frange, Pierre P; Fründ, Stefan S; Fryssira, Helen H; Guillen-Navarro, Encarna E; Keller, Kory K; Kirmani, Salman S; Kobelka, Christine C; Lamfers, Petra P; Levtchenko, Elena E; Lewis, David B DB; Massella, Laura L; McLeod, D Ross DR; Milford, David V DV; Nobili, François F; Saraiva, Jorge M JM; Semerci, C Nur CN; Shoemaker, Lawrence L; Stajić, Nataša N; Stein, Anja A; Taha, Doris D; Wand, Dorothea D; Zonana, Jonathan J; Lücke, Thomas T; Boerkoel, Cornelius F CF

Publication Date: 2012-09-22

Variant appearance in text: ELN: 1264G>A; rs2071307

PubMed Link: 22998683

Variant Present in the following documents:

• Main text

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Elastin overexpression by cell-based gene therapy preserves matrix and prevents cardiac dilation.

Journal Of Cellular And Molecular Medicine

Li, Shu-Hong SH; Sun, Zhuo Z; Guo, Lily L; Han, Mihan M; Wood, Michael F G MF; Ghosh, Nirmalya N; Vitkin, I Alex IA; Weisel, Richard D RD; Li, Ren-Ke RK

Publication Date: 2012-10

Variant appearance in text: rs2071307

PubMed Link: 22435995

Variant Present in the following documents:

• Main text
• jcmm0016-2429.pdf

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Lack of association of polymorphisms in elastin with pseudoexfoliation syndrome and glaucoma.

Journal Of Glaucoma

Fan, Bao Jian BJ; Figuieredo Sena, Dayse R DR; Pasquale, Louis R LR; Grosskreutz, Cynthia L CL; Rhee, Douglas J DJ; Chen, Teresa C TC; Delbono, Elizabeth A EA; Haines, Jonathan L JL; Wiggs, Janey L JL

Publication Date: 2010-09

Variant appearance in text: rs2071307

PubMed Link: 20051886

Variant Present in the following documents:

• Main text

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Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.

American Journal Of Respiratory Cell And Molecular Biology

Cho, Michael H MH; Ciulla, Dawn M DM; Klanderman, Barbara J BJ; Hersh, Craig P CP; Litonjua, Augusto A AA; Sparrow, David D; Raby, Benjamin A BA; Silverman, Edwin K EK

Publication Date: 2009-06

Variant appearance in text: rs2071307

PubMed Link: 19029017

Variant Present in the following documents:

• Main text

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Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

Bmc Medical Genetics

Kaushal, Ritesh R; Woo, Daniel D; Pal, Prodipto P; Haverbusch, Mary M; Xi, Huifeng H; Moomaw, Charles C; Sekar, Padmini P; Kissela, Brett B; Kleindorfer, Dawn D; Flaherty, Matthew M; Sauerbeck, Laura L; Chakraborty, Ranajit R; Broderick, Joseph J; Deka, Ranjan R

Publication Date: 2007-07-31

Variant appearance in text: rs2071307

PubMed Link: 17672902

Variant Present in the following documents:

• Main text
• 1471-2350-8-49.pdf

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Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11.

American Journal Of Human Genetics

Onda, H H; Kasuya, H H; Yoneyama, T T; Takakura, K K; Hori, T T; Takeda, J J; Nakajima, T T; Inoue, I I

Publication Date: 2001-10

Variant appearance in text: ELN: G422S

PubMed Link: 11536080

Variant Present in the following documents:

• Main text

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