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: ANPEP: S752N

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: ANPEP: S752N; rs25651

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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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: ANPEP: S752N; rs25651

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: ANPEP: S752N

PubMed Link: 36652909

Variant Present in the following documents:

• mmc3.xlsx, sheet 32

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: ANPEP: S752N

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_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: ANPEP: S752N; rs25651

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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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: ANPEP: S752N

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

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: ANPEP: S752N; rs25651

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 9

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: ANPEP: S752N; rs25651

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Genetic Control of Human Infection with SARS-CoV-2.

Russian Journal Of Genetics

Kucher, A N AN; Babushkina, N P NP; Sleptcov, A A AA; Nazarenko, M S MS

Publication Date: 2021

Variant appearance in text: ANPEP: Ser752Asn; rs25651

PubMed Link: 34248311

Variant Present in the following documents:

• Main text
• 11177_2021_Article_1458.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: ANPEP: 2255G>A; S752N; rs25651

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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

Plos One

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

Publication Date: 2021

Variant appearance in text: ANPEP: 2255G>A; S752N; rs25651

PubMed Link: 33770142

Variant Present in the following documents:

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

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: ANPEP: S752N; rs25651

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
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

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

Publication Date: 2020-11-25

Variant appearance in text: ANPEP: S752N

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs25651

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

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

Publication Date: 2020-04-09

Variant appearance in text: ANPEP: S752N

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Nature

Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD

Publication Date: 2019-10

Variant appearance in text: ANPEP: S752N

PubMed Link: 31664194

Variant Present in the following documents:

• NIHMS1539056-supplement-2.xlsx, sheet 5

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: ANPEP: S752N; rs25651

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_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: ANPEP: S752N; rs25651

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

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: rs25651

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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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: ANPEP: S752N; rs25651

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: ANPEP: 2255G>A; Ser752Asn; rs25651

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: ANPEP: S752N; rs25651

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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Identification of genetic variants associated with dengue or West Nile virus disease: a systematic review and meta-analysis.

Bmc Infectious Diseases

Cahill, Megan E ME; Conley, Samantha S; DeWan, Andrew T AT; Montgomery, Ruth R RR

Publication Date: 2018-06-22

Variant appearance in text: rs25651

PubMed Link: 29929468

Variant Present in the following documents:

• Main text
• 12879_2018_Article_3186.pdf

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

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

Publication Date: 2016-06-02

Variant appearance in text: ANPEP: S752N; rs25651

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

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: ANPEP: S752N

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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Frequent variations in cancer-related genes may play prognostic role in treatment of patients with chronic myeloid leukemia.

Bmc Genetics

Lavrov, Alexander V AV; Chelysheva, Ekaterina Y EY; Smirnikhina, Svetlana A SA; Shukhov, Oleg A OA; Turkina, Anna G AG; Adilgereeva, Elmira P EP; Kutsev, Sergey I SI

Publication Date: 2016-01-27

Variant appearance in text: rs25651

PubMed Link: 26822197

Variant Present in the following documents:

• Main text
• 12863_2015_Article_308.pdf

View BVdb publication page

---

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: rs25651

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: ANPEP: S752N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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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: ANPEP: S752N; rs25651

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: ANPEP: S752N; rs25651

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.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: ANPEP: S752N

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: ANPEP: S752N; rs25651

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: ANPEP: S752N; rs25651

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11

View BVdb publication page

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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: ANPEP: S752N

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

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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: ANPEP: S752N

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

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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: ANPEP: S752N; rs25651

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.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: rs25651

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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West Nile Virus: biology, transmission, and human infection.

Clinical Microbiology Reviews

Colpitts, Tonya M TM; Conway, Michael J MJ; Montgomery, Ruth R RR; Fikrig, Erol E

Publication Date: 2012-10

Variant appearance in text: rs25651

PubMed Link: 23034323

Variant Present in the following documents:

• Main text

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A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder.

Plos One

Verbeek, Eva C EC; Bakker, Ingrid M C IM; Bevova, Marianna R MR; Bochdanovits, Zoltán Z; Rizzu, Patrizia P; Sondervan, David D; Willemsen, Gonneke G; de Geus, Eco J EJ; Smit, Johannes H JH; Penninx, Brenda W BW; Boomsma, Dorret I DI; Hoogendijk, Witte J G WJ; Heutink, Peter P

Publication Date: 2012

Variant appearance in text: rs25651

PubMed Link: 22649524

Variant Present in the following documents:

• Main text

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Genetic variants and susceptibility to neurological complications following West Nile virus infection.

The Journal Of Infectious Diseases

Loeb, Mark M; Eskandarian, Sasha S; Rupp, Mark M; Fishman, Neil N; Gasink, Leanne L; Patterson, Jan J; Bramson, Jonathan J; Hudson, Thomas J TJ; Lemire, Mathieu M

Publication Date: 2011-10-01

Variant appearance in text: ANPEP: Ser752Asn; rs25651

PubMed Link: 21881118

Variant Present in the following documents:

• Main text
• jir493.pdf

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Analysis of 17,576 potentially functional SNPs in three case-control studies of myocardial infarction.

Plos One

Shiffman, Dov D; Kane, John P JP; Louie, Judy Z JZ; Arellano, Andre R AR; Ross, David A DA; Catanese, Joseph J JJ; Malloy, Mary J MJ; Ellis, Stephen G SG; Devlin, James J JJ

Publication Date: 2008-08-06

Variant appearance in text: rs25651

PubMed Link: 18682748

Variant Present in the following documents:

• Main text

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