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: BMPR2: S775N

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

Frontiers In Oncology

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

Publication Date: 2022

Variant appearance in text: rs2228545

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.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: BMPR2: S775N; rs2228545

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Ebiomedicine

Visioli, Alberto A; Giani, Fabrizio F; Trivieri, Nadia N; Pracella, Riccardo R; Miccinilli, Elide E; Cariglia, Maria Grazia MG; Palumbo, Orazio O; Arleo, Andrea A; Dezi, Fabio F; Copetti, Massimiliano M; Cajola, Laura L; Restelli, Silvia S; Papa, Valerio V; Sciuto, Antonio A; Latiano, Tiziana Pia TP; Carella, Massimo M; Amadori, Dino D; Gallerani, Giulia G; Ricci, Riccardo R; Alfieri, Sergio S; Pesole, Graziano G; Vescovi, Angelo L AL; Binda, Elena E

Publication Date: 2019-06

Variant appearance in text: BMPR2: 2324G>A; S775N

PubMed Link: 31056474

Variant Present in the following documents:

• mmc1.xls, sheet 1
• mmc3.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: BMPR2: 2324G>A; Ser775Asn

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: BMPR2: S775N; rs2228545

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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CBLN2 rs2217560 was Associated with Pulmonary Arterial Hypertension in Systemic Lupus Erythematosus.

Chinese Medical Journal

Huang, Can C; Yang, Jun J; Li, Meng-Tao MT; Wang, Qian Q; Zhao, Jiu-Liang JL; Yang, Xiao-Xi XX; Tian, Zhuang Z; Liu, Yong-Tai YT; Guo, Xiao-Xiao XX; Wang, Hui H; Lai, Jin-Zhi JZ; Xing, Yan-Jiang YJ; Zeng, Xiao-Feng XF

Publication Date: 2018-12-20

Variant appearance in text: rs2228545

PubMed Link: 30539924

Variant Present in the following documents:

• CMJ-131-3020.pdf

View BVdb publication page

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Establishment and characterization of new tumor xenografts and cancer cell lines from EBV-positive nasopharyngeal carcinoma.

Nature Communications

Lin, Weitao W; Yip, Yim Ling YL; Jia, Lin L; Deng, Wen W; Zheng, Hong H; Dai, Wei W; Ko, Josephine Mun Yee JMY; Lo, Kwok Wai KW; Chung, Grace Tin Yun GTY; Yip, Kevin Y KY; Lee, Sau-Dan SD; Kwan, Johnny Sheung-Him JS; Zhang, Jun J; Liu, Tengfei T; Chan, Jimmy Yu-Wai JY; Kwong, Dora Lai-Wan DL; Lee, Victor Ho-Fun VH; Nicholls, John Malcolm JM; Busson, Pierre P; Liu, Xuefeng X; Chiang, Alan Kwok Shing AKS; Hui, Kwai Fung KF; Kwok, Hin H; Cheung, Siu Tim ST; Cheung, Yuk Chun YC; Chan, Chi Keung CK; Li, Bin B; Cheung, Annie Lai-Man AL; Hau, Pok Man PM; Zhou, Yuan Y; Tsang, Chi Man CM; Middeldorp, Jaap J; Chen, Honglin H; Lung, Maria Li ML; Tsao, Sai Wah SW

Publication Date: 2018-11-07

Variant appearance in text: BMPR2: 2324G>A; Ser775Asn; rs2228545

PubMed Link: 30405107

Variant Present in the following documents:

• 41467_2018_6889_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Plos One

Skarp, Sini S; Kämäräinen, Olli-Pekka OP; Wei, Gong-Hong GH; Jakkula, Eveliina E; Kiviranta, Ilkka I; Kröger, Heikki H; Auvinen, Juha J; Lehenkari, Petri P; Ala-Kokko, Leena L; Männikkö, Minna M

Publication Date: 2018

Variant appearance in text: BMPR2: S775N; rs2228545

PubMed Link: 30157244

Variant Present in the following documents:

• pone.0203313.s001.xlsx, sheet 1

View BVdb publication page

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Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics

Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I

Publication Date: 2018-05-30

Variant appearance in text: BMPR2: Ser775Asn; rs2228545

PubMed Link: 29843651

Variant Present in the following documents:

• 12881_2018_608_MOESM1_ESM.pdf

View BVdb publication page

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Multiple Gene-Environment Interactions on the Angiogenesis Gene-Pathway Impact Rectal Cancer Risk and Survival.

International Journal Of Environmental Research And Public Health

Sharafeldin, Noha N; Slattery, Martha L ML; Liu, Qi Q; Franco-Villalobos, Conrado C; Caan, Bette J BJ; Potter, John D JD; Yasui, Yutaka Y

Publication Date: 2017-09-28

Variant appearance in text: rs2228545

PubMed Link: 28956832

Variant Present in the following documents:

• ijerph-14-01146-s001.pdf

View BVdb publication page

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A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics

Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V

Publication Date: 2017-08-02

Variant appearance in text: BMPR2: 2324G>A; Ser775Asn

PubMed Link: 28768485

Variant Present in the following documents:

• 12881_2017_440_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BMPR2: 2324G>A; Ser775Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

Scientific Reports

Pousada, Guillermo G; Lupo, Vincenzo V; Cástro-Sánchez, Sheila S; Álvarez-Satta, María M; Sánchez-Monteagudo, Ana A; Baloira, Adolfo A; Espinós, Carmen C; Valverde, Diana D

Publication Date: 2017-05-15

Variant appearance in text: BMPR2: 2324G>A

PubMed Link: 28507310

Variant Present in the following documents:

• Main text
• 41598_2017_Article_2074.pdf

View BVdb publication page

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Reduced carboxylesterase 1 is associated with endothelial injury in methamphetamine-induced pulmonary arterial hypertension.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Orcholski, Mark E ME; Khurshudyan, Artyom A; Shamskhou, Elya A EA; Yuan, Ke K; Chen, Ian Y IY; Kodani, Sean D SD; Morisseau, Christophe C; Hammock, Bruce D BD; Hong, Ellen M EM; Alexandrova, Ludmila L; Alastalo, Tero-Pekka TP; Berry, Gerald G; Zamanian, Roham T RT; de Jesus Perez, Vinicio A VA

Publication Date: 2017-08-01

Variant appearance in text: rs2228545

PubMed Link: 28473326

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: BMPR2: S775N; rs2228545

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Genetic variants in the TGFβ-signaling pathway influence expression of miRNAs in colon and rectal normal mucosa and tumor tissue.

Oncotarget

Slattery, Martha L ML; Trivellas, Andromahi A; Pellatt, Andrew J AJ; Mullany, Lila E LE; Stevens, John R JR; Wolff, Roger K RK; Herrick, Jennifer S JS

Publication Date: 2017-03-07

Variant appearance in text: rs2228545

PubMed Link: 28061442

Variant Present in the following documents:

• Main text
• oncotarget-08-16765.pdf

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: BMPR2: S775N; rs2228545

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: PPH1: S775N; rs2228545

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: BMPR2: S775N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, 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: BMPR2: S775N; rs2228545

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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A pathway approach to evaluating the association between the CHIEF pathway and risk of colorectal cancer.

Carcinogenesis

Slattery, Martha L ML; Wolff, Roger K RK; Lundgreen, Abbie A

Publication Date: 2015-01

Variant appearance in text: rs2228545

PubMed Link: 25330801

Variant Present in the following documents:

• Main text

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

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

Publication Date: 2014

Variant appearance in text: BMPR2: S775N; rs2228545

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

Plos One

Pousada, Guillermo G; Baloira, Adolfo A; Vilariño, Carlos C; Cifrian, Jose Manuel JM; Valverde, Diana D

Publication Date: 2014

Variant appearance in text: BMPR2: 2324G>A; S775N

PubMed Link: 24936649

Variant Present in the following documents:

• Main text
• pone.0100261.pdf

View BVdb publication page

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Association study of genes related to bone formation and resorption and the extent of radiographic change in ankylosing spondylitis.

Annals Of The Rheumatic Diseases

Cortes, A A; Maksymowych, W P WP; Wordsworth, B P BP; Inman, R D RD; Danoy, P P; Rahman, P P; Stone, M A MA; Corr, M M; Gensler, Lianne S LS; Gladman, D D; Morgan, A A; Marzo-Ortega, H H; Ward, M M MM; , ; , ; Learch, T J TJ; Reveille, J D JD; Brown, M A MA; Weisman, M H MH

Publication Date: 2015-07

Variant appearance in text: rs2228545

PubMed Link: 24651623

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn.

Pediatric Research

Byers, Heather M HM; Dagle, John M JM; Klein, Jonathan M JM; Ryckman, Kelli K KK; McDonald, Erin L EL; Murray, Jeffrey C JC; Borowski, Kristi S KS

Publication Date: 2012-02

Variant appearance in text: rs2228545

PubMed Link: 22258127

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.

Journal Of Inherited Metabolic Disease

Lo, Sarah Michelman SM; Liu, Jun J; Chen, F F; Pastores, G M GM; Knowles, J J; Boxer, M M; Aleck, Kirk K; Mistry, Pramod K PK

Publication Date: 2011-06

Variant appearance in text: BMPR2: S775N

PubMed Link: 21445609

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in bone morphogenetic protein and colon and rectal cancer.

International Journal Of Cancer

Slattery, Martha L ML; Lundgreen, Abbie A; Herrick, Jennifer S JS; Kadlubar, Susan S; Caan, Bette J BJ; Potter, John D JD; Wolff, Roger K RK

Publication Date: 2012-02-01

Variant appearance in text: rs2228545

PubMed Link: 21387313

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity.

Plos One

Schleinitz, Dorit D; Klöting, Nora N; Böttcher, Yvonne Y; Wolf, Sara S; Dietrich, Kerstin K; Tönjes, Anke A; Breitfeld, Jana J; Enigk, Beate B; Halbritter, Jan J; Körner, Antje A; Schön, Michael R MR; Jenkner, Jost J; Tseng, Yu-Hua YH; Lohmann, Tobias T; Dressler, Miriam M; Stumvoll, Michael M; Blüher, Matthias M; Kovacs, Peter P

Publication Date: 2011-02-02

Variant appearance in text: rs2228545

PubMed Link: 21311592

Variant Present in the following documents:

• Main text
• pone.0016155.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: BMPR2: S775N; rs2228545

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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Eisenmenger syndrome and atrial septal defect: nature or nurture?

The Canadian Journal Of Cardiology

Therrien, Judith J; Rambihar, Sherryn S; Newman, Bill B; Siminovitch, Kathy K; Langleben, David D; Webb, Gary G; Granton, John J

Publication Date: 2006-11

Variant appearance in text: BMPR2: S775N

PubMed Link: 17102831

Variant Present in the following documents:

• Main text

View BVdb publication page

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