Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TEK: 2545C>T; Arg849Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.

International Journal Of Molecular Sciences

Butnariu, Lăcrămioara Ionela LI; Gorduza, Eusebiu Vlad EV; Florea, Laura L; Țarcă, Elena E; Moisă, Ștefana Maria ȘM; Trandafir, Laura Mihaela LM; Stoleriu, Simona S; Bădescu, Minerva Codruța MC; Luca, Alina-Costina AC; Popa, Setalia S; Radu, Iulian I; Cojocaru, Elena E

Publication Date: 2022-10-13

Variant appearance in text: TEK: R849W

PubMed Link: 36293054

Variant Present in the following documents:

• Main text
• ijms-23-12199.pdf

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Brain-restricted mTOR inhibition with binary pharmacology.

Nature

Zhang, Ziyang Z; Fan, Qiwen Q; Luo, Xujun X; Lou, Kevin K; Weiss, William A WA; Shokat, Kevan M KM

Publication Date: 2022-09

Variant appearance in text: TIE2: R849W

PubMed Link: 36104566

Variant Present in the following documents:

• 41586_2022_5213_MOESM3_ESM.xlsx, sheet 1

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Sirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report.

Sage Open Medical Case Reports

Ma, Jian-Xun JX; Xia, You-Chen YC; Zou, Li-Ping LP; Lin, Heng-Ju HJ; Chang, Xu X; Liu, Li-Ying LY; Toledo, Joy Roechelle A JRA

Publication Date: 2022

Variant appearance in text: TEK: Arg849Trp

PubMed Link: 35573101

Variant Present in the following documents:

• Main text
• 10.1177_2050313X221097755.pdf

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Identification of ACTA2 as a Key Contributor to Venous Malformation.

Frontiers In Cell And Developmental Biology

Wang, Song S; Zhou, Zifu Z; Li, Jing J; Wang, Yu Y; Li, Hongwen H; Lv, Renrong R; Xu, Guangqi G; Zhang, Jian J; Bi, Jianhai J; Huo, Ran R

Publication Date: 2021

Variant appearance in text: TIE2: R849W

PubMed Link: 34858981

Variant Present in the following documents:

• Main text

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Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.

Dermatopathology (Basel, Switzerland)

Colmenero, Isabel I; Knöpfel, Nicole N

Publication Date: 2021-10-15

Variant appearance in text: TIE2: R849W

PubMed Link: 34698142

Variant Present in the following documents:

• Main text

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Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor Molecular Case Studies

Sudduth, Christopher L CL; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Eng, Whitney W; Al-Ibraheemi, Alyaa A; Upton, Joseph J; Greene, Arin K AK

Publication Date: 2021-12

Variant appearance in text: TEK: 2545C>T; Arg849Trp

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

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Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor Molecular Case Studies

Sudduth, Christopher L CL; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Eng, Whitney W; Al-Ibraheemi, Alyaa A; Upton, Joseph J; Greene, Arin K AK

Publication Date: 2021-12

Variant appearance in text: TEK: 2545C>T; Arg849Trp

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

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Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Archives Of Medical Science : Ams

Ustaszewski, Adam A; Janowska-Głowacka, Joanna J; Wołyńska, Katarzyna K; Pietrzak, Anna A; Badura-Stronka, Magdalena M

Publication Date: 2021

Variant appearance in text: TEK: 2545C>T

PubMed Link: 34336026

Variant Present in the following documents:

• Main text
• AMS-17-4-95011.pdf

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Cell Populations Expressing Stemness-Associated Markers in Vascular Anomalies.

Frontiers In Surgery

Kilmister, Ethan J EJ; Hansen, Lauren L; Davis, Paul F PF; Hall, Sean R R SRR; Tan, Swee T ST

Publication Date: 2020

Variant appearance in text: TIE2: R849W

PubMed Link: 33634164

Variant Present in the following documents:

• Main text
• fsurg-07-610758.pdf

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Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Journal Of Clinical Medicine

Paolacci, Stefano S; Mattassi, Raul Ettore RE; Marceddu, Giuseppe G; Manara, Elena E; Zulian, Alessandra A; Guerri, Giulia G; De Antoni, Luca L; Arduino, Carlo C; Cavalca, Daniela D; Bertelli, Matteo M

Publication Date: 2020-10-22

Variant appearance in text: TEK: R849W; rs80338908

PubMed Link: 33105631

Variant Present in the following documents:

• Main text
• jcm-09-03387.pdf

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AKT/FOXO1 axis links cross-talking of endothelial cell and pericyte in TIE2-mutated venous malformations.

Cell Communication And Signaling : Ccs

Si, Yameng Y; Huang, Jiadong J; Li, Xiang X; Fu, Yu Y; Xu, Rongyao R; Du, Yifei Y; Cheng, Jie J; Jiang, Hongbing H

Publication Date: 2020-08-31

Variant appearance in text: TIE2: R849W

PubMed Link: 32867785

Variant Present in the following documents:

• 12964_2020_Article_606.pdf

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A Xenograft Model for Venous Malformation.

Methods In Molecular Biology (Clifton, N.J.)

Goines, Jillian J; Boscolo, Elisa E

Publication Date: 2021

Variant appearance in text: TIE2: R849W

PubMed Link: 32754818

Variant Present in the following documents:

• Main text

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A cell permeant phosphopeptide mimetic of Niban inhibits p38 MAPK and restores endothelial function after injury.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Yim, Tsz Wing TW; Perling, Daniel D; Polcz, Monica M; Komalavilas, Padmini P; Brophy, Colleen C; Cheung-Flynn, Joyce J

Publication Date: 2020-07

Variant appearance in text: TIE2: R849W

PubMed Link: 32396246

Variant Present in the following documents:

• FSB2-34-9180-s009.xls, sheet 1

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Constitutive Active Mutant TIE2 Induces Enlarged Vascular Lumen Formation with Loss of Apico-basal Polarity and Pericyte Recruitment.

Scientific Reports

Cai, Yuqi Y; Schrenk, Sandra S; Goines, Jillian J; Davis, George E GE; Boscolo, Elisa E

Publication Date: 2019-08-26

Variant appearance in text: TIE2: R849W

PubMed Link: 31451744

Variant Present in the following documents:

• Main text
• 41598_2019_Article_48854.pdf

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A Tie2 kinase mutation causing venous malformations increases phosphorylation rates and enhances cooperativity.

Biochemical And Biophysical Research Communications

Kennedy, Madison A MA; Xu, Zeqing Z; Wu, Yunjin Y; Sohl, Christal D CD

Publication Date: 2019-02-19

Variant appearance in text: VMCM: R849W

PubMed Link: 30638931

Variant Present in the following documents:

• Main text

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Transgenic Expression of A Venous Malformation Related Mutation, TIE2-R849W, Significantly Induces Multiple Malformations of Zebrafish.

International Journal Of Medical Sciences

Du, Zhong Z; Ma, Hai-Long HL; Zhang, Zhi-Yuan ZY; Zheng, Jia-Wei JW; Wang, Yan-An YA

Publication Date: 2018

Variant appearance in text: TIE2: R849W

PubMed Link: 29511374

Variant Present in the following documents:

• Main text

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Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report.

Medicine

Wang, Ke-Ling KL; Ma, Shu-Fang SF; Pang, Ling-Yu LY; Zhang, Meng-Na MN; Hu, Lin-Yan LY; Liu, Meng-Jia MJ; Zou, Li-Ping LP

Publication Date: 2018-02

Variant appearance in text: TEK: 2545C>T; Arg849Trp

PubMed Link: 29465551

Variant Present in the following documents:

• Main text

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Context-dependent functions of angiopoietin 2 are determined by the endothelial phosphatase VEPTP.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Souma, Tomokazu T; Thomson, Benjamin R BR; Heinen, Stefan S; Carota, Isabel Anna IA; Yamaguchi, Shinji S; Onay, Tuncer T; Liu, Pan P; Ghosh, Asish K AK; Li, Chengjin C; Eremina, Vera V; Hong, Young-Kwon YK; Economides, Aris N AN; Vestweber, Dietmar D; Peters, Kevin G KG; Jin, Jing J; Quaggin, Susan E SE

Publication Date: 2018-02-06

Variant appearance in text: TIE2: R849W

PubMed Link: 29358379

Variant Present in the following documents:

• Main text
• pnas.201714446.pdf
• pnas.201714446SI.pdf

View BVdb publication page

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Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget

Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P

Publication Date: 2017-12-12

Variant appearance in text: TEK: R849W

PubMed Link: 29312610

Variant Present in the following documents:

• Main text
• oncotarget-08-109319.pdf

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Embryonic Stem Cell-Like Subpopulations in Venous Malformation.

Frontiers In Medicine

Tan, Elysia M S EMS; Siljee, Sam Duro SD; Brasch, Helen D HD; Enriquez, Susana S; Tan, Swee T ST; Itinteang, Tinte T

Publication Date: 2017

Variant appearance in text: TIE2: R849W

PubMed Link: 29046873

Variant Present in the following documents:

• Main text
• fmed-04-00162.pdf

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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: TEK: 2545C>T; Arg849Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Activity of the novel BCR kinase inhibitor IQS019 in preclinical models of B-cell non-Hodgkin lymphoma.

Journal Of Hematology & Oncology

Balsas, P P; Esteve-Arenys, A A; Roldán, J J; Jiménez, L L; Rodríguez, V V; Valero, J G JG; Chamorro-Jorganes, A A; de la Bellacasa, R Puig RP; Teixidó, J J; Matas-Céspedes, A A; Moros, A A; Martínez, A A; Campo, E E; Sáez-Borderías, A A; Borrell, J I JI; Pérez-Galán, P P; Colomer, D D; Roué, G G

Publication Date: 2017-03-31

Variant appearance in text: TIE2: R849W

PubMed Link: 28359287

Variant Present in the following documents:

View BVdb publication page

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Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src and p-Src.

Journal Of Negative Results In Biomedicine

Brahami, Nabila N; Subramaniam, Selvakumar S; Al-Ddafari, Moudjahed Saleh MS; Elkaim, Cecile C; Harmand, Pierre-Olivier PO; Sari, Badr-Eddine BE; Lefranc, Gérard G; Aribi, Mourad M

Publication Date: 2017-03-20

Variant appearance in text: TIE2: R849W

PubMed Link: 28316284

Variant Present in the following documents:

• Main text

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One reporter for in-cell activity profiling of majority of protein kinase oncogenes.

Elife

Gudernova, Iva I; Foldynova-Trantirkova, Silvie S; Ghannamova, Barbora El BE; Fafilek, Bohumil B; Varecha, Miroslav M; Balek, Lukas L; Hruba, Eva E; Jonatova, Lucie L; Jelinkova, Iva I; Kunova Bosakova, Michaela M; Trantirek, Lukas L; Mayer, Jiri J; Krejci, Pavel P

Publication Date: 2017-02-15

Variant appearance in text: TEK: R849W

PubMed Link: 28199182

Variant Present in the following documents:

• elife-21536-supp3.xlsx, sheet 1
• elife-21536-supp3.xlsx, sheet 2

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The pathobiology of vascular malformations: insights from human and model organism genetics.

The Journal Of Pathology

Wetzel-Strong, Sarah E SE; Detter, Matthew R MR; Marchuk, Douglas A DA

Publication Date: 2017-01

Variant appearance in text: TIE2: R849W

PubMed Link: 27859310

Variant Present in the following documents:

• Main text

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Unprecedently Large-Scale Kinase Inhibitor Set Enabling the Accurate Prediction of Compound-Kinase Activities: A Way toward Selective Promiscuity by Design?

Journal Of Chemical Information And Modeling

Christmann-Franck, Serge S; van Westen, Gerard J P GJ; Papadatos, George G; Beltran Escudie, Fanny F; Roberts, Alexander A; Overington, John P JP; Domine, Daniel D

Publication Date: 2016-09-26

Variant appearance in text: TEK: R849W

PubMed Link: 27482722

Variant Present in the following documents:

• ci6b00122_si_004.xlsx, sheet 4

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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: VMCM: R849W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Common and specific effects of TIE2 mutations causing venous malformations.

Human Molecular Genetics

Nätynki, Marjut M; Kangas, Jaakko J; Miinalainen, Ilkka I; Sormunen, Raija R; Pietilä, Riikka R; Soblet, Julie J; Boon, Laurence M LM; Vikkula, Miikka M; Limaye, Nisha N; Eklund, Lauri L

Publication Date: 2015-11-15

Variant appearance in text: TIE2: R849W

PubMed Link: 26319232

Variant Present in the following documents:

• Main text

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Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects.

The Journal Of Clinical Investigation

Boscolo, Elisa E; Limaye, Nisha N; Huang, Lan L; Kang, Kyu-Tae KT; Soblet, Julie J; Uebelhoer, Melanie M; Mendola, Antonella A; Natynki, Marjut M; Seront, Emmanuel E; Dupont, Sophie S; Hammer, Jennifer J; Legrand, Catherine C; Brugnara, Carlo C; Eklund, Lauri L; Vikkula, Miikka M; Bischoff, Joyce J; Boon, Laurence M LM

Publication Date: 2015-09

Variant appearance in text: TIE2: R849W

PubMed Link: 26258417

Variant Present in the following documents:

• Main text

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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: TEK: R849W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Human Molecular Genetics

McDonell, Laura M LM; Kernohan, Kristin D KD; Boycott, Kym M KM; Sawyer, Sarah L SL

Publication Date: 2015-10-15

Variant appearance in text: TEK: R849W

PubMed Link: 26152202

Variant Present in the following documents:

• Main text

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Drug-based modulation of endogenous stem cells promotes functional remyelination in vivo.

Nature

Najm, Fadi J FJ; Madhavan, Mayur M; Zaremba, Anita A; Shick, Elizabeth E; Karl, Robert T RT; Factor, Daniel C DC; Miller, Tyler E TE; Nevin, Zachary S ZS; Kantor, Christopher C; Sargent, Alex A; Quick, Kevin L KL; Schlatzer, Daniela M DM; Tang, Hong H; Papoian, Ruben R; Brimacombe, Kyle R KR; Shen, Min M; Boxer, Matthew B MB; Jadhav, Ajit A; Robinson, Andrew P AP; Podojil, Joseph R JR; Miller, Stephen D SD; Miller, Robert H RH; Tesar, Paul J PJ

Publication Date: 2015-06-11

Variant appearance in text: TIE2: R849W

PubMed Link: 25896324

Variant Present in the following documents:

• NIHMS665856-supplement-supp_table_2.xlsx, sheet 2

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A review of vascular anomalies: genetics and common syndromes.

Seminars In Plastic Surgery

Killion, Elizabeth E; Mohan, Kriti K; Lee, Edward I EI

Publication Date: 2014-05

Variant appearance in text: TIE2: R849W

PubMed Link: 25045331

Variant Present in the following documents:

• Main text

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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: TEK: R849W

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Chaperones as thermodynamic sensors of drug-target interactions reveal kinase inhibitor specificities in living cells.

Nature Biotechnology

Taipale, Mikko M; Krykbaeva, Irina I; Whitesell, Luke L; Santagata, Sandro S; Zhang, Jianming J; Liu, Qingsong Q; Gray, Nathanael S NS; Lindquist, Susan S

Publication Date: 2013-07

Variant appearance in text: TEK: R849W

PubMed Link: 23811600

Variant Present in the following documents:

• NIHMS484224-supplement-2.xlsx, sheet 2

View BVdb publication page

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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Molecular Syndromology

Soblet, J J; Limaye, N N; Uebelhoer, M M; Boon, L M LM; Vikkula, M M

Publication Date: 2013-04

Variant appearance in text: TIE2: 2545C>T

PubMed Link: 23801934

Variant Present in the following documents:

• Main text

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Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.

Human Molecular Genetics

Uebelhoer, Melanie M; Nätynki, Marjut M; Kangas, Jaakko J; Mendola, Antonella A; Nguyen, Ha-Long HL; Soblet, Julie J; Godfraind, Catherine C; Boon, Laurence M LM; Eklund, Lauri L; Limaye, Nisha N; Vikkula, Miikka M

Publication Date: 2013-09-01

Variant appearance in text: TIE2: R849W

PubMed Link: 23633549

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arteriovenous malformations and other vascular malformation syndromes.

Cold Spring Harbor Perspectives In Medicine

Whitehead, Kevin J KJ; Smith, Matthew C P MC; Li, Dean Y DY

Publication Date: 2013-02-01

Variant appearance in text: VMCM: R849W

PubMed Link: 23125071

Variant Present in the following documents:

• Main text

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Vascular anomalies: from genetics toward models for therapeutic trials.

Cold Spring Harbor Perspectives In Medicine

Uebelhoer, Melanie M; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2012-08-01

Variant appearance in text: TIE2: R849W

PubMed Link: 22908197

Variant Present in the following documents:

• Main text

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Pathogenesis of vascular anomalies.

Clinics In Plastic Surgery

Boon, Laurence M LM; Ballieux, Fanny F; Vikkula, Miikka M

Publication Date: 2011-01

Variant appearance in text: TIE2: R849W

PubMed Link: 21095468

Variant Present in the following documents:

• Main text

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Mechanisms of vascular stability and the relationship to human disease.

Current Opinion In Hematology

Smith, Matthew C P MC; Li, Dean Y DY; Whitehead, Kevin J KJ

Publication Date: 2010-05

Variant appearance in text: VMCM: R849W

PubMed Link: 20308891

Variant Present in the following documents:

• Main text

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Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

European Journal Of Human Genetics : Ejhg

Wouters, Vinciane V; Limaye, Nisha N; Uebelhoer, Melanie M; Irrthum, Alexandre A; Boon, Laurence M LM; Mulliken, John B JB; Enjolras, Odile O; Baselga, Eulalia E; Berg, Jonathan J; Dompmartin, Anne A; Ivarsson, Sten A SA; Kangesu, Loshan L; Lacassie, Yves Y; Murphy, Jill J; Teebi, Ahmad S AS; Penington, Anthony A; Rieu, Paul P; Vikkula, Miikka M

Publication Date: 2010-04

Variant appearance in text: TIE2: 2545C>T

PubMed Link: 19888299

Variant Present in the following documents:

• Main text

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Insights into endothelial mechanisms through the lens of vascular anomalies.

Matrix Biology : Journal Of The International Society For Matrix Biology

Publication Date: 2009-03

Variant appearance in text: TIE2: R849W

PubMed Link: 19328422

Variant Present in the following documents:

• Main text

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From germline towards somatic mutations in the pathophysiology of vascular anomalies.

Human Molecular Genetics

Limaye, Nisha N; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2009-04-15

Variant appearance in text: VMCM: R849W

PubMed Link: 19297403

Variant Present in the following documents:

• Main text

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Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.

Nature Genetics

Limaye, Nisha N; Wouters, Vinciane V; Uebelhoer, Melanie M; Tuominen, Marjut M; Wirkkala, Riikka R; Mulliken, John B JB; Eklund, Lauri L; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2009-01

Variant appearance in text: VMCM: 2545C>T

PubMed Link: 19079259

Variant Present in the following documents:

• Main text
• NIHMS103256-supplement-1.pdf
• nihms-103256.pdf

View BVdb publication page

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